17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis: Difference between revisions
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{{17-beta-hydroxysteroid dehydrogenase deficiency}} | {{17-beta-hydroxysteroid dehydrogenase deficiency}} | ||
Originally described in 1971 by Saez and his colleagues, the characteristic phenotype at birth is an XY individual with female or ambiguous external genitalia (3,4). Testes may be undescended or located in the inguinal canal or labia majora. The majority of those affected have female external genitalia and consequently are raised as girls (1). Two interesting features of this disease are the presence of Wolffian duct derivatives (epididymus, vas deferens, and seminal vesicles) and the progressive virilization at the time of puberty, both of which depend on the action of testosterone | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 09:01, 23 March 2022
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17-beta-hydroxysteroid dehydrogenase deficiency Microchapters |
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Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis On the Web |
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FDA on 17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis |
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CDC on 17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis |
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Directions to Hospitals Treating 17-beta-hydroxysteroid dehydrogenase deficiency |
Originally described in 1971 by Saez and his colleagues, the characteristic phenotype at birth is an XY individual with female or ambiguous external genitalia (3,4). Testes may be undescended or located in the inguinal canal or labia majora. The majority of those affected have female external genitalia and consequently are raised as girls (1). Two interesting features of this disease are the presence of Wolffian duct derivatives (epididymus, vas deferens, and seminal vesicles) and the progressive virilization at the time of puberty, both of which depend on the action of testosterone