Publications by authors named "Zehra Aycan"

183 Publications

Evaluation of Growth Hormone Results in Different Diagnosis and Trend Over 10 Year of Follow up: A Single Center Experience.

J Clin Res Pediatr Endocrinol 2021 03 22. Epub 2021 Mar 22.

Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey.

Objective: We aimed to evaluate the results of diagnosis, follow-up and treatment of the patients who recieved growth hormone (GH) treatment for the last 10 years and to determine the differences in the process and results over the years.

Methods: Anthropometric, clinical, laboratory data, treatment adherence and side effects were evaluated retrospectively in 767 patients who recieved GH treatment between 2009-2018. Patients were grouped as isolated growth hormone deficiency (IGHD), multiple pituitary hormone deficiency (MPHD), small for gestational age (SGA), Turner syndrome (TS) according to their diagnosis.

Results: GH treatment was started in 689 cases(89.8%) with IGHD, 24(3.1%) with MPHD, 26(3.4%) with SGA and 28(3.7%) with TS. Median age of GH treatment onset was the earliest on SGA (8.4years) while and the latest on IGHD group (12.0years). At the time of treatment offset, height standard deviation score (SDS) in IGHD and MPHD were significantly higher than treatment onset time, whereas there was no significant difference in TS and SGA. One hundred eighty-nine cases reached the final height. Final heights for girls/boys were respectively in IGHD:154/164.9cm, MPHD:156.2/163.5cm; TS:146.7cm, SGA:145.7/-cm. Target height SDS-Final Height SDS median values were IGHD:0.2, MPHD:0.6, SGA:0.5, TS:2.4 respectively in groups.

Conclusions: In our cohort, GH treatment onset age was late and no differences have been observed in the last 10 years. The improvement in the height SDS was seen most in the IGHD and MPHD groups, the least in the TS and SGA groups, the patients' treatment compliance was high (92%) and the incidence of side effects was low (2.7%).
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0238DOI Listing
March 2021

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome.

J Clin Res Pediatr Endocrinol 2021 Feb 10. Epub 2021 Feb 10.

Istanbul University- Cerrahpasa, Cerrahpasa Medical Faculty, Department of Pediatric Endocrinology, Istanbul, Turkey.

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey.

Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated.

Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. Growth hormone treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, BMI SDS remained unchanged.

Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. Growth hormone treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0228DOI Listing
February 2021

Long-Term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia.

J Clin Res Pediatr Endocrinol 2021 Feb 10. Epub 2021 Feb 10.

Clinic of Pediatric Endocrinology, University of Health Sciences, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara-TURKEY.

Objective: Familial hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disease caused by mutation on transient receptor potential melastatin 6 () gene and characterized by selective magnesium malabsorption. Affected cases are usually diagnosed at infancy with seizures due to hypocalcemia and hypomagnesemia. Irreversible neurological deficits and arrhythmias can be observed without appropriate treatment. We aimed to evaluate the long-term follow-up of six patients with genetically confirmed HSH.

Methods: A total of six patients with HSH, two of whom were siblings, were included in the study. Age at diagnosis, clinical, laboratory and follow-up data on admission were recorded. All the 39 exons of gene and flanking exon-intron junctions from genomic DNA were amplified and sequenced in all cases.

Results: The median follow-up duration was 12.1 years (minimum 7.6, maximum 21.7 years). All cases were diagnosed in infancy. Four different mutations, three of which were not previously identified, were detected in gene. The treatment compliance was good and there was no severe complication in the long-term follow-up of cases. We observed mental retardation, specific learning difficulty and attention deficit / hyperactive disorder as comorbidities.

Conclusion: We identified four different mutations and three of these mutations were newly identified. The long-term prognosis of HSH is good with an early diagnosis and good treatment compliance in our case series. The given long-term follow-up data, prognosis and recently identified mutations in HSH cases will contribute to the increase of knowledge about this rare disease and to prevent negative outcomes.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0192DOI Listing
February 2021

Evaluation of Gonadotropin Responses and Response Times According to Two Different Cut-Off Values in Luteinizing Hormone Releasing Hormone Stimulation Test in Girls.

Indian J Endocrinol Metab 2020 Sep-Oct;24(5):410-415. Epub 2020 Nov 9.

Department of Pediatric Endocrinology, University of Health Sciences, Dr. Sami Ulus Training and Research Hospital, Clinic of Children's Health and Disease, Altındağ/Ankara, Turkey.

Background: In this study, we aimed to evaluate FSH, LH responses obtained during LHRH-ST according to two different cut-off values, to determine the diagnostic response times, and to find the optimal blood collection times that could reduce the economic and time burden of LHRH-ST.

Materials And Methods: Patients who underwent LHRH-ST in our clinic with the preliminary diagnosis of precocious puberty (PP) between 01/08/2016 and 31/12/2017 were retrospectively enrolled to the study. In this study 207 girls with PP were included and some of them (102 according to C1 and 139 according to C2) had central PP (CPP). Test response and response times were evaluated according to both cut-off values of stimulated peak LH pubertal responses as 5 mIU/ml (the 1 cut-off = C1) and 3.3 mIU/ml (the 2 cut-off = C2).

Results: Totally, 207 girls with a mean age of 7.5 ± 1.22 (3.4-9.5) years were included in the study. With LHRH-ST; 49.2% ( = 102), 67% ( = 139) of the cases were in pubertal period according to C1, C2, respectively. According to C1; pubertal LH was present in 94.1% ( = 96) of 102 patients who reached pubertal LH value in 45 minutes. The highest pubertal response was obtained in the 45 minute. According to C2, of 139 patients who reached pubertal LH; pubertal LH was determined in 98.5% ( = 137) in the 45 minute. Pubertal LH levels were determined according to both cut-off values in all 27 patients with baseline LH ≥0.31 mIU/ml.

