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Article

'H-syndrome': a multisystem genetic disorder with cutaneous clues.

BMJ case reports - 4 May 2021

Mori Krishna Shantilal, Balachandran Karthik, Asirvatham Adyne Reena, Mahadevan Shriraam

Abstract excerpt

We present a case of a 25-year-old man who came to our Endocrine Clinic for evaluation of short stature. He had a history of sensorineural hearing loss, hypertrichosis and hyperpigmentation with the thickening of the skin below the hip, gynecomastia and autoimmune haemolytic anaemia. Investigations showed that he had hypergonadotropic hypogonadism. His phenotype was consistent with that of a rare autosomal...

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Identifiers

PMID: 33947670
DOI: 10.1136/bcr-2020-238973
PMCID: PMC8098951

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