Publications by authors named "Ayfer Alikaşifoğlu"

73 Publications

Approach to pheochromocytoma and paraganglioma in children and adolescents: A retrospective clinical study from a tertiary care center.

J Pediatr Urol 2021 Feb 4. Epub 2021 Feb 4.

Hacettepe University, Institute of Health Sciences, Department of Medical and Surgical Research, Ankara, Turkey; Hacettepe University, Faculty of Medicine, Department of Pediatric Surgery, Ankara, Turkey.

Aim: Pheochromocytoma (PCC) and paraganglioma (PGL) are rare tumors in childhood. They are catecholamine secreting tumors and present with signs or symptoms related to their excess. Most common signs and symptoms are hypertension, headache and diaphoresis. The management of children usually depend on experience of adulthood. This study is conducted to present the clinical characteristics, surgical management and outcome of childhood PCC and PGL in a tertiary care center.

Material And Methods: We reviewed clinical records of all patients operated for PCC and PGL between 2000 and 2020 retrospectively.

Results: There were 18 children operated for PCC and PGL in the study period. The female to male ratio was 1:1. The median age at diagnosis was 13 (IQR, 9-15) years. The most common presenting symptoms were headache and diaphoresis. Hypertension was the most common sign. Three patients had von Hippel-Lindau (VHL). Tumors of two patients with VHL were detected during routine follow-up. Three patients had multifocal disease. Medical preparation for surgery was carried out in all patients. Antihypertensive treatments were administered preoperatively. Since the patients are at risk for postoperative hypotension due to chronic vasoconstriction and blood volume contraction, high salt diet was recommended. Intravenous normal saline at a rate of 3000 ml/m body surface area per day was started for intravascular volume expansion preoperatively. The mean duration for preoperative medication to achieve normal blood pressure was 22 days (range, 16-30). Twenty-five tumors were excised in eighteen patients. One patient who had bone metastases on diagnosis and is on IMIBG therapy. The median follow-up time was 5.6 years (range, 1 months - 21 years). Five patients reached adulthood during the study period. Four of these had recurrent metastases (n = 2) and new tumors (pancreatic neuroendocrine tumor, n = 1 and pancreatic neuroendocrine tumor and renal cell carcinoma, n = 1) after the age of 18.

Conclusion: Multidisciplinary approach is necessary to achieve safe surgical treatment and surveillance of PCC and PGL. Detection of associated familial cancer susceptibility syndromes and long-term follow-up is essential to detect late recurrences and new tumors.
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http://dx.doi.org/10.1016/j.jpurol.2021.01.043DOI Listing
February 2021

Alpha-Melanocyte-Stimulating Hormone is Elevated in Hypothalamic Obesity Associated with Childhood Craniopharyngioma.

Obesity (Silver Spring) 2021 Feb;29(2):402-408

Department of Pediatric Endocrinology, Hacettepe University, Ankara, Turkey.

Objective: The purpose of this study was to investigate the peripheral concentrations of leptin and neuropeptides taking part in the melanocortin pathway in hypothalamic obesity (HO) associated with craniopharyngioma (CP) and to find a peripheral marker for diagnosis.

Methods: Thirty-one patients (52% girls; median age 16 years) with CP were enrolled in the study group. They were grouped as CP with obesity (CP , n = 17) and CP without obesity (CP , n = 14). Two control groups without CP consisted of 27 children with obesity (OC) (55% girls; median age 13.8 years) and 25 children without obesity (normal control [NC]) (72% girls; median age 14.5 years). Obesity was defined as BMI percentile ≥ 95%. Fasting serum concentrations of leptin, brain-derived neurotrophic factor (BDNF), and alpha-melanocyte-stimulating hormone (α-MSH) were measured in the groups.

Results: Leptin and BDNF concentrations were correlated with BMI SD score (SDS) in controls (OC + NC) and CP. However, there was no correlation between α-MSH and BMI-SDS in CP or control groups. After adjusting for age, sex, and BMI-SDS, α-MSH was found to be significantly higher in CP than in other groups, whereas leptin and BDNF were comparable among the four groups.

Conclusions: Serum BDNF, just like leptin, increased with BMI, regardless of hypothalamic damage. On the contrary, α-MSH concentration was significantly high in HO, designating a potential biomarker for HO in CP.
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http://dx.doi.org/10.1002/oby.23087DOI Listing
February 2021

Which parameters predict the beneficial effect of GnRHa treatment on height in girls with central precocious puberty?

Clin Endocrinol (Oxf) 2021 Jan 18. Epub 2021 Jan 18.

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

Objective: Data about GnRHa on adult height in girls with central precocious puberty (CPP) have shown variable results, ranging from improvement of growth prognosis to lack of any benefit. This study was designed to delineate the criteria to decide which girls with idiopathic CPP (iCPP) will have a height benefit from GnRHa treatment.

Design: Retrospective PATIENTS: 102 girls with iCPP who had reached final height (FH) were included.

Measurements: Auxological, hormonal and radiological findings at treatment onset, and FHs were extracted from records.

Results: Most important factor affecting height gain was chronological age (CA) at treatment onset. All the girls treated ≤6.4 years of age achieved a height gain of ≥1SDS, while none of the girls treated ≥8.3 years of age made the target. 75.6% of patients who started GnRHa between the ages of 6.4 and 8.3 years had a height gain of ≥1SDS. Most important factors affecting height gain in those treated 6.4-8.3 years were advanced bone age (BA), basal estradiol (E ) and pubertal stage (r : 0.906; P < .001). All individuals with BA advancement of ≥2.6 years or E of ≥32.6 pg/ml or pubertal stage of ≥3 had significant height gain, and none of the cases with BA advancement of <2 years or E of <21.5 pg/ml or pubertal stage of <2 had a height gain of ≥1SDS.