Conclusion: It was determined that measuring LH at 45 minutes during LHRH-ST was sufficient in 94.1% of the cases according to C1 and 97.1% of the cases according to C2. It was concluded that the 30, 45, and 60 minute samples were enough to assess pubertal LH response in 100%of the cases. If the basal LH is found to be ≥0.31 mIU/ml in girls with puberty findings, we recommend that the diagnosis of precocious puberty would be made without performing LHRH-ST.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijem.IJEM_314_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810057PMC
November 2020

Effect of gonadotropin-releasing hormone analog treatment on final height in girls aged 6-10 years with central precocious and early puberty.

Turk Pediatri Ars 2020 16;55(4):361-369. Epub 2020 Dec 16.

Department of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital Ankara, Turkey.

Aim: To determine the effects of gonadotropin-releasing hormone analog treatment on final height and body mass index in girls with central precocious puberty.

Material And Methods: All cases with diagnosis age <8 years constituted group 1 (n=19) and those with ≥8 years constituted group 2 (n=35).

Results: There was no significant difference in height standard deviation score, body mass index standard deviation score, bone age/chronologic age, predicted final height at the time of diagnosis, and follow-up between group 1 and group 2. There was no significant difference in final height (standard deviation score) between the groups. The number of obese and overweight cases at diagnosis and final height was similar. The target height (standard deviation score), predicted final height (standard deviation score), and final height (standard deviation score) were similar in both Group 1 and Group 2.

Conclusion: We found that between the ages of 6-9.8 years, girls with central precocious puberty who received gonadotropin-releasing hormone analog treatment reached a final height within their target height range. It is concluded that gonadotropin-releasing hormone analog treatment increases body mass index during treatment and when patients reach the final height, they return to their pretreatment body mass index. Younger age and greater height at the time of diagnosis are the positive factors on final height.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.14744/TurkPediatriArs.2020.01700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750341PMC
December 2020

Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia.

J Clin Res Pediatr Endocrinol 2020 Dec 30. Epub 2020 Dec 30.

Ankara University School of Medicine, Pediatric Endocrinology Department, Ankara, Turkey.

Objective: We aimed to retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia who were raised male.

Methods: A national database was created. The data of patients were asked to be recorded in the data form.

Results: The median age of diagnosis was 3 (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after age of two years. Ninety five point four percent of cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy at the median age of 7.25 (2.4-25.3) were performed in 35 cases. Testicular prosthesis was placed in 11 (25%) cases. Median age of testicular prosthesis replacement was 11.2 (2.8-17) years. The final height was mean 149.2 cm (132.8-172) in 38 patients (simple virilizing (n=18), salt-wasting (n=6), 11 beta hydroxylase (n=12)). Of the 16 patients above the age of eighteen, university education was completed in 25% of cases.

Conclusion: It was seen that most of the 46,XX CAH cases raised male (2/3) were diagnosed after 2 years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in a very wide age rage.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0216DOI Listing
December 2020

Evaluation of Children and Adolescents with Thyroid Nodules: A Single Center Experience.

J Clin Res Pediatr Endocrinol 2020 Dec 30. Epub 2020 Dec 30.

Dr. Sami Ulus Children's Training and Education Hospital, Pediatric Endocrinology.

Objective: We aimed to evaluate the clinical, radiological and pathological findings of children and adolescents with thyroid nodules.

Method: Data of 121 children and adolescent with thyroid nodule and had fine needle aspiration (FNA) were examined retrospectively. Concomitant thyroid disease, ultrasound (US) features of the nodule, FNA and histopathological results were recorded. FNA results were assessed according to The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC).

Results: Median age of the cases was 14 years (range 3-18 years) and 81% were female. FNA results of patients were insufficient in 1 (0.8%), benign in 68 (56.2 %), indeterminate in 44 (36.4%) and malignant in 8 (6.6%) patients. Among 39 patients who were directed to surgery, 10 patients had differentiated thyroid cancer (DTC). The total malignancy rate was 10.0% (10/100). Control FNA results showed progress according to TBSRTC in 18.7% of benign results and 4 of 75 patients had DTC in surgical excision. 2 of 22 patients with atypia of undetermined significance (AUS) who continued follow-up was diagnosed with DTC. Male gender, presence of Hashimoto thyroiditis and US findings of uninodularity; hypoechogenicity; increased blood flow; irregular margins; solid structure; microcalcification and presence of abnormal cervical lymph nodes were associated with malignancy.

Conclusion: Our results revealed that, thyroid nodules are 10% malignant in children and adolescents. Patients with AUS has 9% potential for malignancy and patients with initially benign FNA result may have changes in TBSTRC findings in repeat FNA with a 5.3% false negative rate.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0213DOI Listing
December 2020

Clitoromegaly caused by ovarian stimulation in a preterm newborn: ovarian hyperstimulation syndrome of preterm babies.

Turk J Pediatr 2020 ;62(6):1088-1093

Clinics of Pediatric Endocrinology, University of Health Sciences, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.

Background: Preterm ovarian hyperstimulation syndrome (POHS) is an uncommon disorder characterized by prematurity, hypogastric and upper leg swelling, high serum estradiol and gonadotropin levels, and ovarian cysts. Immaturity of the gonadal axis is accepted as the cause. But still, other etiological factors are suspected.

Case: A preterm baby who was born at 24 gestational weeks was referred to our clinic for ambiguous genitalia on day 118 of life. Labia majora and clitoris was edematous. Clitoris length was 1.5 cm. On laboratory evaluation: 17OH-Progesterone: 1.84 ng/ml, dehydroepiandrosterone sulphate (DHEA-S): 139 μg/dl, total testosterone (T.T): 88 ng/dl, luteinizing hormone (LH): 22.5 mIU/l, Follicle stimulating hormone (FSH): 15.7 mIU/l, estradiol (E2): 447 pg/ml. Karyotype analysis was 46, XX. There was a 25x14x12 mm ovarian cyst detected on ultrasound. On follow-up, E2 levels and cyst size increased, and there was 4 mm pericardial effusion on echocardiography at the time.

Conclusion: In this paper, we present a case with POHS and to discuss possible pathophysiological mechanisms and treatment. This is the first case of POHS developing pericardial effusion.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2020.06.022DOI Listing
January 2020

An evaluation of the knowledge and attitudes of school staff related to diabetes care at school: The 10th year of the "diabetes program at school" in Turkey.

Pediatr Diabetes 2021 Mar 30;22(2):233-240. Epub 2020 Nov 30.

Pediatric Endocrinology and Diabetes Department, Koc University School of Medicine, Istanbul, Turkey.

The aim of this study was to measure the knowledge and attitudes of school staff regarding care in school for children with type 1 diabetes and to evaluate the contribution of the "Diabetes Program at School"(DPS). The data were collected through an online survey consisting of 55 questions, which included 39 knowledge and 16 attitude questions. The survey was delivered to the participating school staff via a link. A total of 55,677 people who completed 100% of the survey were included. Of the participants, 76% were teachers, 23% were school administrators and 0.1% were school nurses. 73% (40732) of the participants stated that they had heard about the "DPS". Of the participants who were aware of the DPS 75%, 50%, and 41% stated an increase in their knowledge level, self-confidence, and awareness respectively. Both scores were positively associated with being female and school nurse, having students with diabetes in the school, having been trained in childhood diabetes, being familiar with the program and being from the Western region of Turkey. The DPS is well known among school staff including teachers, school administrators, and school nurses. However, there are clear regional differences in the knowledge and attitude of school staff regarding diabetes care at school. Therefore, regional differences should be taken into account when planning the necessary interventions to prevent any further increase in the current inequalities. In addition, increasing the number of school nurses, together with strengthening the knowledge and attitude of school staff, can improve the level of diabetes care at school.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/pedi.13157DOI Listing
March 2021

Assessment of academic performance of licensed athletes.

Int J Adolesc Med Health 2020 Nov 2. Epub 2020 Nov 2.

Department of Pediatrics, Division of Adolescent Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Objectives Physical activity and sports can be used to reduce stress and anxiety by increasing aerobic capacity and muscle endurance, gain positive behavioral changes and improve their self-discipline, use time well, adopt positive lifestyle such as regular eating and sleeping, which will result in an increase in school success. There are no comprehensive study that examines the academic performance of licensed student athletes and the factors influencing their success rates. The aim of this study was to evaluate the academic performance and related factors in licensed athletes. Methods One hundred eleven licensed athletes at junior high school level were enrolled. Participants filled out questionnaires specifically designed to assess for factors affecting academic performance, where personal and familial factors as well as school performance was taken into consideration. Their academic success rates were evaluated out of mean grade points before as well as after professional sports activities. Academic fields that were graded were, namely, mathematics, life sciences, language, and grammar studies as well as social sciences. Fifty one of participants lived in Ankara (Group 1) and the other 60 lived in Kahramanmaraş (Group 2). The effects of sport and other factors that may affect school success in all groups and between the groups were evaluated before and after sports. Results The age of the athletes were 14.1 ± 2.3 years, 49.5% were male. The grades of athletes before they started competing in professional sports were 80.4 ± 10.6 for mathematics, 80.5 ± 12.5 for sciences, 82.7 ± 9.5 for language studies, and 83.6 ± 9.3 for social sciences. Following a mean period of 4.3 ± 3.1 years of professional sports, the grades of athletes were, with the same order for respective discipline were, 81.6 ± 10.9, 82.4 ± 11.9, 84.3 ± 9.4, and 85.5 ± 8.5. Following sports activities, academic performance in life sciences, language, and grammar studies as well as social sciences showed a significant improvement where grades for mathematics did not show any significant change (p=0.054). The most important factor that improves school performance is the financial status of the family. In Group 1 demonstrated grade improvements following sports activities only in social sciences, whereas Group 2 athletes showed such an improvement for all the disciplines (p<0.05). Conclusions Licensed athletes' school success during the junior high school period showed a significant increase after sports in this study. The most important factors that affected the academic performance were the socioeconomic status of the family.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1515/ijamh-2019-0184DOI Listing
November 2020

Recombinant GH treatment in a case of Costello syndrome with a 5-year follow-up.

Clin Pediatr Endocrinol 2020 3;29(4):195-199. Epub 2020 Oct 3.

Department of Pediatric Endocrinology, School of Medicine, Ankara University, Ankara, Turkey.

Costello syndrome (CS) is a rare member of the group of neuro-cardio-facio-cutaneous diseases known as RASopathies. CS involves characteristic dysmorphic craniofacial features, cardiac defects, and increased cancer susceptibility, depending on the heterozygous activating germline mutations in . Polyhydramnios and high birth weight are the most common presentations in the perinatal and neonatal periods; while poor postnatal growth, short stature, and failure to thrive are significant issues in infancy. Possible mechanisms of short stature in CS include GH deficiency and feeding difficulties. Only a few reported cases of CS with GH deficiency exist in literature. Here, we describe the 5-yr follow-up of a CS patient with complete GH deficiency treated with recombinant human GH (rhGH) from the age of four years. No significant adverse events regarding progression of hypertrophic cardiomyopathy and tumor development were observed. She has been responsive to treatment with improved growth velocity and height standard deviation scores. She is still under continuous monitoring for concerns on the possible development of cardiac events and malignancies. This case indicated that rhGH therapy is effective for improving the height and growth velocity of CS patients with GH deficiency under close cardiac and oncological monitoring.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1297/cpe.29.195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534522PMC
October 2020

Anterior Segment Findings in Patients With Osteogenesis Imperfecta: A Case-Control Study.

Cornea 2020 Aug;39(8):935-939

Dr. Sami Ulus Children's Training and Research Hospital, University of Health Sciences, Ankara, Turkey; and.

Purpose: To evaluate the anterior segment parameters in patients with osteogenesis imperfecta (OI) compared with healthy control subjects.

Methods: Seventeen patients with OI and 19 age-matched healthy controls were included into this cross-sectional case-control study. Corneal topographic, topometric and Belin-Ambrósio Enhanced Ectasia Display III analysis, corneal densitometry (12-mm corneal diameter), and lens densitometry measurements were obtained by using the Pentacam HR-Scheimpflug imaging system (Oculus, Wetzlar, Germany). The corneal endothelial cell properties were determined by specular microscopy.

