ESPE Abstracts

Background: “SHORT syndrome” is a rare condition and mnemonic for Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay. The features most consistently observed in SHORT syndrome are mild intrauterine growth restriction; mild to moderate short stature; partial lipodystrophy; and a characteristic facial gestalt (small chin, triangular shaped face, prominent forehand, abnormal positioning large ears and thin wrinkled...

Background: Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, anterior pituitary hypoplasia and an interrupted pituitary stalk. In some cases, a variety of additional congenital defects may be present. A genetic cause is identified in only around 5% of all cases.Case presentation: A 13-year-old male presented to the pediatric endocrinology clinic because o...

Introduction and Purpose: Congenital Adrenal Hyperplasia (CAH) encompasses a group of genetic disorders arising from enzyme deficiencies crucial for the biosynthesis of cortisol and mineralocorticoids, resulting in decreased cortisol and increased androgen production. Standard treatment involves oral hydrocortisone administration 2-3 times daily. However, this treatment often fails to mimic the circadian rhythm and effectively suppress androgen production, esp...

Introduction and Purpose: STAT3 gain-of-function (GOF) syndrome is a rare monogenic autosomal dominant disease, caused by activating mutations in the STAT3 gene encoding the STAT3 protein, which is involved in the signal transduction pathway. Disruption of STAT3 structure leads to an early-onset multi-organ disease, characterized by lymphoproliferation, autoimmune cytopenias and growth retardation. Treatment includes immunosuppression, immunotherapy and alloge...

Introduction and Purpose: Differentiated thyroid cancer in children is rare. However, its incidence has increased recently. It differs from adult thyroid cancer in terms of clinical, molecular and pathologic features. Pediatric patients present with advanced disease at the time of diagnosis. They have an excellent prognosis and a 5-year survival rate that reaches 100%. The aim of this study was to record and statistically analyze data from children diagnosed w...

Introduction: ROHHAD syndrome (Rapid-onset Obesity with Hypoventilation, hypothalamic and autonomic dysregulation) is a rare and complex disease with potential fatal outcome. To this day there have been 158 cases reported in the literature while whole exome sequencing has not yet revealed any responsible genes. It usually presents at the age of 2-4 years and the diagnosis is based on the following criteria: 1) rapidly progressive obesity that develops at the a...