Conclusions: Treatment with GnRHa is unquestionably beneficial to improve FH in girls with iCPP when initiated ≤6.4 years of age. GnRHa treatment after 8.3 years of age may not improve FH. Girls between the ages of 6.4 and 8.3 years at presentation can have a better height gain if BA (≥2.6 years over CA) and pubertal findings (pubertal stage ≥3 or E ≥32.6 pg/ml) are well-advanced.
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http://dx.doi.org/10.1111/cen.14420DOI Listing
January 2021

Adrenocortical tumours in children: a review of surgical management at a tertiary care centre.

ANZ J Surg 2021 Jan 12. Epub 2021 Jan 12.

Department of Medical and Surgical Research, Hacettepe University, Institute of Health Sciences, Ankara, Turkey.

Background: Adrenocortical tumours (ACT) are rare tumours of childhood usually presenting with endocrine dysfunction. This retrospective study is designed to review our institutional experience in surgical management.

Methods: Records of children treated for ACT between 1999 and 2019 were reviewed retrospectively.

Results: The median age of 24 children was 78 months. Fourteen patients had adrenocortical carcinoma, nine had adrenocortical adenoma and one had neuroendocrine differentiation of ACT. Endocrine dysfunction was noted in 79% of the patients. Five patients had preoperative chemotherapy but none had a decrease in tumour size. Transabdominal approach was used in all but two patients who had thoracoabdominal incision for excision of giant tumours and ipsilateral lung metastases. Two patients had visceral excision to achieve R0 resection. Five patients, four of whom had spillage and one with partial resection died of widespread disease. Two patients with stage 4 adrenocortical carcinoma are still on chemotherapy. All patients with stage I-III disease who had total excision without spillage (n = 17) are disease-free for 2-170 months.

Conclusions: Our results show the importance of excision in ACT without spillage for survival. However, multicentre prospective studies should enhance the knowledge of children about ACT and develop alternative therapies for stage III and IV cases.
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http://dx.doi.org/10.1111/ans.16542DOI Listing
January 2021

Basal serum thyroxine level should guide initial thyroxine replacement dose in neonates with congenital hypothyroidism.

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

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

Objective: Initial high-dose Na-L thyroxine (Na-LT4) (10-15 μg/kg/day) replacement for primary congenital hypothyroidism (CH) is recommended in guidelines. However, high-dose Na-LT4 has risks. In this study, we aimed to investigate normalizing effect of varying initial doses of Na-LT4 on serum thyroid hormone levels.

Methods: Fifty-two patients were analyzed retrospectively. The patients were classified into mild (27/51.9%), moderate (11/21.1%) and severe (14/26.9%) CH with respect to initial free thyroxine (FT4) levels. Time taken to achieve target hormone levels was compared within groups.

Results: Initial mean Na-LT4 doses for mild, moderate and severe disease were 6.9±3.3, 9.4±2.2 and 10.2±2 μg/kg/day. Serum FT4 levels reached the upper half of normal range (>1.32 ng/dL) in a median of 16, 13 and 16 days in patients with mild, moderate and severe CH with the mean time from initial treatment to first control visit 14.8 ± 6 days (range 1-36). There was no significant difference in terms of time to achieve target FT4 hormone levels according to disease severity (p=0.478). Seven (25.9%), 8 (72.7%) and 8 (57.1%) patients experienced hyperthyroidism (serum FT4 >1.94 ng/dL) in mild, moderate, severe CH groups in the first visit, respectively (p=0.016).

Conclusion: Not all patients diagnosed with CH require high-dose Na-LT4, initial dose of Na-LT4 may be tailored based on pre-treatment thyroid hormone levels. Some patients with moderate and severe CH, experienced iatrogenic hyperthyroidism even though the dose was close to the lower limit of the recommended range in guidelines; suggesting lower initial doses and closer follow-up within the first week.
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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0194DOI Listing
December 2020

Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.

Mol Syndromol 2020 Nov 16;11(4):207-216. Epub 2020 Sep 16.

Department of Medical Genetics, Hacettepe University Medical School, Ankara, Turkey.

Several endocrine disorders have been defined in patients with Costello syndrome (CS). In this report, we describe a patient with CS accompanied by a clinical picture of hyperinsulinemic hypoglycemia responsive to diazoxide treatment. A 41-day-old female patient with a birth weight of 3,600 g was referred for atypical facial features and swallowing dysfunction. She had a weight of 4,000 g (-0.8 SDS), a length of 50 cm (-2.4 SDS), and a head circumference of 38 cm (0.2 SDS). The clinical findings were suggestive of a genetic syndrome, mainly a RASopathy or Beckwith-Wiedemann syndrome. Whole exome sequencing revealed a de novo heterozygous missense variant in the (NM_001130442) gene in exon 2: c.35G>C; p.(Gly12Ala), establishing the molecular diagnosis of CS. The patient developed symptomatic hypoglycemia (jitteriness and sweating) at the age of 13 months. The patient's serum glucose was 38 mg/dL with simultaneous serum insulin and C-peptide levels, 2.8 μIU/mL and 1.8 ng/mL, respectively. Hyperinsulinism was suspected, and an exaggerated glucose response was detected in a glucagon test. Blood glucose monitoring indicated episodes of fasting hypoglycemia and postprandial hyperglycemia. Diazoxide of 10 mg/kg/day was initiated in 3 doses for hyperinsulinemic hypoglycemia, which resolved without new episodes of postprandial hyperglycemia. The patient deceased at the age of 17 months due to cardiorespiratory failure in the course of severe pneumonia complicated with pulmonary hypertension and hypertrophic cardiomyopathy. Several genetic syndromes including CS are associated with endocrinologic manifestations including abnormal glucose homeostasis. Although the frequency and underlying mechanisms leading to hyperinsulinemic hypoglycemia are yet unknown, hypoglycemia in CS responds well to diazoxide.
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http://dx.doi.org/10.1159/000510171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7675225PMC
November 2020

Gender-related differences in etiology of organic central precocious puberty.

