257 results match your criteria International Journal of Pediatric Endocrinology [Journal]


Poor growth response during the first year of growth hormone treatment in short prepubertal children with growth hormone deficiency and born small for gestational age: a comparison of different criteria.

Int J Pediatr Endocrinol 2018 22;2018. Epub 2018 Oct 22.

The BElgian Society for PEdiatric Endocrinology and Diabetology (BESPEED), Laarbeeklaan 101, 1090 Brussels, Belgium.

Background: There is no consensus on the definition of poor growth response after the first year of growth hormone (GH) treatment. We determined the proportion of poor responders identified by different criteria in children with GH deficiency (GHD) and born small for gestational age (SGA). The second aim was to analyze the IGF-1 response in poor growth responders. Read More

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http://dx.doi.org/10.1186/s13633-018-0064-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196419PMC
October 2018
2 Reads

Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada.

Int J Pediatr Endocrinol 2018 10;2018. Epub 2018 Sep 10.

2Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Saskatchewan, Saskatoon, Canada.

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common cause of primary adrenal insufficiency in children. Current guidelines recommend the use of perioperative stress dose (supraphysiologic) glucocorticoids for children with CAH undergoing anesthesia, although a perceived difference in practice patterns among Canadian pediatric subspecialists prompted an assessment of perioperative glucocorticoid administration.

Methods: We performed a cross-sectional survey of Canadian Pediatric Anesthesia Society (CPAS) and Canadian Pediatric Endocrine Group (CPEG) members via membership email lists to assess reported practice patterns to select clinical scenarios. Read More

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http://dx.doi.org/10.1186/s13633-018-0063-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131860PMC
September 2018

Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence.

Int J Pediatr Endocrinol 2018 6;2018. Epub 2018 Aug 6.

Department of Pediatrics, Johns Hopkins University School of Medicine, 200 N Wolfe St, Rm 3120, Baltimore, MD 21287 USA.

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominant disease that generally presents with primary hyperparathyroidism. However, initial presentation may vary and continued reevaluation of etiology of symptoms is required for appropriate diagnosis.

Case Presentation: Twelve year old female presented with altered mental status that self-resolved and hypoglycemia. Read More

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https://ijpeonline.biomedcentral.com/articles/10.1186/s13633
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http://dx.doi.org/10.1186/s13633-018-0061-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6091168PMC
August 2018
11 Reads

Real-world efficacy and safety of insulin degludec with mealtime rapid-acting insulin in type 1 diabetes in Indian pediatric population.

Int J Pediatr Endocrinol 2018 27;2018. Epub 2018 Jul 27.

Indraprastha Apollo Hospital, New Delhi, India.

Background: Insulin Degludec (IDeg) is a new ultra-long-acting basal insulin that has not been yet evaluated in Indian pediatric population. We aim to evaluate the efficacy and safety of IDeg as basal-bolus therapy in Indian pediatric patients affected by type 1 diabetes mellitus (T1DM).

Methods: A total of 30 pediatric and adolescent patients (17 boys, 13 girls; 22 were pre-pubertal) with T1DM who were on IDeg once daily participated in the study. Read More

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http://dx.doi.org/10.1186/s13633-018-0059-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064114PMC
July 2018
3 Reads

Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic and gene variants.

Int J Pediatr Endocrinol 2018 17;2018. Epub 2018 Jul 17.

1Children's Mercy Kansas City, Division of Pediatric Endocrinology, 3101 Broadway Blvd, Kansas City, MO 64111 USA.

Background: Congenital hyperinsulinism (CHI) is the leading cause of persistent hypoglycemia in infants. The infants of diabetic mothers (IDMs) very frequently present with neonatal hypoglycemia associated to transient hyperinsulinism however the incidence of CHI in IDMs is unknown.

Case Presentation: Here we report 2 cases of CHI where the diagnoses were challenged and delayed because both patients were infants of diabetic mothers (IDMs) and had concomitant complicated medical conditions. Read More

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http://dx.doi.org/10.1186/s13633-018-0060-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050669PMC

Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study.

Int J Pediatr Endocrinol 2018 26;2018. Epub 2018 Jun 26.

Department of Paediatric Endocrinology, Alder Hey Children's Hospital NHS Trust, Liverpool, UK.

