Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.

Abstract:

:A patient with an apparently normal 46, XY karyotype, suffering from pure gonadal dysgenesis and of short stature was investigated. The patient, who was growth retarded, was a 30-year-old married Japanese woman with a history of primary amenorrhea and infertility with a weight of 42 kg and a height of 146 cm. She has a phenotypically and karyotypically normal dizygotic twin brother with normal development. Southern-blot and polymerase chain-reaction analyses revealed no apparent deletions in the patient's Y chromosome, including the sex-determining region Y (SRY). The DNA sequencing of the SRY gene showed a 100% nucleotide sequence identity with the reported cloned sequence. Sex reversal in the present case may be due to mutation at a locus other than SRY in the sex determining pathway, a gene potentially involved in the determination of human constitution.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Tsutsumi O,Iida T,Taketani Y,Sugase M,Nakahori Y,Nakagome Y

doi

10.1507/endocrj.41.281

subject

Has Abstract

pub_date

1994-06-01 00:00:00

pages

281-5

issue

3

eissn

0918-8959

issn

1348-4540

journal_volume

41

pub_type

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