Turk J Pediatr 2020 ;62(5):763-769

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

Background: Central precocious puberty (CPP) is idiopathic in 90% of girls and 60% of boys, while some cases are caused by lesions of central nervous system (CNS), a condition often referred to as organic CPP. We aimed to analyze the etiology of organic CPP in a large cohort of girls and boys and determine gender-related differences.

Methods: Medical files of 256 girls and 120 boys diagnosed and treated for CPP in a single center in the last two decades were reviewed. Patients were classified into four groups with respect to previous history and MRI findings: (1) previously established CNS pathology at the time of diagnosis, (2) novel CNS pathology previously asymptomatic, (3) incidentalomas considered to be unrelated to CPP, and (4) completely normal MRI. Group 1 and 2 were considered as organic CPP whereas group 3 and 4 were considered as idiopathic CPP.

Results: Prevalence of CNS pathology was significantly higher in boys than girls (21.7% vs 6.2%). Previous CNS pathologies such as developmental anomaly of CNS, parenchymal injury, necrotic lesions and hydrocephalus were present in 3.5% of girls and 8.3% of boys. Prevalence of novel CNS pathology as determined by imaging among neurologically asymptomatic patients was 2.8% in girls and 14.5% in boys. The most common novel CNS pathologies in boys were hamartomas (5%) and suprasellar arachnoid cysts (3.3%); which were significantly lower in girls (0.8 and 0.8% respectively). Onset of organic CPP was before six years in girls, and seven years in boys.

Conclusions: Organic CPP was 3.5 times more common in boys compared to girls. It is possible to detect an underlying CNS pathology in one out of every five boys with CPP. Frequency and distribution of organic etiology also differ between girls and boys, hypothalamic hamartomas and suprasellar arachnoid cysts being more common in boys than girls. The likelihood of novel intracranial pathology associated with CPP is quite low in girls with an onset after six years of age and in boys with an onset after seven years of age.
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http://dx.doi.org/10.24953/turkjped.2020.05.007DOI Listing
January 2020

Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?

J Pediatr Endocrinol Metab 2020 Dec 8;33(12):1617-1624. Epub 2020 Oct 8.

Division of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.

Objectives: Osteogenesis imperfecta type VI (OI VI) follows a progressive and severe course, yet unlike other forms of severe OI it has a later onset of fractures, and extra-skeletal findings are not part of the clinical picture. Another difference is that there is an increase in unmineralized osteoid tissue in OI VI, which hinders the effect of bisphosphonates-the current standard of treatment for OI. Therefore, the response to standard treatments in OI VI is not satisfactory. Herein, we report long-term follow-up of two cases with novel mutations, who show great variation in their treatment response to bisphosphonates.

Case Presentation: The first case was given pamidronate at the age of 15 months when he could sit independently, followed a fluctuating course under treatment, fracture rate did not decrease, however he was able to mobilize with walker at the age of 10 years. On the other hand, the second case developed severe deformities and became wheelchair-bound under pamidronate, thus the treatment was switched to denosumab. Unfortunately, there was no improvement under denosumab after 15 months too, and since bone pain increased, denosumab treatment was stopped. He was put on zoledronic acid instead.

Conclusion: transcript amount may be an important factor to explain the variation in response to pamidronate therapy. In OI VI patients, the factors affecting the clinical course should be identified and new or combined treatment options should be established.
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http://dx.doi.org/10.1515/jpem-2020-0260DOI Listing
December 2020

Obstructive sleep apnea in children with hypothalamic obesity: Evaluation of possible related factors.

Pediatr Pulmonol 2020 12 6;55(12):3532-3540. Epub 2020 Oct 6.

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

Introduction: Hypothalamic obesity (HO) is a type of obesity that is caused by hypothalamic damage. HO can be complicated by obstructive sleep apnea syndrome (OSAS) due to anatomical narrowing of the upper airway and hypothalamic damage-induced dysfunction of the sleep control mechanisms. We aimed to explore the presence and severity of OSAS in children with HO and hypothesized that OSAS is more severe and frequent in HO than exogenous obesity (EO).

Methods: This cross-sectional study was conducted among children aged 6.6-17.9 years. Subjects with HO (n = 14) and controls with EO (n = 19) were consecutively recruited through an endocrinology clinic. All patients underwent full-night polysomnography. The primary outcomes were obstructive apnea-hypopnea index (OAHI) and the severity of OSAS. We analyzed the polysomnography findings, biochemical parameters, Brodsky and modified Mallampati scores, and blood pressure compared with the controls. We explored the different obesity types and these variables in association with OAHI using multiple linear regression (MLR).

Results: Age and body mass index z scores (BMI-z) were similar between the EO and HO groups. The OAHI of HO (5.8) was higher than that of EO (2.2). In MLR, the predicted OAHI was formulated as an equation using regression coefficients of obesity type (HO), age, and BMI-z (R  = .41). In the logistic regression analysis, the odds ratio of moderate/severe OSA was 5.6 for HO.

