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Testicular regression in a patient with virilized female phenotype

✍ Scribed by Rosenberg, Carla ;Mustacchi, Z. ;Braz, A. ;Arnhold, I. J. P. ;Chu, T. H. ;Carnevale, J. ;Frota-Pessoa, O.

Publisher: John Wiley and Sons
Year: 1984
Tongue: English
Weight: 410 KB
Volume: 19
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320190118

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✦ Synopsis

Abstract

The 16‐year old girl studied here had ambiguous external genitalia, ie, enlarged clitoris, pseudo vagina, and rudiments of Wolffian tubes. Her karyotype was 46, XY and she was H‐Y antigen‐positive. In spite of absence of gonadal tissue, genital virilization suggests presence of testes during embryogenesis. This patient is compared to 20 others with testicular regression from the literature. Autosomal‐recessive inheritance of this condition is proposed.

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