17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis: Difference between revisions
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==Overview== | ==Overview== | ||
==Natural history, Complications and Prognosis== | ==Natural history, Complications and Prognosis== | ||
*The characteristic [[phenotype]] at birth is an [[XY]] individual with female or ambiguous external [[genitalia]]. | *The characteristic [[phenotype]] at birth is an [[XY]] individual with female or ambiguous external [[genitalia]]. | ||
*The majority of those affected have female external genitalia and consequently are raised as girls. | *The majority of those affected have female external genitalia and consequently are raised as girls. |
Revision as of 07:45, 10 May 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]
Overview
Natural history, Complications and Prognosis
- The characteristic phenotype at birth is an XY individual with female or ambiguous external genitalia.
- The majority of those affected have female external genitalia and consequently are raised as girls.
- 17 beta hydroxysteroid dehydrogenase deficiency has two features;
- Wolffian duct derivatives (epididymus, vas deferens, and seminal vesicles).
- Progressive virilization at the time of puberty, both of which depend on the action of testosterone.
- During puberty, individuals with this disease develop some male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern facial and body hair.
- Some affected individuals may also experience gynecomastia. People with this disorder are generally infertile.[1]
References
- ↑ Mains LM, Vakili B, Lacassie Y, Andersson S, Lindqvist A, Rock JA (2008). "17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite". Fertil Steril. 89 (1): 228.e13–7. doi:10.1016/j.fertnstert.2007.02.048. PMC 2259022. PMID 17509588.