Conclusions: Children with HO have a higher risk of moderate/severe OSAS than children with EO. Polysomnography should be considered in all patients with HO.
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http://dx.doi.org/10.1002/ppul.25097DOI Listing
December 2020

Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.

Pediatr Diabetes 2020 Nov 10;21(7):1176-1182. Epub 2020 Sep 10.

Department of Medical Genetics, Hacettepe University, Ankara, Turkey.

Background: A number of inborn errors of metabolism caused by abnormal protein trafficking that lead to endoplasmic reticulum storage diseases (ERSD) have been defined in the last two decades. One such disorder involves biallelic mutations in the gene encoding endoplasmic reticulum resident co-chaperone DNAJC3 (P58 ) that leads to diabetes in the second decade of life, in addition to multiple endocrine dysfunction and nervous system involvement.

Objective: The aim of this study was to define the natural history of this new form of diabetes, especially the course of abnormalities related to glucose metabolism.

Methods: Whole-exome and Sanger sequencing was used to detect DNAJC3 defect in two patients. Detailed analysis of their clinical history as well as biochemical, neurological and radiological studies were carried out to deduce natural history of neurological and endocrine phenotype.

Results: DNAJC3 defect led to beta-cell dysfunction causing hyperinsulinemichypoglycemia around 2 years of age in both patients, which evolved into diabetes with insulin deficiency in the second decade of life, probably due to beta cell loss. Endocrine phenotype involved severe early-onset growth failure due to growth hormone deficiency, and hypothyroidism of central origin. Neurological phenotype involved early onset sensorineural deafness discovered around 5 to 6 years, and neurodegeneration of central and peripheral nervous system in the first two decades of life.

Conclusion: Biallelic loss-of-function in the ER co-chaperone DNAJC3 leads to a new form of diabetes with early onset hyperinsulinemic hypoglycemia evolving into insulin deficiency as well as severe growth failure, hypothyroidism and diffuse neurodegeneration.
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http://dx.doi.org/10.1111/pedi.13098DOI Listing
November 2020

Adequacy of basal luteinizing hormone levels in the diagnosis of central precocious puberty.

Turk Pediatri Ars 2020 19;55(2):131-138. Epub 2020 Jun 19.

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

Aim: To determine the clinical, anthropometric, and laboratory parameters that could be used for differentiating central precocious puberty from premature thelarche in girls who had breast development between the ages of 3 and 8 years.

Material And Methods: The study included 344 girls (196 girls with idiopathic central precocious puberty, 148 girls with premature thelarche) who underwent gonadotropin- releasing hormone stimulation tests for breast development. Age at diagnosis, bone age, anthropometric measurements, basal/stimulated hormone levels were recorded. Univariate regression analysis was performed to determine the parameters that could be used for differentiating precocious puberty from premature thelarche. Significant parameters in univariate analyses were grouped according to the thresholds determined using receiver operating characteristic curves and reevaluated through multivariate analysis.

Results: The bone age, height-standard deviation score, body mass index-standard deviation score, and growth velocity-standard deviation score at diagnosis were found to be higher; pubertal stages were found to be more advanced; uterus and ovary volumes were found to be larger; and the basal/peak luteinizing hormone, follicle-stimulating hormone, luteinizing hormone/follicle-stimulating hormone levels were found to be higher in the subjects with precocious puberty. There was no difference between estradiol levels between the two groups. The best thresholds to differentiate the two groups were found as 0.65 IU/L (78% sensitivity, 100% specificity), 1.9 IU/L (100% sensitivity, 72% specificity), 0.25 (67% sensitivity, 100% specificity) and 1.1 (69% sensitivity, 71% specificity), respectively, for basal luteinizing hormone, follicle-stimulating hormone, luteinizing hormone/follicle-stimulating hormone ratio, and the growth velocity-standard deviation score.

Conclusion: In girls presenting with early breast development, a basal luteinizing hormone level of ≥0.65 IU/L and a luteinizing hormone/follicle-stimulating hormone ratio of ≥0.25 are sensitive ways to demonstrate activation of the hypothalamo-pituitary-gonadal axis. Among these, the variable that gives the best sensitivity and specificity is the measurement of basal luteinizing hormone levels (≥0.65 IU/L), which can be used as a screening test in the diagnosis of central precocious puberty.
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http://dx.doi.org/10.14744/TurkPediatriArs.2019.03708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7344123PMC
June 2020

Effect of long-term glucocorticoid therapy on bone mineral density of the patients with congenital adrenal hyperplasia.

Turk J Pediatr 2020 ;62(3):359-366

Division of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.

Background And Objectives: Congenital adrenal hyperplasia (CAH) is characterized by androgen excess which should be treated with life-long glucocorticoid therapy, thus can affect bone mineralization. We aimed to evaluate the bone mineral density (BMD) and determine the factors affecting bone mineralization in patients with CAH.

Method: This prospective case-control study was conducted in children, adolescents and young adults with classical 21-hydroxylase CAH, and age-, sex-, and pubertal stage matched healthy controls. Lumbar1-4 BMD was determined by dual-energy X-ray absorptiometry. BMD z-score was calculated using national standards with respect to height age and was referred as `low BMD` if z-score < -1 SD. Univariate analyses were performed between low BMD and normal BMD groups, and multivariate logistic regression analysis was performed to assess the independent predictors of low BMD. Correlations of Body Mass Index (BMI)-z-score, average serum 17-hydroxyprogesterone level, duration of treatment, average and cumulative glucocorticoid doses with BMD z-score were evaluated with Spearman analyses.

