pure gonadal dysgenesis


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pure gonadal dysgenesis

Endocrinology An intersex disorder characterized by 46,XX and normal external ♀ genitalia at birth; internally, bilateral streak gonads; Pts usually seek medical advice for pubescent amenorrhea; ♀ are sterile. See Intersex disorder.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
The gonads of XY pure gonadal dysgenesis have a high risk of gonadoblastoma and germ cell tumour, particularly dysgerminoma.
This a case of pure gonadal dysgenesis in a 46,XY phenotypically female patient, who presented with primary amenorrhoea and infertility.
(107) In Swyer syndrome, (108) also referred to as 46,XY pure gonadal dysgenesis, individuals have a female phenotype with unambiguously female genitalia at birth, normal mullerian structures, and presentation associated with primary amenorrhea.