Endocrine Abstracts

Aim: To quantify difference in service provision for children and young people (CYP) living with CAH across the UK.Methods: A national service evaluation using online questionnaires circulated to patients and clinicians from secondary and tertiary UK centres managing CYP with CAH, and via the ‘Living with CAH’ support group mailing list.Results: Total of 195 responses rel...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that arise from enzyme deficiencies in biosynthetic pathways of the adrenal. The most common enzyme deficiency, 21-hydroxylase deficiency, results in cortisol deficiency, androgen excess and variable aldosterone deficiency. Current guidelines recommend a standard dose short Synacthen test (SDSST) is performed between 24 and 48 hours of life, with measurement of corti...

Background: Effective management of adrenal insufficiency (AI) during sick day episodes involves adjusting oral glucocorticoid therapy or administering intramuscular injections to prevent adrenal crises. Therefore, educating families of young individuals with AI on emergency management is crucial.Aim: This study aims to critically evaluate online educational materials related to adrenal crisis management. We conducted a ...

Background: The short synacthen test (SST) is commonly used to evaluate the integrity of the hypothalamic–pituitary–adrenal (HPA) axis in children. However, this test is time-consuming, requiring cannulation, several blood samples, and medical observation. Studies in adults have suggested an early morning serum cortisol level could be used to rule out or confirm adrenal insufficiency, reducing reliance on SSTs, however, few studies have evaluated thi...

Background: Aromatase inhibitors block the aromatization of androgens to oestrogen. They are used off-label to delay bone maturation where bone age (BA) is advanced secondary to androgen excess. Side effects include hair loss, headache, decreased appetite, bone pain, drowsiness, and osteoporosis. There is limited data on Anastrozole’s safety in paediatrics. We report our experience (Anastrozole 1 mg OD) in 4 pre-pubertal boys with advanced BA.<p class...

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 that included a total of 2478 patient years follow-up on 607 children from 44 centres were studied and their association to the results of a health care survey of these centres that enqui...

Background: 17 α-hydroxylase enzyme deficiency is a rare condition and is responsible for < 1% of cases of congenital adrenal hyperplasia (CAH). Females present with delayed puberty due to reduced production of sex steroids and males can present with female external genitalia or with various degrees of genital ambiguity.Case presentation: A 4.5-year-old female – previously fit and well – presented to E...

Introduction: Addison’s disease (AD) is a rare endocrine disorder in children, characterized by insufficient production of cortisol and aldosterone due to adrenal gland dysfunction. While electrolyte imbalances, including hyponatremia, hyperkalaemia, can occur in AD, severe hyponatremia is an unusual and challenging complication in children. We present a case of severe hyponatremia in a teenager diagnosed with AD.Case report...