Results: Each group included 37 cases. BMD z-score of patients with CAH [0.47 (-0.04 - 1.56)] was higher than control group [-0.43 (-0.82 -0.05)]; p= < 0.001. Number of patients with low BMD was similar in both groups; [CAH: 6(16.2%), control: 5(13.5%); p= 0.744]. BMI- z-score was higher in patients with CAH when compared to control group; p= < 0.001. BMI z-score was lower in low BMD group as comparison to normal BMD group; p= 0.041. Each 1.0 decrease in BMI z-score, risk of having low BMD was found to increase by 1.79 (%95 CI: 1.03- 3.12, p= 0.040). BMI-z-score, average serum 17-hydroxyprogesterone level, duration of treatment, average and cumulative glucocorticoid doses were not found to be correlated with BMD z-score.

Conclusion: Long-term glucocorticoid therapy did not have negative effect on BMD of patients with CAH. Higher BMI z-score in patients with CAH may have a positive effect on preserving bone health. Precautions should be taken for increased risk of obesity.
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http://dx.doi.org/10.24953/turkjped.2020.03.002DOI Listing
January 2020

Oral health and halitosis among type 1 diabetic and healthy children.

J Breath Res 2020 07 3;14(3):036008. Epub 2020 Jul 3.

Department of Pediatric Dentistry, Hacettepe University Faculty of Dentistry, Ankara, Turkey.

Aim: To evaluate the oral health status, oral health related habits and halitosis of children with and without type 1 diabetes.

Materials And Methods: In this study the oral health status of children with and without type 1 diabetes were evaluated by using different indices (dmft/DMFT, International Caries Detection and Assessment System(ICDAS) II, pufa, gingival and periodontal indices). Halitosis was determined by organoleptic assessment and sulfur monitoring.

Results: One hundred children with the age range between 6-13 years, 50 type 1 diabetics (24 boys,26 girls) with mean age (±sd) of 10.3 ± 2.1 years and 50 healthy (30 boys, 20 girls) with mean age (±sd) of 9.9 ± 1.5 years, participated in the study. The median values of dmft and dmfs was lower in children with type 1 diabetes, while for DMFT and DMFS indices were similar with the healthy group. Cavitated caries lesions were observed in 60.0% of children with diabetes and in 58.0% of healthy children. According to the ICDAS II index, 42.0% of children with diabetes and 56.0% of healthy children had severe decay. The mean plaque index was statistically significantly less in diabetic children (p = 0.04). In 12.0% of children with type 1 diabetes and in 18.0% of healthy children, volatile sulfur compounds (VSC) were determined to be ≥150 ppb and the most diagnosed score was 1 in both groups. In diabetic children with the cut off value of 7.5% HbA1c, there was no statistically significant difference in oral health indices results and VSC scores.

Conclusion: Findings of the present study are insufficient to support a significant effect of diabetes on increasing the risk of oral and periodontal diseases. Nonetheless, it is important to emphasize the importance of oral and dental health, regular oral care and dental visits both to the patients with type 1 diabetes and their parents.
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http://dx.doi.org/10.1088/1752-7163/ab8d8bDOI Listing
July 2020

Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

J Clin Endocrinol Metab 2020 03;105(3)

Department of Medicine, The University of Chicago, Chicago, Illinois.

Context: Selenocysteine insertion sequence binding protein 2 (SECISBP2, SBP2) is an essential factor for selenoprotein synthesis. Individuals with SBP2 defects have characteristic thyroid function test (TFT) abnormalities resulting from deficiencies in the selenoenzymes deiodinases. Eight families with recessive SBP2 gene mutations have been reported to date. We report 2 families with inherited defect in thyroid hormone metabolism caused by 4 novel compound heterozygous mutations in the SBP2 gene.

Case Descriptions: Probands 1 and 2 presented with growth and developmental delay. Both had characteristic TFT with high T4, low T3, high reverse T3, and normal or slightly elevated TSH. The coding region of the SBP2 gene was sequenced and analysis of in vitro translated wild-type and mutant SBP2 proteins was performed. Sequencing of the SBP2 gene identified novel compound heterozygous mutations resulting in mutant SBP2 proteins E679D and R197* in proband 1, and K682Tfs*2 and Q782* in proband 2. In vitro translation of the missense E679D demonstrated all four isoforms, whereas R197* had only 2 shorter isoforms translated from downstream ATGs, and Q782*, K682Tfs*2 expressed isoforms with truncated C-terminus. Reduction in serum glutathione peroxidase enzymatic activity was also demonstrated in both probands.

Conclusions: We report 2 additional families with mutations in the SBP2 gene, a rare inherited condition manifesting global selenoprotein deficiencies. Report of additional families with SBP2 deficiency and their evaluation over time is needed to determine the full spectrum of clinical manifestations in SBP2 deficiency and increase our understanding of the role played by SBP2 and selenoproteins in health and disease.
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http://dx.doi.org/10.1210/clinem/dgz169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034949PMC
March 2020

Long-term effects of GnRH agonist treatment on body mass index in girls with idiopathic central precocious puberty.

J Pediatr Endocrinol Metab 2020 Jan;33(1):99-105

Division of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.

