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

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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.

See also

• Ovotestis