Results: In comparison to the control group, patients with OI had significantly higher front astigmatism (0.8 ± 0.4 vs. 1.4 ± 1.1 mm, P = 0.026), thinner thinnest corneal thickness (556.4 ± 32.7 μm vs. 482.5 ± 66.9 μm, P = 0.002), smaller corneal volume (62.4 ± 3.5 mm vs. 53.7 ± 6.4 mm, P < 0.001), lower anterior chamber depth (3.2 ± 0.3 mm vs. 3.0 ± 0.2 mm, P = 0.009), higher index of vertical asymmetry (0.1 ± 0.04 vs. 0.2 ± 0.11, P < 0.001), higher posterior elevation (6.0 ± 2.7 μm vs. 11.9 ± 7.8 μm, P = 0.002), lower maximum Ambrósio relational thickness indice (456.6 ± 67.5 vs. 365.6 ± 115.7, P = 0.009), and higher final "D" value (0.7 ± 0.4 vs. 2.0 ± 1.6, P = 0.002). The corneal and lens densitometry values were similar in all concentric zones and layers in both groups except that 6 to 10 mm in the center. Corneal densitometry was higher in eyes with OI than that in the control group (9.8 ± 1.7 and 8.8 ± 1.0, P = 0.010). There was no difference in endothelial cell morphology between the groups (P > 0.05).

Conclusions: The morphologic parameters determined on the corneal analysis are in general agreement with the known pathophysiology of OI. Corneal analysis may prove useful in monitoring patients with OI in clinical practice.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/ICO.0000000000002345DOI Listing
August 2020

Is There Any Association Between Hirsutism and Serum Zinc Levels in Adolescents?

Biol Trace Elem Res 2020 Dec;198(2):403-409

Department of Pediatrics, Division of Adolescent Medicine, Hacettepe University Medical School, 06610, Ankara, Turkey.

Zinc has shown to have an anti-androgenic effect through 5 alpha-reductase enzyme activity inhibition in skin. However, there are contradicting findings concerning the effect of zinc on hirsutism mainly from studies including adult women with polycystic ovary syndrome (PCOS). The aim of our study was to investigate the association between serum zinc levels and hirsutism in adolescents. Between October 2017 and June 2018, 51 female adolescents with hirsutism (mean age: 16.11 ± 1.47 years) and 51 healthy female controls were included in the study (mean age: 15.5 ± 1.40 years). Adolescents with hirsutism were classified under two groups; PCOS (n = 34, 66.7%) and idiopathic causes of hirsutism (idiopathic hirsutism (n = 9, 17.6%) and idiopathic hyperandrogenemia (n = 8, 15.7%)). The serum zinc levels were measured via atomic absorption spectrophotometry. The mean zinc levels of adolescents with hirsutism (102.02 ± 11.64 μg/dl) and the control group (101.72 ± 16.71 μg/dl) were similar (p = 0.915). Additionally, there was no significant difference among the mean zinc levels of the hirsutism sub-groups and the control group (p = 0.979). While some studies demonstrated low zinc levels in women with hirsutism, some studies similar to ours showed no association. Adolescence is a developmental phase where generally isolated mild hirsutism is not associated with hyperandrogenism and more studies are needed to evaluate the effect of zinc on hirsutism in this age group.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12011-020-02086-yDOI Listing
December 2020

Serum Fetuin-A and Insulin Levels in Classic Congenital Adrenal Hyperplasia.

Horm Metab Res 2020 Sep 27;52(9):654-659. Epub 2020 Feb 27.

Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.

Androgens play a pivotal role in non-reproductive organs such as the kidney, heart, liver, and pancreas. As androgen receptors are expressed in pancreatic and liver cells, excess testosterone can result in hypersecretion of insulin and fetuin-A, a protein produced in the liver. The expression of fetuin-A, a natural inhibitor of tyrosine kinase activity in muscle and liver, leads to insulin resistance. In addition, insulin and fetuin-A levels are thought to be affected by drugs such as glucocorticoids (GCs) and fludrocortisone. However, whether fetuin-A and insulin levels are affected by androgens and GCs in patients with classic congenital adrenal hyperplasia (CAH) is unknown. This cross-sectional study included 56 CAH patients and 70 controls. Analyses were stratified by sex and prepubertal/pubertal status to control for potential changes in serum metabolic/inflammatory markers associated with the production of sex steroids. Fasting blood glucose, insulin, triglyceride, total cholesterol, high density lipoprotein-cholesterol, aspartate aminotransferase, alanine aminotransferase, fetuin-A, and high-sensitivity C-reactive protein (hs-CRP) levels were measured in blood samples. In addition, 17α-hydroxyprogesterone, androstenedione, total testosterone, free testosterone, and dehydroepiandrosterone sulfate levels were measured before medication was administered. Insulin and fetuin-A levels were significantly higher in CAH patients than in controls. The unfavourably high levels of these substances exhibited a positive correlation with total and free testosterone. Regression analysis revealed that fetuin-A and free testosterone were the only independent predictors of the insulin level, while insulin and free testosterone levels significantly predicted the fetuin-A level (R42.7% and 59.8%). Differences were also observed in triglyceride and hs-CRP levels between the pubertal and prepubertal groups. We conclude that serum fetuin-A and insulin levels may be associated with androgens in CAH patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1055/a-1116-2173DOI Listing
September 2020

Congenital long-QT syndrome in type 1 diabetes: a unique association.

Turk J Pediatr 2019 ;61(5):791-793

Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.

Kurnaz E, Savaş Erdeve Ş, Özgür S, Keskin M, Özbudak P, Çetinkaya S, Aycan Z. Congenital long-QT syndrome in type 1 diabetes: a unique association. Turk J Pediatr 2019; 61: 791-793. In contrast to acquired long QT syndrome (LQTS), congenital LQTS is a relatively rare channelopathy with an incidence of 1/2,500. We describe a patient found to have a prolonged QTc in the setting of newly diagnosed Type 1 DM. To the best of our knowledge, this unique association has not been previously reported. Currently, it is shown that glucose ingestion aggravated cardiac repolarization disturbances in LQT2 patients and prolonged the cardiac repolarization phase in healthy controls. Our case presented to the hospital with syncope after increased glucose level. Therefore, it seems that increased glucose level may have prolonged QTc interval and aggravated cardiac repolarization disturbances in the presented case. By this report, we want to emphasize the importance of hyperglycaemia in congenital LQTS.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2019.05.022DOI Listing
August 2020

The effect of 2000 ıu/day vitamin D supplementation on insulin resistance and cardiovascular risk parameters in vitamin D deficient obese adolescents.

