Searchable abstracts of presentations at key conferences in endocrinology
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45th Meeting of the British Society for Paediatric Endocrinology and Diabetes

ea0051p010 | Adrenal | BSPED2017

An unusual presentation of congenital lipoid adrenal hyperplasia and novel STAR mutation in two siblings

Andrews Edward , Taylor Carl , Metherell Lou , Buonocore Frederica , Achermann John , Maharaj Avinaash , Davies Justin H

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is rare and caused by mutations in the steroidogenic acute regulatory (STAR) gene, which is involved in a key step in the synthesis of pregnenolone from cholesterol. Cases typically present in the first days of life with severe adrenal crisis, salt wasting and severely disrupted androgen secretion which may result in sex reversal in 46, XY individuals.Case report: We present a 21-month-o...

ea0051p011 | Adrenal | BSPED2017

A case report of functioning adrenocortical tumor in a female child

Al-Hashmi Laila , Farrelly Paul , Brennan Bernadette , Cheesman Edmund , Patel Leena

Androgen-producing tumours of the adrenal are extremely rare. The androgen effects and malignancy potential can be detrimental in children. Adrenal adenomas are usually small, whereas carcinomas are larger and aggressive. We present the challenges in managing a female toddler with a large androgen secreting adrenal adenoma. A 22 months old 46 XX girl presented with features of hyperandrogenism but not of glucocorticoid or mineralocorticoid excess: tall stature, facial and pubi...

ea0051p012 | Adrenal | BSPED2017

Could this be Adrenal Crisis in Retrospect? – Acute Cardiovascular Collapse in a 9-Year-Old Girl

Maduemem Kene , Davis Jamie , Chroinin Muireann Ni , O'Connell Susan

Introduction: Adrenal crisis is a life-threatening condition and an absolute medical emergency, requiring prompt diagnosis and treatment to prevent grave morbidity and mortality. We describe a case that posed significant diagnostic dilemma due to incongruity of history and clinical findings.Case Report: A 9-year-old girl presented acutely with loss of consciousness, GCS of 5/15. This was preceded by a 3-day history of abdominal pain, vomiting and diarrho...

ea0051p013 | Adrenal | BSPED2017

Two neonates with foetal adrenal haemorrhage in a tertiary care centre

Sharma Anu , Smit Elisa

Introduction: Foetal adrenal haemorrhage is relatively rare with a reported incidence of 0.2% in neonates. We share our experience of two neonates who were diagnosed to have adrenal haemorrhage in our centre over last 5 years. We also carried out a retrospective review of literature on existing evidence regarding diagnosis and evaluation of neonates with adrenal haemorrhage.Methodology: Two neonates with confirmed adrenal haemorrhage were identified from...

ea0051p014 | Adrenal | BSPED2017

Cortisol or NOT

Thanawala Nehal , Margabanthu Gomathi

Baseline cortisol values may not necessarily rule out AddisonÂ’s disease. We report a case with vague symptomatology,normal coritsol baseline values with high index of suspicion and positive low dose synacthen test which lead up to the diagnosis. Young boy age 9 presented with low serum sodium levels and intermittent concern with abdominal symptoms, exhaustion and altered behaviour. He had normal baseline pituitary function including cortisol of 223 that decreased to 156 (...