Background: Early diagnosis of girls with Turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or ≥ two dysmorphic features. The aim of the study was to determine the age and clinical features at the time of presentation and to identify potential delays in diagnosis of TS. Read More

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http://dx.doi.org/10.1186/s13633-018-0058-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019720PMC

Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience.

Int J Pediatr Endocrinol 2018 27;2018. Epub 2018 Mar 27.

2Department of Paediatric Endocrinology, Alder Hey Children's Hospital, L14 5AB, Liverpool, UK.

Background: The factory calibrated FreeStyle Libre (FSL) flash glucose monitoring system has been recently introduced for use in patients with diabetes mellitus. There are no reports available regarding its use in patients with congenital hyperinsulinism (CHI). We have assessed the accuracy of FSL compared to the finger prick capillary blood glucose (CBG) over 2 weeks period in patients with CHI and evaluated the parents' experience of using FSL. Read More

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http://dx.doi.org/10.1186/s13633-018-0057-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870486PMC
March 2018
8 Reads

A novel, homozygous mutation in () in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.

Int J Pediatr Endocrinol 2018 2;2018. Epub 2018 Mar 2.

1Department of Endocrinology and Diabetes, Princess Margaret Hospital, Subiaco, WA Australia.

Background: () mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with mutations. Herein we report a novel, homozygous mutation of identified through a targeted, massively parallel sequencing (MPS) DSD panel, in a patient presenting with partial gonadal dysgenesis. Read More

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http://dx.doi.org/10.1186/s13633-018-0056-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834851PMC
March 2018
11 Reads

Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome.

Int J Pediatr Endocrinol 2018 16;2018. Epub 2018 Jan 16.

1Department of Internal Medicine, Section Endocrinology, VU University Medical Center and Amsterdam Neuroscience, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.

Background: In patients with Prader-Willi syndrome (PWS) body composition is abnormal and alterations in appetite regulating factors, bone mineral density and insulin-like growth factor-1 (IGF-1) levels have been described. Studies in PWS adults are limited. In this study, we investigated body composition, appetite regulating peptides, bone mineral density and markers of bone remodeling in an adult PWS population. Read More

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http://dx.doi.org/10.1186/s13633-018-0055-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771040PMC
January 2018
6 Reads

A medical calculator to determine testicular volumes matching ultrasound values from the width of the testis obtained in the scrotum with a centimeter ruler.

Int J Pediatr Endocrinol 2017 21;2017:14. Epub 2017 Nov 21.

Nationwide Children's Hospital, Section of Pediatric Endocrinology, 700 Children's Drive, Columbus, Ohio 43205 USA.

The determination of the testicular volume is of considerable importance to assess the onset, progression and disorders of puberty, abnormal testicular development, and a number of other conditions; and in adults, assessment of fertility. A number of clinical methods have been used for the measurement of testicular volumes in the scrotum: a centimeter ruler, sliding calipers, and orchidometers. All the clinical methods calculate the volumes by the ellipsoid equation, grossly overestimate ultrasound (US) volumes by 70 to 80% for adults, to 150 to 250% for prepubertal subjects, mainly because the inclusion of the scrotal skin and epididymis and may not be accurate of reproducible. Read More

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http://dx.doi.org/10.1186/s13633-017-0053-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698971PMC
November 2017
8 Reads

Insulinoma masquerading as a loss of consciousness in a teenage girl: case report and literature review.

Int J Pediatr Endocrinol 2017 17;2017:13. Epub 2017 Oct 17.

Division of Pediatric Endocrinology, Baystate Children's Hospital, 50 Wason Ave, Springfield, MA 01199 USA.

Background: Hypoglycemia due to a pancreatic beta cell neoplasm - insulinoma, is uncommon with only a few cases described. We report on a previously healthy 15-year-old Hispanic female with insulinoma who presented with a loss of consciousness due to hypoglycemia unawareness.

Case Presentation: EM was first brought to the emergency department (ED) after she was found unresponsive at home with point of care (POC) glucose of 29 mg/dL(1. Read More

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http://dx.doi.org/10.1186/s13633-017-0049-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645892PMC
October 2017
12 Reads

A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.

Int J Pediatr Endocrinol 2017 13;2017:12. Epub 2017 Oct 13.

Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH 43210 USA.

Background: We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS).

Case Presentation: Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism. Read More

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http://dx.doi.org/10.1186/s13633-017-0052-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640965PMC
October 2017
18 Reads

Congenital hypothyroidism: insights into pathogenesis and treatment.

