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.

• Authors: L Moltz, U Schwartz, H Pickartz, J Hammerstein, U Wolf
• Journal: Obstetrics and gynecology (Obstet Gynecol) Vol. 58 Issue 1 Pg. 17-25 (Jul 1981) ISSN: 0029-7844 [Print] United States
• PMID: 7195530 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Androgens
• H-Y Antigen

Topics

• Adult
• Amenorrhea (pathology)
• Androgens (blood, urine)
• Female
• Gonadal Dysgenesis (genetics)
• Gonadal Dysgenesis, 46,XY (diagnosis, genetics, pathology)
• H-Y Antigen (analysis)
• Humans
• Male
• Models, Genetic
• Ovary (pathology)
• Testis (pathology)