hrp0082np2.1 | Regenerative Endocrinology | ESPE2014

Regenerative Medicine for β Cell Replacement

Scharfmann R

Pancreatic β cells develop from endodermal pancreatic progenitors that first proliferate and next differentiate into functional insulin-producing cells. This developmental process is complex, each step being controlled by yet unknown signals. Theoretically, the development of a functional β cell mass can be enhanced by: i) activating the proliferation of pancreatic progenitors; ii) activating their differentiation into β cells; iii) activating the proliferation ...

hrp0097p1-384 | Thyroid | ESPE2023

A novel X-linked variant [c.1772delG (p.G591fs*20)] in IRS4 in a patient with central hypothyroidism

Koprulu Ozge , Tozkır Hilmi

Central hypothyroidism (CeH) is characterized by thyroid hormone deficiency due to impairment of pituitary TSH or hypothalamic TRH biosynthesis. CeH is often seen as a part of multiple pituitary hormone deficiencies, but it can also be seen as isolated. Diagnosis may be challenging. To date, some variants that can cause isolated CeH have been identified; although in a number of patients the cause has not been clarified. Recently, variants of the insulin receptor substrate 4 (<...

hrp0082p3-d1-623 | Adrenals &amp; HP Axis | ESPE2014

Pseudohypoaldosteronism Type 1: Role of Urinary Steroid Profiling in Specific and Early Diagnosis: Lessons in Differential Diagnosis of PHA1 vs PHA2 (Renal Tract Anomaly)

Abbot V , Ghataore L , Pieterse D J , Chapman S , Kapoor R R , Taylor N F , Buchanan C R

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

hrp0095p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic.

Solanas Martín Blanca , R. Howard Sasha , R. Hughes Claire , L. Storr Helen , H. Willemsen Ruben

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

hrp0095p1-191 | Thyroid | ESPE2022

Hyperthyroidism leading to Idiopathic Intracranial Hypertension in a Child – A Case Report

Agrawal Pankaj , R Kapoor Ritika , A Chapman Simon , Wei Christina , R Buchanan Charles , Bhushan Arya Ved

Introduction: Idiopathic intracranial hypertension (IIH) is a rare neurological condition characterized by raised intracranial pressure (ICP) in the absence of hydrocephalus, brain parenchymal lesion, vascular malformation, or central nervous system (CNS) infection. Hyperthyroidism is a rare but known cause of raised ICP in children and adults, with only a few case reports in the paediatric population. We describe a 7-year-old boy with IIH associated with hype...

hrp0094p2-101 | Diabetes and insulin | ESPE2021

Disturbances of glucose homeostasis in polytransfused beta-thalassemia patients

Mustapha Noumi , N Khelafi , Y Ferhani , S Sokhal , R Terrak , R Boukari ,

Introduction: β-thalassemia is a hereditary chronic hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East (1) Transfusion programs and chelating therapy have greatly extended the life expectancy of patients (2). This has led to an increase in the prevalence of endocrine complications, linked to iron overload (3) including abnormalities in gluco...

hrp0097p1-395 | Thyroid | ESPE2023

Thyroid Storm with Diabetes Insipidus: Management of A Rare Endocrine Presentation In A Child

Agrawal Pankaj , R Kapoor Ritika , R Buchanan Charles , Bhushan Arya Ved

Introduction: Thyroid storm is an acute, life-threatening, emergency in children with thyrotoxicosis. It is extremely rare and could be an initial presentation in previously undiagnosed children. Thyroid storm with diabetes insipidus (DI) has been reported in adults, but no cases have been reported in children. We herein report a child with thyroid storm with transient central DI.Case Report: A 7-year-old girl, presented...

hrp0089p2-p077 | Diabetes &amp; Insulin P2 | ESPE2018

Clinical and Genetic Characterizations of Maturity Onset Diabetes of the Young: Single Center Results

Guven Ayla , Yıldırımoglu Canan

Background: Maturity onset diabetes of the young (MODY) is a group of monogenic disorders classically presenting in adolescence or young adults before the age of 25 years. MODY is a rare cause of diabetes.Methods: In this study, a panel of 23 MODY genes was screened. The Human Gene Mutation Database (HGMD), Clinvar, dbSNP and Exac database used for known or new variants causes MODY. Classification of variants performed according to ACMG 2015 Guidelines. ...