Gonadal dysgenesis
Gonadal dysgenesis | |
Testes: Gonadal Dysgenesis, Mixed; Aplastic-Appearing Tubules and Immature Tubules Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology | |
ICD-10 | Q99.1 |
ICD-9 | 758.6 |
MeSH | D006059 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Gonadal dysgenesis generally refers to a condition where gonadal development is abnormal, often only presenting streaks of connective tissue: so-called streak gonads.
Etiology
The condition may be due to:
- Turner syndrome, and its variations (i.e. mosaicism)
- XX gonadal dysgenesis, also pure gonadal dysgenesis, 46, XX
- Swyer syndrome, also pure gonadal dysgenesis, 46, XY
- Perrault syndrome
- Mixed gonadal dysgenesis
- Endocrine disruptors
Presentation
It is one of the causes of intersexuality, because the genitalia are determined to be neither exclusively male nor female.