Endocrine Abstracts

Deficiencies in the early stages of steroid production often lead to the development of female external genitalia in individuals with both 46XX and 46XY chromosomal patterns. Consequently, they are frequently overlooked when diagnosing primary adrenal insufficiency in cases where male external genitalia are present. Here, we present the case of a 4-year-old boy born from a third-degree consanguineous marriage, exhibiting normal male external genitalia, who displayed hyperpigme...

Introduction: Glucocorticoids can cause adrenal insufficiency through suppression of the hypothalamic-pituitary adrenal axis. Consensus on optimal glucocorticoid weaning or timing for dynamic function testing is lackingObjective: To investigate factors affecting short synacthen test (SST) response following high-dose corticosteroid therapy in children.Methods: This retrospective cohort study reviewed 17 patients referred to Evelina...

Background: X-linked Adrenoleukodystrophy, is a rare genetic neurodegenerative disease with an overall incidence of 1:20,000 males1. The disease is characterised by progressive demyelination in the central and peripheral nervous system and adrenal insufficiency as a consequence of the accumulation of very long chain fatty acids [VLCFA] in the myelin of the central nervous system and the adrenal cortex. There is no known genotypic-phenotypic correlation, and the degr...

Background: Adrenal Insufficiency (AI) is associated with higher-than-expected mortality in children and young people (CYP) due to the risk of adrenal crisis. The risk is minimised by effective home management, supplemented by infrequent hospital-based clinical reviews. As CYP spend most time in home and school, it is important to optimise home management to improve long-term AI outcomes.Methods: A quality improvement study was undertaken in the Manchest...

An 11-year-old boy was diagnosed with adrenal insufficiency during the latter period of the COVID19 pandemic, following three presentations over several years with presumed sepsis requiring IV antibiotics and IV fluid. A cortisol level checked on his third presentation was <2 mmol/l and ACTH >1250 ng/l indicative of ACTH resistance. Adrenal autoantibodies and very long-chain fatty acids were negative. Genetic testing detected a homozygous pathogenic sequence variant in...

Introduction: Patients with congenital adrenal hyperplasia (CAH) have increased prevalence of obesity and metabolic problems, however, their mechanisms are not clearly known. We aimed to understand the roles of adiponectin and leptin in the development of metabolic problems in CAH.Methods: In a national multicentre cohort of 102 patients with 21-hydroxylase deficiency (54 females, age 13.0&pm;2.92 years) and 83 sex- and age-matched controls, we analysed ...

Background: There are multiple indications for evaluation of the Hypothalamic-pituitary-adrenal (HPA) axis in neonates e.g. hypoglycaemia, hypotension, conjugated hyperbilirubinemia; however permanent neonatal adrenal insufficiency (AI) is rare. Interpretation of results can be challenging due to a paucity of normative reference data in this population. This risks overdiagnosis and unnecessary treatment with corticosteroids leading to the associated iatrogenic harm, including ...