Endocrine Abstracts

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...

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. ...