Gonadal dysgenesis

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Gonadal dysgenesis Classification and external resources
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.

Causes

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

v • d • e Pathology: chromosome abnormalities (Q90-Q99, 758)
Autosomal trisomies	Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22), Trisomy 22, Trisomy 16
Autosomal monosomies/deletions	Wolf-Hirschhorn syndrome (4), Cri du chat (5), Angelman syndrome/Prader-Willi syndrome (15), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22)
X/Y linked	Monosomy: Turner syndrome (XO) Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY, Other Karyotypes: XXXX, XXYY, XXXXX, XXXXY
Translocations	Philadelphia chromosome, Burkitt's lymphoma
Other	Fragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis)

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .