Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence
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 et... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - August 6, 2018 Category: Endocrinology Authors: Yasmin Akhtar, Angela Verardo and Janet L. Crane Tags: Case report Source Type: research

Real-world efficacy and safety of insulin degludec with mealtime rapid-acting insulin in type 1 diabetes in Indian pediatric population
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 Ind... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - July 27, 2018 Category: Endocrinology Authors: Inderpal Singh Kochar and Aashish Sethi Tags: Research Source Type: research

Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants
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 hy... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - July 17, 2018 Category: Endocrinology Authors: Lina Huerta-Saenz, Carol Saunders and Yun Yan Tags: Case report Source Type: research

Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study
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 statur... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - June 26, 2018 Category: Endocrinology Authors: Louise Apperley, Urmi Das, Renuka Ramakrishnan, Poonam Dharmaraj, Jo Blair, Mohammed Didi and Senthil Senniappan Tags: Research Source Type: research

Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience
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 patient... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - March 27, 2018 Category: Endocrinology Authors: Hussain Alsaffar, Lucy Turner, Zoe Yung, Mohammed Didi and Senthil Senniappan Tags: Research Source Type: research

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report
Desert hedgehog (DHH) 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 tumo... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - March 2, 2018 Category: Endocrinology Authors: Karen M. Rothacker, Katie L. Ayers, Dave Tang, Kiranjit Joshi, Jocelyn A. van den Bergen, Gorjana Robevska, Naeem Samnakay, Lakshmi Nagarajan, Kate Francis, Andrew H. Sinclair and Catherine S. Choong Tags: Case report Source Type: research

Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome
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 describe... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - January 16, 2018 Category: Endocrinology Authors: I. Caroline van Nieuwpoort, Jos W. R. Twisk, Leopold M. G. Curfs, Paul Lips and Madeleine L. Drent Tags: Research Source Type: research

Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE)
(Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - December 28, 2017 Category: Endocrinology Tags: Meeting abstracts Source Type: research

A medical calculator to determine testicular volumes matching ultrasound values from the width of the testis obtained in the scrotum with a centimeter ruler
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 adu... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - November 21, 2017 Category: Endocrinology Authors: Juan F. Sotos and Naomi J. Tokar Tags: Letter to the Editor Source Type: research

Insulinoma masquerading as a loss of consciousness in a teenage girl: case report and literature review
We report on a previously healthy 15-year-old Hispanic female with insulinoma who presented with a... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - October 17, 2017 Category: Endocrinology Authors: Meghana Gudala, Mahmuda Ahmed, Rushika Conroy and Ksenia Tonyushkina Tags: Case report Source Type: research

A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia
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). (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - October 13, 2017 Category: Endocrinology Authors: Juan Sotos, Katherine Miller, Donald Corsmeier, Naomi Tokar, Benjamin Kelly, Vijay Nadella, Huachun Zhong, Amy Wetzel, Brent Adler, Chack-Yung Yu and Peter White Tags: Case report Source Type: research

Congenital hypothyroidism: insights into pathogenesis and treatment
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 eradica... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - October 2, 2017 Category: Endocrinology Authors: Christine E. Cherella and Ari J. Wassner Tags: Review Source Type: research

Erratum to: Appraisal of testicular volumes: volumes matching ultrasound values referenced to stages of genital development
(Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - September 29, 2017 Category: Endocrinology Authors: Juan F. Sotos and Naomi J. Tokar Tags: Erratum Source Type: research

Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology
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. Insulin, the only gl... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - August 29, 2017 Category: Endocrinology Authors: Huseyin Demirbilek, Sofia A. Rahman, Gonul Gulal Buyukyilmaz and Khalid Hussain Tags: Review Source Type: research

Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency
De novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, ... (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - August 4, 2017 Category: Endocrinology Authors: Dinesh Giri, Daniel Rigden, Mohammed Didi, Matthew Peak, Paul McNamara and Senthil Senniappan Tags: Case report Source Type: research