Turk J Pediatr 2019 ;61(5):723-732

Clinic of Pediatric Endocrinology, Health Sciences University, Dr. Sami Ulus Obtetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.

Bilici ME, Savaş Erdeve Ş, Çetinkaya S, Aycan Z. The effect of 2000 ıu/day vitamin D supplementation on insulin resistance and cardiovascular risk parameters in vitamin D deficient obese adolescents. Turk J Pediatr 2019; 61: 723-732. The aim of this study was to determine the vitamin D deficiency prevalence in obese adolescents and to investigate the effect of vitamin D supplementation on insulin resistance and cardiovascular risk parameters in obese adolescents with vitamin D deficiency. Ninety-six obese adolescents aged 10-18 years were divided in 2 groups according to their vitamin D levels: Deficient group ( < 12ng/ ml) and sufficient group (≥12ng/ml). All patients in the vitamin D deficiency group were recommended 2000IU/day vitamin D supplementation. Fifty four (56.3%) patients had vitamin D deficiency. The only difference between the two groups was PTH level which was higher in the vitamin D deficiency group. Vitamin D reached sufficient levels in 22 (95.6%) out of the 23 patients with the 3 month supplementation of 2000 IU/day vitamin D. There was a significant decrease in weight Standard Deviation Score (SDS), Body Mass Index (BMI) SDS, hip circumference, total cholesterol, LDL, HbA1c, AST, PTH and interleukin-6 while no significant change was seen in measurements of glucose, insulin, HOMA-IR, C-peptide and the rate of metabolic syndrome. There were decreases in levels of total cholesterol and LDL with vitamin D treatment, while there was no significant change in insulin resistance. Vitamin D reduced interleukin-6 levels by its antiinflammatory effect.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2019.05.011DOI Listing
August 2020

Cigarette smoking in adolescents with type 1 diabetes mellitus and congenital adrenal hyperplasia.

Turk J Pediatr 2019 ;61(2):236-243

Clinic of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.

Asfuroğlu P, Araslı-Yılmaz A, Aycan Z. Cigarette smoking in adolescents with type 1 diabetes mellitus and congenital adrenal hyperplasia. Turk J Pediatr 2019; 61: 236-243. Adolescence is a long period involving many physical and psycho-social changes experienced during transition from childhood to adulthood. In this period, behaviors such as curiosity and risk-taking are common, and cigarette smoking initiation is one of those behaviors. In this study, it was aimed to find out whether chronic diseases are an effective factor or not in the cigarette smoking initiation of adolescents. One-hundred adolescents with Type 1 Diabetes Mellitus (T1DM) and 50 adolescents with Congenital Adrenal Hyperplasia (CAH) aged 12 and above under follow-up at the Pediatric Endocrinology Clinic and 100 healthy adolescents within the same age group who applied to the Adolescent Outpatient Clinic were included in the study. A survey was applied to all of these adolescents, which had been developed by researchers and contained questions about their socio-demographic features and cigarette smoking. Fourteen (5.6%) of the 250 adolescents were smokers. The rate of those who tried, but quitted cigarette smoking was found as approximately 20%. Cigarette smoking rate of those with T1DM was 1%, of those with CAH was 4%, and of the healthy adolescents was 11%. Cigarette smoking was significantly lower in those with a chronic disease (2%) than those who were healthy (11%). Adolescents` parents and friends had an effect on the cigarette smoking initiation, and adolescents smoked their first cigarette generally because of curiosity. It was seen in this study that the adolescents with a chronic disease less frequently smoked cigarettes than the healthy adolescents, the rate of cigarette smoking in parents of cigarette smoking adolescents was very high, and their parents and friends had an effect on cigarette smoking initiation of adolescents.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2019.02.012DOI Listing
July 2020

Intramuscular Short-term ACTH Test for the Determination of Adrenal Function in Children: Safe, Effective and Reliable

J Clin Res Pediatr Endocrinol 2020 09 17;12(3):241-247. Epub 2019 Dec 17.

Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey

Objective: Standard short adrenocorticotropic hormone (ACTH) stimulation test (SST) has traditionally been used for assessing adrenal gland fuction by intravenous (iv) application. However the iv form is not readily available in all countries, including Turkey. The aim of this study was to evaluate the effectiveness of the intramuscular (im) SST.

Methods: Patients underwent im SST with suspected adrenal insufficiency (AI) and hyperandrogenism. The SSTs were done with 250 mcg ACTH (Synacthen Depot ampul, concentration 1 mg/mL). The cases were divided into two groups: suspected AI (group 1 n=87); and hyperandrogenism group (group 2 n=124). Definite AI was defined as peak cortisol <18 μg/dL, suspected AI as a peak cortisol of 18-21 μg/dL and normal result was defined as a peak cortisol ≥22 μg/dL.

Results: The mean age of the patients was 11.7±5.2 years. In 164 patients (78%) all of the peak cortisol tests were normal (≥22 mcg/dL). The rates were 64% and 88% in group 1 and 2, respectively. Only 8.5% (n=18) of all cases had an inadequate peak cortisol response of <18 mcg/dL. On follow up, 15 patients whose peak cortisol was <18 mcg/dL needed cortisol therapy. Of all cases 3.3% (n=8) had 17-OHP ≥10 ng/dL. Clinical findings suggestive of non-classical congenital adrenal hyperplasia and/or mutation were found in six of these cases (75%). No local and systemic side effects or allergic reactions were observed in any patient.

Conclusion: IM ACTH SST is a safe, effective and reliable test in children with suspected AI. There were no local or systemic side effects, supporting the reliability of the im ACTH test.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499132PMC
September 2020

The alteration of IGF-1 levels and relationship between IGF-1 levels and growth velocity during GnRH analogue therapy.

J Pediatr Endocrinol Metab 2020 Jan;33(1):113-120

Dr. Sami Ulus Obstetrics and Gynaecology, Paediatric Health and Disease Training and Research Hospital, Paediatric Endocrinology Clinic, Ankara, Turkey.

Background Some studies have examined the effect of gonadal suppression on insulin-like growth factor-1 (IGF-1) levels and the growth velocity (GV) with conflicting results. Methods Forty-four girls treated with gonadotropin-releasing hormone analogue (GnRHa) for central precocious puberty (CPP) were included in the study. IGF-1 levels were examined at the beginning and after 12 months of treatment. Results IGF-1 and IGF-1 standard deviation score (SDS) according to chronological age (CA-IGF-1 SDS) at diagnosis were positively correlated with chronological age (CA), anthropometric measurements, stage of puberty, bone age (BA), BA-CA, follicle-stimulating hormone (FSH), luteinising hormone (LH), oestradiol, uterus length, endometrium thickness and ovarian volume (OV) at diagnosis (p < 0.05). There was no significant difference in IGF-1 levels after treatment. However, there was a negative correlation between ΔIGF-1 SDS and IGF-1 level, CA-IGF-1 SDS and BA-IGF-1 SDS at diagnosis (p < 0.05). There was no correlation between GV and IGF-1, ΔIGF-1. GV was negatively correlated with basal LH level at diagnosis (p = 0.008, r = -0.397). Peak LH levels of the patients who had GV-SDS < 0 were more suppressive than those of the patients who had GV-SDS > 0 after 12 months of treatment. Conclusions It was determined that the IGF-1 level and CA-IGF-1 SDS at baseline were correlated with more advanced pubertal stage prior to treatment. Initiation of treatment with a relatively high level of IGF-1 increased the risk of a decrease in the IGF-1 level. Likewise, the initiation of treatment with a relatively high LH level may increase the risk of low GV, but low GV was not related to the IGF-1 level. Increased sex steroid suppression may increase the risk of low GV.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2018-0482DOI Listing
January 2020

Vitamin D deficiency in adolescent pregnancy and obstetric outcomes.

Taiwan J Obstet Gynecol 2019 Nov;58(6):778-783

Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Adolescent Medicine, Turkey.

Objective: The aim of this study was to evaluate the rates of vitamin D deficiency in adolescent pregnants and its influence on the obstetric outcomes.

Materials And Methods: A total of 300 singleton pregnant women aged between 14 and 20 years, were divided into three groups according to their gestational weeks (100 pregnant adolescents from each trimester). Randomly selected 300 singleton pregnant women older than 20 years of age with the similar gestational ages were designed as the control group at the same time period. We divided serum 25(OH)D levels into three categories deficiency, inadequacy and adequate levels according to the Endocrine Society guidelines. Serum 25(OH)D levels were also evaluated according to age, seasons and gestational periods. Adverse obstetric outcomes were recorded.

Results: Overall, 86% of the subjects were found to have deficient 25(OH)D levels (<20 ng/ml). The levels indicated an inadequate state in 72 subjects (12%) and only 12 (2%) women had adequate 25 (OH) D levels. Among adult pregnant women the rates of deficient, inadequate and adequate levels were 88.3%, 11%, and 0.7% respectively. Among adolescent pregnant women these rates were 83.7%, 13%, and 3.3% respectively. The lowest 25(OH)D levels occurred during the winter while the highest levels were detected during the summer in both groups. Calcidiol, 25(OH)D, was a significant predictor for preterm delivery (AUC = 0,909; p < 0,001) and also for SGA (AUC = 0,915; p < 0,001). Maternal age was another significant predictor for SGA (AUC = 0,787; p < 0,001) and preterm delivery (AUC = 0,785; p < 0,001).

Conclusion: We found a high incidence of 25(OH)D deficiency in Turkish pregnant women. Adolescent age and low 25(OH)D levels are significant risk factors for PTD and SGA. Effective prophylaxis programs for vitamin D deficieny and/or fortification of foods with vitamin D are essential in pregnant women especially in the winter season.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tjog.2019.09.008DOI Listing
November 2019

Functional assessment of variants associated with Wolfram syndrome.

Hum Mol Genet 2019 11;28(22):3815-3824

Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK.

Wolfram syndrome (WS) is a heterogeneous multisystem neurodegenerative disorder with two allelic variations in addition to a separate subtype known as WS type 2. The wide phenotypic spectrum of WS includes diabetes mellitus and optic atrophy which is often accompanied by diabetes insipidus, deafness, urological and neurological complications in combination or in isolation. To date, the understanding of the genotype-phenotype relationship in this complex syndrome remains poorly understood. In this study, we identified and explored the functionality of rare and novel variants in the two causative WS genes WFS1 and CISD2 by assessing the effects of the mutations on the encoded proteins Wolframin and ERIS, in a cohort of 12 patients with autosomal recessive WS, dominant WS and WS type 2. The identified pathogenic variants included missense changes, frameshift deletions and insertions in WFS1 and an exonic deletion in CISD2 which all altered the respective encoded protein in a manner that did not correlate to the phenome previously described. These observations suggest the lack of genotype-phenotype correlation in this complex syndrome and the need to explore other molecular genetic mechanisms. Additionally, our findings highlight the importance of functionally assessing variants for their pathogenicity to tackle the problem of increasing variants of unknown significance in the public genetic databases.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddz212DOI Listing
November 2019

Effects of 5-Hydroxymethylfurfural on Pubertal Development of Female Wistar Rats

J Clin Res Pediatr Endocrinol 2020 03 2;12(1):79-85. Epub 2019 Sep 2.

University of Health Sciences Turkey, Dr. Sami Ulus Children Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey

Objective: 5-Hydroxymethylfurfural (HMF) is formed when sugars are heated in the presence of amino acids. HMF is naturally present in many foods. To investigate the toxic effects of HMF on the reproductive system of peripubertal rats.