Int J Pediatr Endocrinol 2017 2;2017:11. Epub 2017 Oct 2.

Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 USA.

Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks posed by mild congenital hypothyroidism, highlighting the need for additional research to further define what risks these patients face and whether they are likely to benefit from treatment. Read More

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http://dx.doi.org/10.1186/s13633-017-0051-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625825PMC
October 2017
8 Reads

Erratum to: Appraisal of testicular volumes: volumes matching ultrasound values referenced to stages of genital development.

Int J Pediatr Endocrinol 2017 29;2017:10. Epub 2017 Sep 29.

Section of Pediatric Endocrinology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205 USA.

[This corrects the article DOI: 10.1186/s13633-017-0046-x.]. Read More

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http://dx.doi.org/10.1186/s13633-017-0050-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622466PMC
September 2017
6 Reads

Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.

Int J Pediatr Endocrinol 2017 29;2017. Epub 2017 Aug 29.

Department of Paediatric Medicine Sidra Medical & Research Center, OPC, C6-337, PO Box 26999, Doha, Qatar.

Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5-5.5 mmol/L. Read More

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http://dx.doi.org/10.1186/s13633-017-0048-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575922PMC
August 2017
16 Reads

Novel compound heterozygous mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency.

Int J Pediatr Endocrinol 2017 4;2017. Epub 2017 Aug 4.

Institute in the Park, Alder Hey Children's NHS Foundation Trust, University of Liverpool, Eaton Road, Liverpool, UK.

Background: De novo truncating and splicing mutations in the additional sex combs-like 3 () gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features.

Case Presentation: We describe, for the first time, a patient with severe short stature, learning difficulties, feeding difficulties and dysmorphic features with a novel compound heterozygous mutation in .Additionally the patient also has primary insulin like growth factor-1 (IGF1) deficiency. Read More

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http://dx.doi.org/10.1186/s13633-017-0047-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544984PMC
August 2017
32 Reads

Appraisal of testicular volumes: volumes matching ultrasound values referenced to stages of genital development.

Int J Pediatr Endocrinol 2017 17;2017. Epub 2017 Jul 17.

Nationwide Children's Hospital, Section of Pediatric Endocrinology, 700 Children's Drive, Columbus, OH 43205 USA.

Background: Testicular volumes obtained with orchidometers or external linear measurements in the scrotum (centimeter ruler or calipers) grossly over-estimate ultrasound volumes, have much variability and may not be accurate or reproducible. The reference of the values obtained by orchidometers or US, to age or Tanner stages is not useful to determine the normal values for stages of puberty, because overlapping of ages and values. Pubertal development is determined by two events, genital and pubic hair development, that should be analyzed independently because one could be out of step with the other. Read More

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http://dx.doi.org/10.1186/s13633-017-0046-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513322PMC
July 2017
29 Reads

Clitoral size in term newborns in Kumasi, Ghana.

Int J Pediatr Endocrinol 2017 6;2017. Epub 2017 Jun 6.

Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.

Background: Data on normative clitoral sizes in newborns is relatively sparse and racial/ethnic differences have also been reported. This study was performed to establish norms for clitoral size in term Ghanaian female newborns.

Methods: This was a cross-sectional study of all apparently well full-term newborns of postnatal age < 48 h and birth weight between 2. Read More

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http://dx.doi.org/10.1186/s13633-017-0045-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461739PMC
June 2017
10 Reads

Change in BMI after radioactive iodine ablation for graves disease.

Int J Pediatr Endocrinol 2017 2;2017. Epub 2017 Jun 2.

Department of Pediatrics, Section of Pediatric Endocrinology, Riley Hospital for Children, Indiana University School of Medicine, 705 Riley Hospital Drive, Room # 5960, Indianapolis, IN 46202 USA.

Background: We aimed to determine the extent of post-treatment weight gain that occurs in pediatric patients in the first year following radioactive iodine (RAI) therapy for Graves disease (GD) and its relationship to clinical characteristics.

Methods: A retrospective chart review of patients receiving RAI therapy for GD between 1998-2015 was performed. Change in BMI SDS (∆BMI SDS) from baseline to one year after treatment was determined. Read More

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http://dx.doi.org/10.1186/s13633-017-0044-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455212PMC
June 2017
5 Reads

Erratum to: A randomized pilot trial of growth hormone with anastrozole versus growth hormone alone, starting at the very end of puberty in adolescents with idiopathic short stature.

Int J Pediatr Endocrinol 2017 27;2017. Epub 2017 Feb 27.

Department of Pediatric Endocrinology, Bicêtre Hospital, Pôle I3E, AP-HP, Paris Sud University, 94275 Le Kremlin Bicêtre, France.

[This corrects the article DOI: 10.1186/1687-9856-2015-4.]. Read More

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http://dx.doi.org/10.1186/s13633-017-0043-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5327564PMC
February 2017
15 Reads

Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study.

Int J Pediatr Endocrinol 2017 28;2017. Epub 2017 Jan 28.

First Department of Obstetrics and Gynaecology, University of Athens, Alexandra Hospital, Athens, Greece.

Background: Genital surgery in Disorders of Sex Development (DSD) has been an area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied the then routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence. Read More

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http://dx.doi.org/10.1186/s13633-016-0040-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5273823PMC
January 2017
10 Reads

Normative penile anthropometry in term newborns in Kumasi, Ghana: a cross-sectional prospective study.

Int J Pediatr Endocrinol 2017 26;2017. Epub 2017 Jan 26.

Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.

Background: Genital measurements are a useful adjunct in the early detection of various endocrine conditions including hypopituitarism and disorders of sexual differentiation. Standards for genital sizes have been published but racial/ethnic differences exist. This study was done to establish norms for genital sizes in term Ghanaian male newborns. Read More

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http://ijpeonline.biomedcentral.com/articles/10.1186/s13633-
Publisher Site
http://dx.doi.org/10.1186/s13633-017-0042-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270225PMC
January 2017
21 Reads

Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in gene.

Int J Pediatr Endocrinol 2017 25;2017. Epub 2017 Jan 25.

Department of Endocrinology, Princess Margaret Hospital, Perth, Australia.

Background: Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies. To aid clinicians in the investigation and management of children with hypoparathyroidism, we describe the phenotype of a 6-year-old child with hypoparathyroidism and short stature diagnosed with Kenny-Caffey syndrome (KCS) Type 2 and the subsequent response to growth hormone (GH) treatment.

Case Presentation: The proband presented in the neonatal period with hypocalcemic seizures secondary to hypoparathyroidism. Read More

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http://ijpeonline.biomedcentral.com/articles/10.1186/s13633-
Publisher Site
http://dx.doi.org/10.1186/s13633-016-0041-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264330PMC
January 2017
11 Reads

Rabson Mendenhall Syndrome caused by a novel missense mutation.

Int J Pediatr Endocrinol 2016 17;2016:21. Epub 2016 Nov 17.

Department of Paediatrics, University of Peradeniya, Peradeniya, Sri Lanka.

Background: Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. Read More

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http://dx.doi.org/10.1186/s13633-016-0039-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114824PMC
November 2016
7 Reads

Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis.

Int J Pediatr Endocrinol 2016 28;2016:20. Epub 2016 Oct 28.

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina ; Departamento de Biología Celular, Histología, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.

In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Read More

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http://dx.doi.org/10.1186/s13633-016-0038-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5084469PMC
October 2016
27 Reads

The influence of a long-term growth hormone treatment on lipid and glucose metabolism: a randomized trial in short Japanese children born small for gestational age.

Int J Pediatr Endocrinol 2016 26;2016:19. Epub 2016 Oct 26.

Department of Medical Subspecialties, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535 Japan.

Background: Long-term growth hormone (GH) treatments in short children born small for gestational age (SGA) restore lipid metabolism, but also increase insulin resistance. The aim of this study was to evaluate the influence of long-term GH therapy on lipid and glucose metabolism as well as its dose dependency in short Japanese children born SGA.

Methods: Eighty Japanese children with a short stature who were born SGA participated in this study; 65 were treated with fixed GH doses of 0. Read More

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http://dx.doi.org/10.1186/s13633-016-0036-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080766PMC
October 2016
14 Reads

Case report: recurrent abdominal symptoms in a child with panhypopituitarism - there is always a differential.

Int J Pediatr Endocrinol 2016 10;2016:18. Epub 2016 Oct 10.

Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, Germany.

Background: We report the case of a 6 year old boy suffering from adenohypophysis aplasia as well as ectopic neurohypophysis and delayed diagnosis of familial Mediterranean fever (FMF).

Case Presentation: The boy was diagnosed with panhypopituitarism during the neonatal period and suffered from recurrent episodes during the following years suggesting infections. He also showed signs of adrenal insufficiency. Read More

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http://dx.doi.org/10.1186/s13633-016-0037-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057440PMC
October 2016
11 Reads

Differential effects of hydrocortisone, prednisone, and dexamethasone on hormonal and pharmacokinetic profiles: a pilot study in children with congenital adrenal hyperplasia.

Int J Pediatr Endocrinol 2016 26;2016:17. Epub 2016 Sep 26.

Department of Pediatrics, Division of Pediatric Endocrinology/Diabetology, Indiana University School of Medicine, 705 Riley Hospital Drive, Room 5960, Indianapolis, IN 46202 USA.

Background: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics.

Methods: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI). Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036261PMC
http://dx.doi.org/10.1186/s13633-016-0035-5DOI Listing
October 2016
11 Reads

Delayed methimazole-induced agranulocytosis in a 6-year old patient with Graves' disease.

Int J Pediatr Endocrinol 2016 6;2016(1):16. Epub 2016 Sep 6.

Department of Pediatrics, Rutgers-Robert Wood Johnson Medical School, 89 French Street, New Brunswick, NJ 08901 USA.

Background: Agranulocytosis is regarded as a rare side effect of methimazole (MMI) therapy that occurs in a dose dependent manner and that usually develops within the first 3-6 months of treatment. Although delayed development beyond this timeline has been documented in adults, very few children have been reported with this presentation.

Case Presentation: We present a 6-year old patient who developed agranulocytosis 18 months after the start of MMI therapy. Read More

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http://dx.doi.org/10.1186/s13633-016-0034-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5013617PMC
September 2016
5 Reads

Body mass index in girls with idiopathic central precocious puberty during and after treatment with GnRH analogues.

Int J Pediatr Endocrinol 2016 5;2016:15. Epub 2016 Aug 5.

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires, Argentina.

Background: In girls with Idiopathic Central Precocious Puberty (ICPP) concern has been raised by the potential impact of GnRH-analogues (GnRHa) treatment on body weight. We evaluated the effect of GnRHa on Body Mass Index (BMI) in girls with ICPP according to weight status at diagnosis.

Methods: One hundred seventeen ICPP girls were divided according to pretreatment weight status in: normal weight (NW), overweight (OW) and obese (OB). Read More

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http://dx.doi.org/10.1186/s13633-016-0033-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974749PMC
August 2016
13 Reads

Vague neuroglycopenic complaints camouflage diagnosis of adolescent insulinoma: a case report.

Int J Pediatr Endocrinol 2016 29;2016:14. Epub 2016 Jul 29.

Division of Endocrinology and Diabetes, Children's Mercy Hospital, 2401 Gillham Rd, Kansas City, MO 64108 USA.

Background: Insulinoma is a rare diagnosis in the general population with estimates of 1 in 250,000 people per year. Reports of these pancreatic islet cell tumors are even more unusual in children and adolescents. Chronic hypoglycemia due to an insulinoma often presents with neuroglycopenic symptoms that can easily be overlooked, especially in adolescents where nonspecific complaints are common. Read More

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http://dx.doi.org/10.1186/s13633-016-0032-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967349PMC
August 2016
4 Reads

Growth and descent of the testes in infants with hypogonadotropic hypogonadism receiving subcutaneous gonadotropin infusion.

Int J Pediatr Endocrinol 2016 4;2016:13. Epub 2016 Jul 4.

Department of Pediatric Endocrinology, Pôle I3E, Hôpital Bicêtre, Assistance Publique des Hôpitaux de Paris, Paris Sud University, Le Kremlin-Bicetre, France.

Background: One third of infants with congenital hypogonadotropic hypogonadism (CHH) are said to have micropenis and/or bilateral or unilateral cryptorchidism leading many of them to orchiopexy. Our previous study in two patients suggests that prolonged subcutaneous infusion of large doses of gonadotropins might normalize testicular function and growth.

Case Presentation: To confirm the effects of early and prolonged subcutaneous infusion of large doses of gonadotropins on growth and descent of the testes. Read More

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http://dx.doi.org/10.1186/s13633-016-0031-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931699PMC
July 2016
4 Reads

46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.

Int J Pediatr Endocrinol 2016 15;2016:12. Epub 2016 Jun 15.

Division of Endocrinology, Department of Pediatrics, University of Alberta, Edmonton Clinic Health Academy, 11405- 87th Ave., Edmonton, AB T6G 1C9 Canada.

Background: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione < 0.8. Read More

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http://dx.doi.org/10.1186/s13633-016-0030-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908721PMC
June 2016
15 Reads

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.

Int J Pediatr Endocrinol 2016 2;2016:11. Epub 2016 Jun 2.

Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia ; Paediatric and Child Health Research Group, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia.

Background: 47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature.

Case Presentation: We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. Read More

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http://dx.doi.org/10.1186/s13633-016-0029-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4890323PMC
June 2016
20 Reads

Positive fertility outcomes in a female with classic congenital adrenal hyperplasia following bilateral adrenalectomy.

Int J Pediatr Endocrinol 2016 20;2016:10. Epub 2016 May 20.

National Institutes of Health, Clinical Center, 10 Center Drive Building 10, Rm 1-2740, Bethesda, 20892-1932 MD USA ; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD USA.

Background: Classic congenital adrenal hyperplasia (CAH) requires lifetime steroid replacement and supraphysiologic glucocorticoid dose is often required for adequate adrenal androgen suppression. Patients often suffer from long-term co-morbidities and female infertility is common.

Case Presentation: We report the use of laparoscopic bilateral adrenalectomy as a treatment for a 21 year old female with classic simple virilizing CAH and infertility. Read More

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http://dx.doi.org/10.1186/s13633-016-0028-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873998PMC
May 2016
22 Reads

Do 6-8 year old girls with central precocious puberty need routine brain imaging?

Authors:
Paul B Kaplowitz

Int J Pediatr Endocrinol 2016 4;2016. Epub 2016 May 4.

Division of Endocrinology, Children's National Health System, Washington, DC USA.

Background: The subject of whether all girls with central precocious puberty (CPP) require brain imaging is controversial.

Findings: A review of the major papers concerning this topic published since 1994 was conducted looking primarily at the frequency of occult intracranial lesions, particularly brain tumors, in girls with CPP. While CNS abnormalities are frequently noted (8-15 %), the proportion of previously unknown findings requiring intervention in 6-8 year old girls is very small, in the range of 0-2 %. Read More

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http://dx.doi.org/10.1186/s13633-016-0027-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855709PMC
May 2016
7 Reads

Influences of gender on cardiovascular disease risk factors in adolescents with and without type 1 diabetes.

Int J Pediatr Endocrinol 2016 19;2016. Epub 2016 Apr 19.

Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, 1775 Aurora Court, Mail Stop A140, Aurora, CO 80045 USA.

Background: Women with type 1 diabetes (T1D) have a four-fold increased risk for cardiovascular disease (CVD) compared to non-diabetic (non-DM) women, as opposed to double the risk in T1D men compared to non-DM men. It is unclear how early in life CVD risk differences begin in T1D females. Therefore, our objective was to compare CVD risk factors in adolescents with and without T1D to determine the effects of gender on CVD risk factors. Read More

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http://dx.doi.org/10.1186/s13633-016-0026-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4837565PMC
April 2016
13 Reads

An audit of the management of childhood-onset growth hormone deficiency during young adulthood in Scotland.

Int J Pediatr Endocrinol 2016 16;2016. Epub 2016 Mar 16.

Developmental Endocrinology Research Group, Royal Hospital for Children, School of Medicine, University of Glasgow, 1345 Govan Road, Glasgow, G51 4TF UK.

Background: Adolescents with childhood onset growth hormone deficiency (CO-GHD) require re-evaluation of their growth hormone (GH) axis on attainment of final height to determine eligibility for adult GH therapy (rhGH).

Aim: Retrospective multicentre review of management of young adults with CO-GHD in four paediatric centres in Scotland during transition.

Patients: Medical records of 130 eligible CO-GHD adolescents (78 males), who attained final height between 2005 and 2013 were reviewed. Read More

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http://dx.doi.org/10.1186/s13633-016-0024-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793498PMC
March 2016
16 Reads

Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with optic nerve hypoplasia and growth hormone deficiency.

Int J Pediatr Endocrinol 2016 2;2016. Epub 2016 Mar 2.

The Vision Center, Children's Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027 USA ; The Saban Research Institute, Children's Hospital Los Angeles, 4661 Sunset Boulevard, Los Angeles, CA 90027 USA.

Background: Hypopituitarism and obesity are causes of major lifelong morbidity in patients with optic nerve hypoplasia (ONH). Growth hormone deficiency (GHD) affects the majority of children with ONH, though the degree of deficiency and variability of early growth patterns range from early severe retardation to normal initial growth. The utility of early GH replacement for improving anthropometric, body composition, and lipid outcomes in patients with ONH and GHD, especially those with normal initial height velocity, is unknown. Read More

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http://dx.doi.org/10.1186/s13633-016-0023-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774157PMC
March 2016
30 Reads

Increasing incidence of premature thelarche in the Central Region of Denmark - Challenges in differentiating girls less than 7 years of age with premature thelarche from girls with precocious puberty in real-life practice.

Int J Pediatr Endocrinol 2016 22;2016. Epub 2016 Feb 22.

Department of Pediatrics, Aarhus University Hospital, Skejby, Palle Juul Jensens Boulevard 99, DK-8200 Aarhus N, Denmark.

Background: Premature thelarche (PT) seems to be increasing and it is difficult to differentiate its early stages from precocious puberty (PP). Clinical and biochemical parameters are warranted to differentiate the two diagnoses.

Methods: One hundred ninety-one girls aged 0. Read More

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http://dx.doi.org/10.1186/s13633-016-0022-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763410PMC
February 2016
12 Reads

Etiological and clinical characteristics of central diabetes insipidus in children: a single center experience.

Int J Pediatr Endocrinol 2016 11;2016. Epub 2016 Feb 11.

Division of Pediatric Endocrinology, University of North Carolina at Chapel Hill, Campus Box #7039, Medical School Wing E, Chapel Hill, NC 27599 USA.

Background: Central diabetes insipidus (CDI) results from a number of conditions affecting the hypothalamic-neurohypophyseal system to cause vasopressin deficiency. Diagnosis of CDI is challenging, and clinical data and guidelines for management are lacking. We aim to characterize clinical and radiological characteristics of a cohort of pediatric patients with CDI. Read More

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http://dx.doi.org/10.1186/s13633-016-0021-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750251PMC
February 2016
14 Reads

Type 1 diabetes through two lenses: comparing adolescent and parental perspectives with photovoice.

Int J Pediatr Endocrinol 2016 20;2016. Epub 2016 Jan 20.

The Department of Pediatrics, University of Florida, PO Box 100296, Gainesville, FL 32610-0296 USA.

Background: Parental support and care-coordination are vital for youth with type 1 diabetes (T1D) in achieving positive health outcomes. Yet, studies are rarely designed to identify factors that influence parent/youth collaboration or how their perspectives about diabetes may vary.

Methods: Photovoice was used to explore how adolescent and parental perspectives on T1D compare to identify factors that may influence care collaboration. Read More

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http://dx.doi.org/10.1186/s13633-016-0020-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719694PMC
January 2016
8 Reads

Pediatric thyroid surgery and management of thyroid nodules - an institutional experience over a 10-year period.

Int J Pediatr Endocrinol 2016 13;2016. Epub 2016 Jan 13.

Rady Children's Hospital in San Diego, San Diego, CA USA ; Department of Pediatrics - Division of Endocrinology, University of California San Diego, San Diego, CA USA.

Background: We reviewed our institutional experience in the diagnosis and management of pediatric thyroid nodules and well-differentiated thyroid carcinoma (WDTC), highlighting the unique challenges in this population.

Methods: IRB approved retrospective chart review was conducted on patients who underwent fine needle aspiration (FNA) or thyroid surgery from 1/1/2001 to 12/31/2010 at Rady Children's Hospital San Diego, a tertiary referral center in Southern California. Patients thus identified who completed their initial treatment at our institution were included. Read More

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http://dx.doi.org/10.1186/s13633-015-0019-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4712522PMC
January 2016
18 Reads

Peak cortisol response to corticotropin-releasing hormone is associated with age and body size in children referred for clinical testing: a retrospective review.

Int J Pediatr Endocrinol 2015 22;2015:22. Epub 2015 Oct 22.

Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Suite 11NW, Philadelphia, USA.

Background: Corticotropin-Releasing Hormone (CRH) testing is used to evaluate suspected adrenocorticotropic hormone (ACTH) deficiency, but the clinical characteristics that affect response in young children are incompletely understood. Our objective was to determine the effect of age and body size on cortisol response to CRH in children at risk for ACTH deficiency referred for clinical testing.

