XY gonadal dysgenesis: aberrant testicular differentiation in the presence of H-Y antigen.

Abstract:

:Six patients with pure nonmosaic 46,XY gonadal dysgenesis (XY GD) and histocompatibility H-Y antigen titers in the normal male range (H-Y+) are presented. Clinical characteristics included a female phenotype, masculine skeletal characteristics, signs of virilization, and primary amenorrhea. All individuals had unambiguous female external genitalia, a hypoplastic uterus, bilateral tubes, and streak gonads. Histomorphologic evaluation of the gonads revealed various abortive testicular and ovarian elements capable of steroid production. Gonadal tumors were found in 4 patients (gonadoblastoma, dysgerminoma, granulosa cell tumor, myxofibroma). Plasma and urinary androgens and basal and stimulated gonadotropin levels were elevated prior to gonadectomy. Data show that the presence of the H-Y antigen per se does not guarantee normal testicular organogenesis. It is hypothesized that defective H-Y antigen binding to its gonadal receptors triggers aberrant testicular differentiation in 46,XY H-Y+ GD.

journal_name

Obstet Gynecol

authors

Moltz L,Schwartz U,Pickartz H,Hammerstein J,Wolf U

subject

Has Abstract

pub_date

1981-07-01 00:00:00

pages

17-25

issue

1

eissn

0029-7844

issn

1873-233X

journal_volume

58

pub_type

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