title: Familial testotoxicosis in a Chinese family.
abstract: We report two cases of 'familial testotoxicosis' in a family of Southern Chinese descent. The proband, an 8-year 4-month-old boy and his 35-year-old father both presented with early sexual development. In both cases the testicular volume was only 6 ml despite fully developed secondary sexual characteristics. Both patients had adult testosterone concentrations but a suppressed gonadotrophin response to gonadotrophin-releasing hormone. The suppressed gonadotrophin response to gonadotrophin-releasing hormone in the father suggests that autonomous gonadal production of sex steroid by the testes can persist well into adult life in some patients with familial testotoxicosis.
authors.affiliation: Department of Paediatrics, University of Hong Kong, Queen Mary Hospital, Pokfulam.
authors.forename: Y J
authors.initials: YJ
authors.lastname: Lim
authors.forename: L C
authors.initials: LC
authors.lastname: Low
mesh_terms: D000328:Adult; D002648:Child; D002681:China / Q000208:ethnology; D007987:Gonadotropin-Releasing Hormone / Q000502:physiology*; D006065:Gonadotropins, Pituitary / Q000097:blood / Q000378:metabolism*; D006801:Humans; D007985:Leydig Cells / Q000502:physiology; D008297:Male; D011629:Puberty, Precocious / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013737:Testis / Q000378:metabolism / Q000473:pathology; D013739:Testosterone / Q000097:blood
chemical_list: D006065:Gonadotropins, Pituitary; D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone