Endocrine Abstracts

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, together with cardiac conduction defects, muscle abnormalities and endocrinopathies such as growth hormone deficiency (GHD), diabetes and hypoparathyroidism.We present a 2 years 9 months-old boy with clinical and biochemical diagnosis of KSS and GHD. He was referred with failure-to-thrive. He was born at term from healthy...

Introduction: In children with congenital adrenal hyperplasia (CAH), central precocious puberty (CPP) may occur and this situation may compromise final height. We aimed to evaluate the effect of GnRH analog therapy (GnRHa-T) on growth in children with CAH.Design: Ten children with CAH were included in ongoing follow-up study. Nine children underwent GnRH stimulation test. GnRHa-T was used as 3.75 mg/q 4 weeks and the dose had to be increased to 7.5 mg/q ...

NAFLD has become the most common cause of chronic liver disease in obese children.Two years-one month-old boy admitted to clinic for obesity. Parents were first cousin. Weight was 20 kg (>90p), height was 84 cm (50 p), BMI was 28.34 kg/m2 (>97 p). Physical examination was normal except diffuse hypertrichosis and right kriptoorchidism. On the follow-up, he never lost weight. At 4-years-old, FPG was 112 mg/dl, AST was 67 IU, ALT was 72 I...

Background: Adrenal insufficiency (AI) results from deficient production/action of glucocorticoids (GCs), with or without deficiency of mineralocorticoids (MC) and adrenal androgens. GC treatment is essential but some patient needs MC therapy to allow sodium(Na+) retention, potassium(K+) excretion and to maintain normal plasma volume and blood pressure. Much attention has focused on optimization of GC replacement but no consensus exists for optimization o...

Background: Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity.<p class="abstext"...

Background: Congenital Adrenal Hyperplasia (CAH) requires exogenous steroid replacement and can be monitored with 17-OH Progesterone and Androstenedione. We reviewed real world data to evaluate these markers in relation to hydrocortisone dose in patients treated in 21 centres throughout 14 countries.Method: Retrospective cohort study using pseudonymised data from patients with 21α-Hydroxylase Deficiency recorded in the International Congenital Adren...

Background: Testicular Adrenal Rest Tumors (TART) in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) are benign lesions causing testicular damage and infertility. We hypothesize that high ACTH exposure due to poor hormonal control during early life is promoting development of TART later in life.Objective: This study aims to examine the relation between early CAH diagnosis and cons...

Introduction: There is no unified approach in clinical practice regarding the medical management of congenital adrenal hyperplasia (CAH), despite existent international guidance. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of patients with CAH.Methods: We collected data recorded by 33 centres from 16 countries in the I-CAH Registry. We analysed patient visits between 1982 and 2018,...

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compared t...

Background: The reported occurrence and management of acute adrenal insufficiency–related adverse events in children vary widely between centres and may depend on available resources.Methods: Real world data from the I-CAH Registry from 44 centres [32 from high income (HIC) and 12 from low/middle income (LMIC) countries] and a total number of 607 children were linked to the results of a health care survey of local r...