Methods: In the study, 24 immature female Wistar rat were divided into three groups: control (CT) fed with no HMF; low dose fed with 750 mg/kg/day of HMF and high dose (HD) groups fed with 1500 mg/kg/day of HMF. All groups received these diets for three weeks from postnatal day (PND) 21. The vaginal opening (VO) was monitored daily and euthanasia occurred on PND 44. Gonadotropin, estradiol (E2), progesterone and anti-Müllerian hormone (AMH) concentrations were measured. Reproductive organ weights and ovarian follicle counts were compared.

Results: The HD HMF group had earlier VO. Higher mean luteinising hormone (2.9±1.2 vs 1.3±0.3 mIU/mL) and mean E2 (34.7±8.8 vs 21.2±3.9 pg/mL) and lower mean AMH (2.7±0.5 vs 4.7±0.7 ng/mL) concentrations were found in the HD compared to the CT group. The HD group also had increased number of secondary atrophic follicles.

Conclusion: These results indicate that peripubertal exposure to HMF at HD result in precocious puberty and decreased AMH levels in female Wistar rats.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127893PMC
March 2020

Early visual field changes in patients with type 1 diabetes mellitus.

Eur J Ophthalmol 2020 Nov 30;30(6):1467-1472. Epub 2019 Aug 30.

Department of Endocrinology, Dr. Sami Ulus Maternity, Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.

Purpose: To assess the visual field sensitivity changes and investigate the association between visual field sensitivity and retinal nerve fiber layer thickness in patients with type 1 diabetes mellitus.

Materials And Methods: In this cross-sectional and observational study, 46 patients (22 males, 24 females) with type 1 diabetes mellitus and no diabetic retinopathy formed the diabetes mellitus group and 50 age-matched healthy subjects (32 males, 18 females) formed the control group. Retinal nerve fiber layer thickness, full-threshold standard automated perimetry, and short-wavelength automated perimetry were performed. Main outcomes were retinal nerve fiber layer thickness, mean deviation, pattern standard deviation, and short fluctuation.

Results: Average retinal nerve fiber layer thickness was significantly thinner in the diabetes mellitus group (p < 0.001). The mean values of mean deviation and pattern standard deviation of the full-threshold standard automated perimetry did not differ between the groups (p = 0.179, p = 0.139, respectively). Mean short fluctuation was significantly greater in the diabetes mellitus group (p < 0.001). Both mean deviation and pattern standard deviation of the short-wavelength automated perimetry were significantly greater in the diabetes mellitus group (p < 0.001, p < 0.001, respectively). Pattern standard deviation of short-wavelength automated perimetry equal or higher than 1.57 dB had 91% sensitivity and 90% specificity (area under the curve = 0.969, p < 0.001) and short fluctuations of full-threshold standard automated perimetry equal or higher than 0.80 dB had 80% sensitivity and 76% specificity over detecting early retinal nerve fiber layer loss in patients with type 1 diabetes mellitus (area under the curve = 0.855, p < 0.001).

Conclusion: This study showed that thinner retinal nerve fiber layer in patients with type 1 diabetes mellitus may be associated with abnormal retinal sensitivity to short-wavelength stimulations in short-wavelength automated perimetry; however, retinal sensitivity to white stimulus was similar to that in healthy subjects in full-threshold standard automated perimetry.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/1120672119872896DOI Listing
November 2020

Local Ocular Surface Alterations in Children with Hashimoto's Thyroiditis.

Ocul Immunol Inflamm 2020 Jul 15;28(5):791-797. Epub 2019 Aug 15.

Department of Pediatric Endocrinology, Dr. Sami Ulus Children's Health and Disease Training and Research Hospital , Ankara, Turkey.

Purpose: To evaluate the ocular surface characteristics based on Schirmer's test, tear break-up time (TBUT), and conjunctival impression cytology (CIC) in children with Hashimoto's thyroiditis (HT).

Methods: This study included 51 children with HT and 53 control subjects. The ocular surface characteristics of participants were assessed via Schirmer's test, TBUT, and CIC. Conjunctival samples were examined cytologically according to the Nelson grading system.

Results: Schirmer's and TBUT results were significantly lower in HT group ( < .05). All samples in both the study and control groups were evaluated as grade 0 according to the Nelson classification ( = .841), however, goblet cell density (GCD) was significantly lower in HT group ( = .001). Schirmer test results were significantly associated with the duration of HT ( = .025, r = -0.311).

Conclusion: Hashimoto's thyroiditis without any ocular complaints may cause ocular surface changes with TBUT and Schirmer's. Although CIC analysis showed similar grading results, GCD was significantly decreased in HT group.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09273948.2019.1642495DOI Listing
July 2020

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Hum Mutat 2019 11 6;40(11):2033-2043. Epub 2019 Aug 6.

Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.

Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in an unusually large group of patients. All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with nonsyndromic IGHD. Functional consequences of all newly identified missense variants were assessed in vitro (i.e., study of the expression of recombinant GHRHRs and their ability to activate the cyclic adenosine monophosphate (cAMP) signaling pathway). Genotype-phenotype correlation analyses were performed according to the nature of the identified mutation. We identified 20 different disease-causing GHRHR mutations (truncating and missense loss-of-function mutations), among which 15 are novel, in 24 unrelated patients. Of note, about half (13/24) of those patients represent sporadic cases. The clinical phenotype of patients with at least one missense GHRHR mutation was found to be indistinguishable from that of patients with bi-allelic truncating mutations. This study, which unveils disease-causing GHRHR mutations in 8% (24/312) of IGHD cases, identifies GHRHR as the second IGHD gene most frequently involved after GH1. The finding that 8% of IGHD cases without GH1 mutations are explained by GHRHR molecular defects (including missense mutations), together with the high proportion of sporadic cases among those patients, has important implications for genetic counseling.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23847DOI Listing
November 2019

Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation.

J Pediatr Endocrinol Metab 2019 Jun;32(6):647-651

Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Altındağ/Ankara, Turkey.

