17-beta-hydroxysteroid dehydrogenase deficiency overview: Difference between revisions
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{{SK}} 17-beta hydroxysteroid dehydrogenase III deficiency, 17-ketosteroid reductase deficiency of testis, 17-KSR deficiency, Neutral 17-beta-hydroxysteroid oxidoreductase deficiency, Male Pseudohermaphroditism with gynecomastia, Testosterone 17-beta-dehydrogenase deficiency | {{SK}} 17-beta hydroxysteroid dehydrogenase III deficiency, 17-ketosteroid reductase deficiency of testis, 17-KSR deficiency, Neutral 17-beta-hydroxysteroid oxidoreductase deficiency, Male Pseudohermaphroditism with gynecomastia, Testosterone 17-beta-dehydrogenase deficiency | ||
==Overview== | ==Overview== | ||
'''17-beta-hydroxysteroid dehydrogenase deficiency''' is a rare [[autososmal]] [[recessive]] [[developmental]] [[disorder]] that affects male [[sexual]] [[development]]. The synthesis of [[testestrone]] is impaired and the levels in the serum is low which disrupts the formation of [[external]] [[male]] [[genitalia]] before [[birth]]. The affected individual is [[genetically]] male with [[XY]] [[chromosomes]] with [[phenotype]] [[female]] or [[ambigiounal]] [[external]] [[genitalia]]. They are raised as girls. | '''17-beta-hydroxysteroid dehydrogenase deficiency''' is a rare [[autososmal]] [[recessive]] [[developmental]] [[disorder]] that affects male [[sexual]] [[development]]. The synthesis of [[testestrone]] is impaired and the levels in the serum is low which disrupts the formation of [[external]] [[male]] [[genitalia]] before [[birth]]. The affected individual is [[genetically]] male with [[XY]] [[chromosomes]] with [[phenotype]] [[female]] or [[ambigiounal]] [[external]] [[genitalia]]. Those who are affected have [[testes]] which are [[undescebded]] or loncated in the [[inguinal]] canal or [[labia majora]]. They are raised as girls, as majority of them have [[external]] [[female]] [[genitalia]]. | ||
==References== | ==References== | ||
Revision as of 11:48, 12 January 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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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]
Synonyms and keywords: 17-beta hydroxysteroid dehydrogenase III deficiency, 17-ketosteroid reductase deficiency of testis, 17-KSR deficiency, Neutral 17-beta-hydroxysteroid oxidoreductase deficiency, Male Pseudohermaphroditism with gynecomastia, Testosterone 17-beta-dehydrogenase deficiency
Overview
17-beta-hydroxysteroid dehydrogenase deficiency is a rare autososmal recessive developmental disorder that affects male sexual development. The synthesis of testestrone is impaired and the levels in the serum is low which disrupts the formation of external male genitalia before birth. The affected individual is genetically male with XY chromosomes with phenotype female or ambigiounal external genitalia. Those who are affected have testes which are undescebded or loncated in the inguinal canal or labia majora. They are raised as girls, as majority of them have external female genitalia.