Methods: Retrospective, observational study of 297 children, ages 30 days - 18 years, undergoing initial, clinically indicated outpatient CRH stimulation testing at a tertiary referral center. Read More

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http://dx.doi.org/10.1186/s13633-015-0018-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618529PMC
October 2015
8 Reads

Psychosexual development and quality of life outcomes in females with congenital adrenal hyperplasia.

Int J Pediatr Endocrinol 2015 15;2015:21. Epub 2015 Oct 15.

Department of Pediatrics, Penn State College of Medicine, 500 University Drive, Hershey, PA 17033-0850 USA.

Background/aims: Outcome information regarding females with classical congenital adrenal hyperplasia (CAH) have generally suggested poor quality of life (QoL), general maladjustment, problems regarding sexuality, and decreased fertility. The aim of this study was to assess QoL, psychosocial adaptation, and psychosexual characteristics, includingchildhood gender role behavior, gender identity, and sexual orientation in females with CAH.

Methods: Female patients with 21-hydroxylase deficiency CAH were evaluated using a questionnaire with items relating to knowledge of their condition and its therapy; consistency of medical, surgical, and psychological care; childhood friends and play behavior; and genital, pubertal, and sexual development. Read More

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http://dx.doi.org/10.1186/s13633-015-0017-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607144PMC
October 2015
3 Reads

Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging.

Int J Pediatr Endocrinol 2015 15;2015(1):20. Epub 2015 Sep 15.

Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, 2-13-22 Miyakojima-hondori, Miyakojima, Osaka 534-0021 Japan ; Clinical Research Center, Osaka City General Hospital, Osaka, Japan.

The focal form of congenital hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin-oversecreting β cells within a restricted area of the pancreas. Although identification of the focal lesion is very important in the management of CHI, it has been reported that imaging studies, including computed tomography (CT), magnetic resonance imaging (MRI) scans, or angiography, are not helpful in identifying the focal lesion. Currently, fluorine-18-L-dihydroxyphenylalanine positron emission tomography ((18)F-DOPA PET) is believed to be the only imaging modality that can identify the focal lesions. Read More

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http://dx.doi.org/10.1186/s13633-015-0016-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570655PMC
September 2015
12 Reads

Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program.

Int J Pediatr Endocrinol 2015 8;2015(1):17. Epub 2015 Sep 8.

Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.

Background: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS) or the American Norditropin Studies: Web-Enabled Research (ANSWER) Program, which collect information on GH therapy in clinical practice.

Methods: Repeated-measures regression analysis was performed on change in height standard deviation score (HSDS) and target-height-corrected HSDS, based on national normal references and treatment-naïve disease-specific references. Read More

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http://dx.doi.org/10.1186/s13633-015-0015-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562101PMC
September 2015
9 Reads

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome.

Int J Pediatr Endocrinol 2015 26;2015(1):19. Epub 2015 Aug 26.

The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Houston, TX USA.

Context: Cushing Syndrome is difficult to diagnose, and the comorbidities and persistent late effects of hypercortisolemia after treatment of the primary disease are challenging for the patient and the endocrinologist.

Objective: To report the case of a girl with obesity and hypertension, ultimately diagnosed with Cushing syndrome due to primary pigmented nodular adrenocortical disease. In this case, the complications of hypercortisolism persisted short term despite surgical intervention. Read More

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http://dx.doi.org/10.1186/s13633-015-0014-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551381PMC
August 2015
10 Reads

Effect of oxandrolone therapy on adult height in Turner syndrome patients treated with growth hormone: a meta-analysis.

Int J Pediatr Endocrinol 2015 26;2015(1):18. Epub 2015 Aug 26.

Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave MLC 7012, Cincinnati, OH 45229 USA ; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH USA.

Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turner Syndrome and the standard treatment is recombinant human growth hormone. Read More

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http://dx.doi.org/10.1186/s13633-015-0013-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551522PMC
August 2015
6 Reads

A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.

Int J Pediatr Endocrinol 2015 15;2015(1):16. Epub 2015 Jul 15.

Cincinnati Children's Hospital Medical Center, Division of Endocrinology, 3333 Burnet Ave, MLC 7012, Cincinnati, OH 45229 USA.

Background: Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can be difficult and genetic testing may be warranted.

Case: This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Read More

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http://dx.doi.org/10.1186/s13633-015-0012-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502541PMC
July 2015
23 Reads