Background Vitamin D resistant rickets (HVDRR), is a rare autosomal recessive disorder caused by vitamin D receptor (VDR) gene mutations. There is no standard treatment in HVDRR. Case report The patient was a 3-year-old girl presenting with short stature, genu varum deformity, waddling gait and alopecia. She had hypocalcemia, hypophosphatemia, hyperparathyroidism and normal 1.25-(OH)2D levels. The patient was initially treated with calcitriol and high-dose oral calcium (Ca) for 22 months. The patient was treated with continuous high dose intravenous (i.v.) Ca therapy for 4 months, following initial lack of response to oral Ca and calsitriol. At the end of the 4 months, rickets was dramatically improved and did not recur for 3 years after i.v. Ca therapy. DNA sequence analyses of the VDR gene showed a homozygous novel mutation. Conclusions We identified a novel VDR gene mutation, and we concluded that i.v. Ca therapy from the central catheter is a safe treatment in HVDRR.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2018-0399DOI Listing
June 2019

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

J Clin Endocrinol Metab 2019 08;104(8):3049-3067

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Context: Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of individuals with hypergonadotropic hypogonadism presenting as POI, the molecular etiology is unknown. Common etiologies include chromosomal abnormalities, environmental factors, and congenital disorders affecting ovarian development and function, as well as syndromic and nonsyndromic single gene disorders suggesting POI represents a complex trait.

Objective: To characterize the contribution of known disease genes to POI and identify molecular etiologies and biological underpinnings of POI.

Design, Setting, And Participants: We applied exome sequencing (ES) and family-based genomics to 42 affected female individuals from 36 unrelated Turkish families, including 31 with reported parental consanguinity.

Results: This analysis identified likely damaging, potentially contributing variants and molecular diagnoses in 16 families (44%), including 11 families with likely damaging variants in known genes and five families with predicted deleterious variants in disease genes (IGSF10, MND1, MRPS22, and SOHLH1) not previously associated with POI. Of the 16 families, 2 (13%) had evidence for potentially pathogenic variants at more than one locus. Absence of heterozygosity consistent with identity-by-descent mediated recessive disease burden contributes to molecular diagnosis in 15 of 16 (94%) families. GeneMatcher allowed identification of additional families from diverse genetic backgrounds.

Conclusions: ES analysis of a POI cohort further characterized locus heterogeneity, reaffirmed the association of genes integral to meiotic recombination, demonstrated the likely contribution of genes involved in hypothalamic development, and documented multilocus pathogenic variation suggesting the potential for oligogenic inheritance contributing to the development of POI.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2019-00248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563799PMC
August 2019

Changes in Retinal Microcirculation Precede the Clinical Onset of Diabetic Retinopathy in Children With Type 1 Diabetes Mellitus.

Am J Ophthalmol 2019 11 19;207:37-44. Epub 2019 Apr 19.

Department of Pediatric Endocrinology, Dr Sami Ulus Children's Health and Disease Training and Research Hospital, Ankara, Turkey.

Purpose: To investigate whether abnormal glucose metabolism in diabetes mellitus (DM) affects the retinal microcirculation of children with well-controlled type 1 DM and to compare these results with those obtained from healthy children.

Design: Cross-sectional prospective study.

Methods: This study enrolled 60 patients with DM without clinically detectable diabetic retinopathy (DR) and 57 age-matched control subjects. Optical coherence tomography angiography (OCT-A) was performed using AngioVue (Avanti, Optivue). Foveal avascular zone (FAZ) area, nonflow area, superficial and deep vessel densities, FAZ perimeter, acircularity index of FAZ (AI; the ratio of the perimeter of FAZ and the perimeter of a circle with equal area), and foveal density (FD-300; vessel density in 300 μm around FAZ) were analyzed. Correlations between the investigated OCT-A parameters with DM duration and glycated hemoglobin (HbA1c) levels were evaluated among patients with type 1 DM.

Results: Differences in the mean values for FAZ perimeter, AI, and FD-300 were statistically significant between DM group and control group (P < .001, P = .001, and P = .009, respectively). There were also statistically significant differences between the groups for vessel densities of deep superior hemi-parafovea, deep temporal parafovea, and deep superior parafoveal zones (P = .008, P = .015, and P = .005, respectively). There were no significant correlations between DM duration and HbA1c levels with the investigated OCT-A parameters.

Conclusion: Diabetic eyes without clinically detectable DR exhibited alterations in FD-300, AI, perimeter, and vessel density of parafoveal capillaries in deep capillary plexus preceding the enlargement of FAZ; therefore, these new parameters might be sensitive imaging biomarkers to define early DR.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajo.2019.04.011DOI Listing
November 2019

Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves' disease: a single-center experience.

J Pediatr Endocrinol Metab 2019 Apr;32(4):341-346

Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Altındağ/Ankara, Turkey.

Background The management options for Graves' disease in children are limited and there is controversy regarding optimal treatment. Remission rate with anti-thyroid drug (ATD) treatment in children is said to be lower than in adults. Definitive treatments are effective, but they often result in permanent hypothyroidism. The objective of this study was to investigate the outcome of methimazole treatment, identify significant predictors of a remission and evaluate the adverse effects of methimazole in a pediatric population of GD patients. Methods Medical records of the patients who had been diagnosed with Graves' disease were screened retrospectively. Diagnostic criteria included elevated free thyroxine (fT4) and total triiodothyronine (T3), suppressed thyroid-stimulating hormone (TSH) and either positive thyroid-stimulating immunoglobulin (TSI) or thyroid receptor antibodies (TRABs) or clinical signs suggestive of Graves' disease, for example, exophthalmos. Remission was defined as maintenance of euthyroidism for more than 12 months after discontinuing methimazole treatment. Results Of the 48 patients, provisional remission was achieved in 21 patients. Of the 21 patients, 14 experienced a relapse (66.6%). Remission was achieved in seven (24.1%) of 29 patients who received methimazole treatment for more than 2 years. In patients who achieved long-term remission, the male sex ratio and fT4 levels at diagnosis were significantly lower than the relapsed and non-remission groups, whereas the free triiodothyronine (fT3)/fT4 ratio and duration of methimazole treatment were significantly higher than the relapse group. Conclusions Long-term methimazole treatment in pediatric Graves' disease would be appropriate. High fT4 levels at the time of diagnosis and male sex were associated with a risk of relapse.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2018-0495DOI Listing
April 2019