Gonadal dysgenesis

Gonadal dysgenesis generally refers to a condition where gonadal development is abnormal, often only presenting streaks of connective tissue: so-called streak gonads.

This condition will occur if there is an absence of Mullerian inhibiting factor with concomitant absence of testosterone. The absence of testosterone will result in the Wolffian ducts' regression; normal male internal reproductive tracts will not develop. The absence of Mullerian inhibiting factor will allow for the Mullerian ducts to differentiate into the oviducts and uterus. In sum, this individual will be genotypically male (i.e., XY), yet will possess female-like internal and external reproductive characteristics.

Causes

• 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

See also

• Ovotestis

References

• Al-Awadi, Sadika A. MD. "Mixed Gonadal Dysgenesis with Structural Anomalies of the Y-Chromosome. Kuwait Medical Genetics Center, Maternity Hospital, 1994.
• Berhrman, Richard E. MD. Nelson textbook of Pediatrics, W.B. Saunders London, 14th edition, 1992. "45,X/46,XY Gonadal Dysgenesis."
• Kaplan Q-bank, Step 1, USMLE (2007)
• Klug, William S. and Cummings, Michael R. Concepts of Genetics, 4th edition, Prentice Hall NJ. 1994. "The Y-Chromosome and Male Development"
• Olson, GP. "Testicular feminization Syndrome", American Journal of Primary Health Care. Feb.1988.