Introduction Studies evaluating effects of gonadotropin-releasing hormone agonist (GnRHa) on weight and body-mass-index (BMI) in girls with idiopathic central precocious puberty (iCPP) include short-term effects. The aim of this study is to investigate changes in BMI during and 2 years after completion of GnRHa to determine the factors that may impact BMI in girls with iCPP. Methods Medical files of 138 girls who completed GnRHa were evaluated. All patients had weight and height measurements at the beginning and end of treatment, and 111 patients had anthropometric measurements 2 years after the completion of treatment. Results In the beginning, 82 (59.4%) had normal weight (NW), 42 (30.4%) were overweight (OW), and 14 (10.2%) were obese (OB). Analysis of BMI-standard deviation score (SDS) in the whole group showed an overall increase during GnRHa treatment (0.92 ± 0.74 vs. 1.20 ± 0.51, p < 0.001). Changes in BMI-SDS (ΔBMI-SDS) during GnRHa differed between NW and OW/OB (0.45 ± 0.31 vs. 0.03 ± 0.20, p < 0.001). BMI-SDSs of both groups returned to baseline scores (or initial levels) 2 years after the completion of treatment. Two factors affecting ΔBMI-SDS in multiple linear regression analyses were baseline BMI and Δheight-SDS, both correlated negatively with ΔBMI-SDS. Conclusions The present study is one of the studies evaluating BMI change over a long period of time in girls with CPP. Although BMI-SDS increased during GnRHa in NW girls, it was reversible in follow-up after treatment. However, BMI-SDS did not change during and in follow-up in OW/OB girls. Conserving BMI-SDS in OW/OB girls may be related to the fact that weight management programs were recommended for these patients. Dietary recommendations should be provided for children with NW who undergo GnRHa, as is the case for OW patients.
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http://dx.doi.org/10.1515/jpem-2019-0214DOI Listing
January 2020

Treatment with Depot Leuprolide Acetate in Girls with Idiopathic Precocious Puberty: What Parameter should be Used in Deciding on the Initial Dose?

J Clin Res Pediatr Endocrinol 2020 03 26;12(1):37-44. Epub 2019 Jul 26.

Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey

Objective: Doses of gonadotropin releasing hormone (GnRH) analogues used to treat idiopathic central precocious puberty (iCPP) vary among clinicians. Study aims were to evaluate the efficacy of a monthly 3.75 mg dose of leuprolide acetate (LA) to suppress the hypothalamo-pituitary-gonadal (HPG) axis in girls with iCPP and to determine factors that may have an impact on the supressing dose.

Methods: Study subjects were 220 girls receiving LA for iCPP. LA was started at a dose of 3.75 mg/28 days. Suppression was assessed using the GnRH test at the third month. To assess clinical suppression signs and symptoms of puberty were also evaluated. The dose of LA was increased to 7.5 mg/28 days in those who had a peak luteinising hormone (LH) ≥2 IU/L and in whom adequate clinical suppression of puberty was absent. Receiver operating characteristic curves were used to determine thresholds for clinical and hormonal factors affecting the suppressing dose of LA. Logistic regression analyses were used to investigate thresholds which might differentiate between those requiring high dose for suppression and those in whom lower dose LA was adequate.

Results: Peak stimulated LH <2 IU/L was achieved in 88.6% with a dose of LA of 3.75 mg (0.11±0.03 mg/kg). Significant variables for differentiating the two doses were body weight (Wt) of 36.2 kg and/or body mass index (BMI)-standard deviation scores (SDS) of 1.64 (p<0.001). Multiple logistic regressions showed that Wt and BMI-SDS values above thresholds indicated requirement of LA at a dose of 7.5 mg/28 days (p<0.001).

Conclusion: Monthly injections of 3.75 mg LA is an effective treatment in the majority of girls with iCPP. However, a higher initial dose may be preferred in patients with a Wt ≥36 kg or BMI-SDS ≥1.6 for effective suppression of the HPG axis.
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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127887PMC
March 2020

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

Am J Med Genet A 2019 07 13;179(7):1157-1172. Epub 2019 Apr 13.

Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

3M syndrome is characterized by severe pre- and postnatal growth retardation, typical facial features, and normal intelligence. Homozygous or compound heterozygous mutations in either CUL7, OBSL1, or CCDC8 have been identified in the etiology so far. Clinical and molecular features of 24 patients (23 patients and a fetus) from 19 unrelated families with a clinical diagnosis of 3M syndrome were evaluated and genotype-phenotype correlations were investigated with the use of DNA sequencing, chromosomal microarray, and whole exome sequencing accordingly. A genetic etiology could be established in 20 patients (n = 20/24, 83%). Eleven distinct CUL7 or OBSL1 mutations, among which eight was novel, were identified in 18 patients (n = 18/24, 75%). Ten patients had CUL7 (n = 10/18, 56%) while eight had OBSL1 (n = 8/18, 44%) mutations. Birth weight and height standard deviation scores at admission were significantly (p < 0.05) lower in patients with CUL7 mutation compared to that of patients with OBSL1 mutation. Two patients with a similar phenotype had a de novo 20p13p deletion involving BMP2. No genetic etiology could be established in four patients (n = 4/28, 17%). This study yet represents the largest cohort of 3M syndrome patients from a single center in Turkey. Microdeletions involving BMP2 may cause a phenotype similar to 3M syndrome with some distinctive features. Larger cohort of patients are required to establish genotype-phenotype correlations in 3M syndrome.
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http://dx.doi.org/10.1002/ajmg.a.61154DOI Listing
July 2019

Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.

Pediatr Neurol 2018 11 27;88:71-74. Epub 2018 Jul 27.

Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address:

Background: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes.

Methods: We report four new patients from two families with the c.437G→A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment.

Results: Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy.

Conclusions: In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome.
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.07.008DOI Listing
November 2018

Can having a sibling with type 1 diabetes cause disordered eating behaviors?

