Gonadoblastoma presenting as isosexual precocious puberty in a genetic female.
A 6 1/2-year-old female with pseudoprecocious puberty was found to have a gonadoblastoma. Her karyotype was 46, XX; serum estradiol level was markedly elevated; and androgens were within the range of normal. The importance of the Y chromosome and dysgenetic gonad in the predisposition to development of a gonadoblastoma is reviewed. A further categorization of gonadoblastomas based on the presence or absence of the Y chromosome is suggested.
D002648:Child; D003937:Diagnosis, Differential; D004407:Dysgerminoma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D010051:Ovarian Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D011629:Puberty, Precocious / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics