Searchable abstracts of presentations at key conferences in endocrinology
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43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes


Oral Communications 2

ea0039oc2.1 | Oral Communications 2 | BSPED2015

Severe hyponatremia with neurological involvement in a child with adrenal insufficiency

Frerichs Carley , Alsaffar Hussain , Ramakrisnan Renuka , Dharmaraj Poonam , Kumar Ram , Senniappan Senthil , Das Urmi

Case report: A 13-year-old male presented with a 10-day history of vomiting. He was haemodynamically stable. His biochemistry was evaluated revealing a sodium level of 96 mmol/l. He had been seen 2 years previously with short stature. Sodium was normal at this time. He had speech and language delay, learning difficulties and was under investigation for autism. He had reportedly salt craved for years. Potassium, urea, creatinine, and glucose were normal throughout the admission...

ea0039oc2.2 | Oral Communications 2 | BSPED2015

Inguinal hernia repair in a girl, a missed opportunity to diagnose 17β-HSD

Jamil Syed Furrukh , Cheetham Tim

17β-hydroxysteroid dehydrogenase deficiency (17β-HSD) is a rare autosomal recessive disorder of sexual development affecting testosterone biosynthesis. Affected individual typically present with genital ambiguity at birth, inguinal gonads or excessive virilisation at puberty in a phenotypic female.Case: We present a case of a 14-year-old girl who was referred by the GP because of concerns about upper lip hair growth and deepening of her voice. ...