J Pediatr Endocrinol Metab 2018 Jul;31(7):711-716

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

Background Adolescents with type 1 diabetes mellitus (T1DM) are at an increased risk of eating disturbances. The aim of this study was to evaluate whether the risk of a disordered eating behavior (DEB) also applies to the well sibling sharing the same environment. Methods Well siblings were included if they were 10-18 years old, had a sibling with a T1DM diagnosis for at least 6 months and lived with the sibling during the illness. The control group was comprised of healthy participants recruited from the outpatient clinic with no family history of T1DM. Participants completed a four-part questionnaire concerning their eating behaviors that was developed by the study team. This survey aimed to evaluate the dietary habits and eating patterns. All participants completed the Eating Attitudes Test-26 (EAT-26) and a 24-h food dietary recall. Any participant with a high EAT-26 score or that seemed to be at risk according to the questionnaire was re-evaluated. Results Eight cases (33.3%) in the well sibling group had either a total and/or subgroup pathological score. Three of them were found to have DEB and one case was diagnosed with anorexia nervosa (AN). In the control group, five cases (17.2%) had either a total and/or subgroup pathological score. Three of these cases were found to have DEB, no cases were diagnosed with an eating disorder. There were no statistically significant differences in the EAT-26 scores between the groups. Conclusions Although a direct relationship was not observed, the probability of having a pathologic EAT-26 score was higher in the group with a sibling with T1DM.
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http://dx.doi.org/10.1515/jpem-2017-0533DOI Listing
July 2018

A pheochromocytoma case diagnosed as adrenal incidentaloma.

Turk J Pediatr 2017 ;59(2):200-206

Division of Pediatric Endocrinology Departments of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Vurallı D, Kandemir N, Clark G, Orhan D, Alikaşifoğlu A, Gönç N, Ekinci S, Özön A. A pheochromocytoma case diagnosed as adrenal incidentaloma. Turk J Pediatr 2017; 59: 200-206. There are two problems that needs to be addressed in cases of an adrenal incidentaloma. The first is to decide whether the adrenal mass is benign or malignant, and the second is to determine whether the mass is hormonally active or not. A 17-year-old male was admitted with the complaint of progressive weight gain. Abdominal ultrasonography was performed for elevation in transaminases which revealed a hypoechoic mass located in the left adrenal gland. Hormonal investigations revealed an increase in fractionated catecholamine and metanephrine levels in 24-hour urine. Surgery was performed and pathological examination was in accordance with pheochromocytoma. Mutation analysis was carried out. This is a rare case of pheochromocytoma presenting as adrenal incidentaloma during adolescence. In view of this case, we review the approach to incidentally discovered adrenal masses and the approach to pheochromocytoma. A mutation analysis should be performed on all cases with pheochromocytoma that are diagnosed below age 20.
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http://dx.doi.org/10.24953/turkjped.2017.02.015DOI Listing
November 2018

Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy.

J Clin Res Pediatr Endocrinol 2017 09 7;9(3):283-287. Epub 2017 Jun 7.

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

Proprotein convertase 1/3 (PC1/3) deficiency is a very rare disease characterized by severe intractable diarrhea in the first years of life, followed by obesity and several hormonal deficiencies later. Diabetes mellitus requiring insulin treatment and diabetic ketoacidosis have not been reported in this disorder. We herein present a girl with PC1/3 deficiency who has been followed from birth to 17 years of age. She developed deficiencies of all pituitary hormones over time as well as diabetes mellitus while receiving growth hormone (GH) therapy. She was complicated with diabetic ketoacidosis during dietary management of diabetes mellitus, thus insulin treatment was initiated. Insulin requirement to regulate hyperglycemia was short-lived. Repeat oral glucose tolerance test five years later was normal. The findings of this patient show that diabetes mellitus can develop at any time during follow-up of cases with proportein convertase 1/3 deficiency especially under GH therapy.
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http://dx.doi.org/10.4274/jcrpe.3986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596812PMC
September 2017

Clinical and laboratory parameters predicting a requirement for the reevaluation of growth hormone status during growth hormone treatment: Retesting early in the course of GH treatment.

Growth Horm IGF Res 2017 06 10;34:31-37. Epub 2017 May 10.

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

Objective: We aimed to define the predictive criteria, in the form of specific clinical, hormonal and radiological parameters, for children with growth hormone deficiency (GHD) who may benefit from the reevaluation of GH status early in the course of growth hormone (GH) treatment.

Design And Methods: Two hundred sixty-five children with growth hormone deficiency were retested by GH stimulation at the end of the first year of GH treatment. The initial clinical and laboratory characteristics of those with a normal (GH≥10ng/ml) response and those with a subnormal (GH<10ng/ml) response were compared to predict a normal GH status during reassessment.

Results: Sixty-nine patients (40.6%) out of the 170 patients with isolated growth hormone deficiency (IGHD) had a peak GH of ≥10ng/ml during the retest. None of the patients with multiple pituitary hormone deficiency (MPHD) had a peak GH of ≥10ng/ml. Puberty and sex steroid priming in peripubertal cases increased the probability of a normal GH response. Only one patient with IGHD who had an ectopic posterior pituitary without stalk interruption on MRI analysis showed a normal GH response during the retest. Patients with a peak GH between 5 and 10ng/ml, an age at diagnosis of ≥9years or a height gain below 0.61 SDS during the first year of treatment had an increased probability of having a normal GH response at the retest.

