ESPE Abstracts

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is а rare multisystem disorder due to mutations in the autoimmune regulator gene (AIRE). APS-1 usually is characterized by a triad of hypoparathyroidism, primary adrenal insufficiency (PAI) and chronic mucocutaneous candidiasis. In the absence of the classic triad, the diagnosis becomes obscure and is often delayed.Case presentation: We report a 12 years ol...

Introduction: Fenton (2013) defined small for gestational age children (SGA) as born with birth length and/or weight < 10th percentile for the corresponding gestational age, and clinicians use it ever since. According to the literature, 1 of 10 children born SGA does not catch-up in growth. Wit (2021) suggested to address them as short SGA children. Recombinant human growth hormone (rhGH) treatment in those children have been approved by the FDA in 2001 and...

Introduction: Children born small for gestational age (SGA) are extensively studied since the 60s of the last century. Short-term and long term sequels of the condition lead to the concept of necessary follow up throughout childhood and early adulthood. Based on the current knowledge, SGA births are between 5% and 7% of all, with about 10% failing to catch-up up to 2 years of age. The timely capture of such individuals within general practices and even within ...

Background: The rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) is a long-known rare condition with a high morbidity and mortality rate, and still unknown etiology.Objective: We aim to present the clinical findings and treatment in a patient with ROHHAD syndrome.Case presentation: A 4-year-old girl had normal development until March 2022 whe...