Endocrine Abstracts

Introduction: Early-onset androgen excess commonly presents in pre-pubertal girls as premature adrenarche (PA). Girls with PA have clinical signs of androgen excess, such as pubic/axillary hair, body odour, greasy hair, and moderately elevated adrenal androgens before their 8th birthday. There is conflicting evidence if girls with PA are at higher risk to have or develop metabolic dysfunction, or progress to developing Polycystic Ovary Syndrome (PCOS), the mos...

Background: Foetus is protected from high quantities of steroids by placental enzyme 11BHSD2. It converts steroids to inactive form (dexamethasone and betamethasone are exceptions). Exposure to high steroids for long time could saturate the enzyme. Maternal steroid use carries a theoretical risk for neonatal adrenal insufficiency (AI). The evidence remains controversial and most NICUs don’t check for AI in those infants. Two units in south Yorkshire recom...

Introduction: Evidence in the management of children with non-classical congenital adrenal hyperplasia (NCCAH) is limited. We describe the clinical presentations and treatment of NCCAH patients under a tertiary paediatric endocrine centre.Results: Data collected [reported in median(ranges)] identified 10(7M,3F) cases of NCCAH [21-hydroxylase deficiency(21-OHD)(n=9), 11-deoxycortisol deficiency(n=1)], ag...

Background: Effective management of adrenal insufficiency (AI) during sick day episodes requires adjusting oral glucocorticoid therapy or administering intramuscular injections to prevent adrenal crises. Given the critical nature of adrenal crisis management, educating families of young individuals with AI is essential.Aim: To critically appraise patient education concerning adrenal crisis management through a systematic...

Background: The most common form (90%) of CAH is 21-hydroxylase deficiency (21OHD). Management is with hydrocortisone ±fludrocortisone replacement while minimising side effects of androgen excess. Our aim was to review our CAH cohort and describe their characteristics, treatment regimens and growth.Methods: Retrospective data on height, weight, BMI, bone age and biochemical profiles was collected on 26 patients with...

Background: C Treatment in all forms of CAH includes lifelong replacement of steroids. Steroids have an impact on bone health in multiple ways and are known to cause osteoporosis when given in high doses or for a longer duration. Objective: To evaluate bone mineral density (BMD), using dual-energy X-ray absorptiometry (DEXA) scan in children with CAH taking long-term steroids presenting in the pediatric endocrinology war...

Adrenal crisis (AC) is a life-threatening episode of adrenal insufficiency (AI) resulting from impairment of glucocorticoid secretion by the adrenal cortex. Approximately 1 in 200 patients die from AC annually.1 AC is often precipitated by intercurrent illness, injury or surgery and can be prevented by increasing oral corticosteroid doses (‘stress dosing’) during illness. Parenteral hydrocortisone may be necessary if oral therapy cannot be absorbed or inef...

Introduction: An overview of a 14-year-old Duchenne muscular dystrophy patient who was subjected to steroid treatment and suffered greatly as a result. This case study illustrates how management effects can occasionally have a negative impact on our bodies via the lens of a patient. This event also shows that what’s important to patients might not always be the same as what’s important to medical professionals.Case hist...

Autoimmune polyglandular syndrome type 2 (APS-2) is cluster of autoimmune diseases characterized by autoimmune adrenal insufficiency and thyroid disease (Schmidt’ syndrome) with or without type 1 diabetes (carpenter syndrome). This autoimmune condition may be associated with hypogonadism, hypopituitarism, immunoglobulin A deficiency, myasthenia gravis, celiac disease, and vitiligo. Co-existence of myasthenia gravis and APS 2 is extremely rare and their common etiology has...