Conclusion: Early reassessment of GH status during GH treatment is unnecessary in patients who have MPHD with at least 3 hormone deficiencies. Retesting at the end of the first year of therapy is recommended for patients with IGHD who have a height gain of <0.61 SDS in the first year of treatment, especially those with a normal or 'hypoplastic' pituitary on imaging. Priming can increase the likelihood of a normal response in patients in the pubertal age group who do not show overt signs of pubertal development.
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http://dx.doi.org/10.1016/j.ghir.2017.05.003DOI Listing
June 2017

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Proc Natl Acad Sci U S A 2017 03 22;114(10):E1933-E1940. Epub 2017 Feb 22.

Division of Adrenal Steroid Disorders, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029;

Congenital adrenal hyperplasia (CAH), resulting from mutations in , a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive. We find that 11-deoxycortisol, not frequently measured, is the most robust biochemical marker for diagnosing 11β-hydroxylase deficiency. Finally, computational modeling of 25 missense mutations of revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11β-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe disease. Thus, we report clinical, genetic, hormonal, and structural effects of gene mutations in the largest international cohort of 108 patients with steroid 11β-hydroxylase deficiency CAH.
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http://dx.doi.org/10.1073/pnas.1621082114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347606PMC
March 2017

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.

J Steroid Biochem Mol Biol 2017 01 5;165(Pt A):57-63. Epub 2016 Mar 5.

Hacettepe University, Pediatric Metabolism Unit, Institute of Child Health, Ankara, Turkey.

11β-Hydroxylase deficiency is the second most frequent type of congenital adrenal hyperplasia and is more common in those of Turkish descent than in other populations. The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish patients with 11β-hydroxylase deficiency. Twenty-eight patients from 24 families, ages ranging from 0.1 to 7 years, were included in the study. Clinical diagnosis was based on virilization and high levels of 11-deoxycortisol. Twenty-six cases exhibited the classical and 2 cases the non-classical form. Mutation screening of 9 CYP11B1 exons was performed by direct DNA sequence analysis, specifically amplifying CYP11B1 gene fragments while avoiding simultaneous amplification of homologous CYP11B2 gene sequences. Seventeen different mutations were detected, 6 of which are novel (p.Gln189Hisfs*70, p.Glu198Gly, p.Thr318Lys, p.Gly446Ser, IVS8+5G>C and exon 3-5 del). All of the identified mutations resulted in the classical form with severe virilization, except for the p.Gly446Ser mutation, which caused a late-onset type of 11β-hydroxylase deficiency. The c.954G>A;p.Thr318Thr mutation was the most common in our cohort, with an allele frequency of 14.6%.Of the CYP11B1 gene mutations detected, 75% were found in exons 3, 5 and 7 and the half of the mutations were nonsense, splice site, deletion or insertion mutations, causing severe virilization in female patients. The findings are important for genetic counseling and the prenatal diagnosis of Turkish patients with 11β-hydroxylase deficiency.
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http://dx.doi.org/10.1016/j.jsbmb.2016.03.006DOI Listing
January 2017

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.

J Clin Res Pediatr Endocrinol 2015 Sep;7(3):249-52

Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey Phone: +90 312 305 11 24 E-mail:

17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17β-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region. The low T/Δ4 ratio after human chorionic gonadotropin (hCG) stimulation suggested 17β-HSD3 deficiency. A homozygous mutation, c.761_762delAG, was determined at the intron 9/exon 10 splice site of the HSD17B3 gene. To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17β-HSD3 which may explain the phenotype of our patient.
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http://dx.doi.org/10.4274/jcrpe.2069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677563PMC
September 2015

Hyperthyroidism After Allogeneic Hematopoietic Stem Cell Transplantation: A Report of Four Cases.

J Clin Res Pediatr Endocrinol 2015 Dec;7(4):349-54

Hacettepe University Faculty of Medicine, Department of Pediatrics, Ankara, Turkey Phone: +90 312 305 11 68 E-mail:

Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for many hematological disorders, primary immunodeficiencies, and metabolic disorders. Thyroid dysfunction is one of the frequently seen complications of HSCT. However, hyperthyroidism due to Graves' disease, autoimmune thyroiditis, and thyrotoxicosis are rare. Herein, we report a series of 4 patients who were euthyroid before HSCT but developed hyperthyroidism (3 of them developed autoimmune thyroid disease) after transplantation.
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http://dx.doi.org/10.4274/jcrpe.2295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805214PMC
December 2015

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

J Clin Res Pediatr Endocrinol 2016 Mar 18;8(1):96-100. Epub 2015 Dec 18.

Hacettepe University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey, E-mail:

Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD.
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http://dx.doi.org/10.4274/jcrpe.2070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805056PMC
March 2016

An Adolescent Boy with Comorbid Anorexia Nervosa and Hashimoto Thyroiditis.

J Clin Res Pediatr Endocrinol 2016 Mar 18;8(1):92-5. Epub 2015 Dec 18.

Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Clinic of Pediatrics, Division of Adolescent Medicine, Ankara, Turkey, E-mail:

Low triiodothyronine syndrome is a physiological adaptation encountered in anorexia nervosa (AN) and generally improves with sufficient weight gain. However, when a primary thyroid pathology accompanies AN, both the evaluation of thyroid hormone levels and the management of the co-morbid disease become more challenging. Hashimoto thyroiditis could complicate the management of AN by causing hyper- or hypothyroidism. AN could also negatively affect the treatment of Hashimoto thyroiditis by altering body weight and metabolic rate, as well as by causing drug non-compliance. We present the case of a 15-year-old boy with comorbid AN restrictive sub-type and Hashimoto thyroiditis. In this case report, we aimed to draw attention to the challenges that could be encountered in the diagnosis, treatment, and follow-up of patients with AN when accompanied by Hashimoto thyroiditis.
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http://dx.doi.org/10.4274/jcrpe.2297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805055PMC
March 2016