17-beta-hydroxysteroid dehydrogenase deficiency overview: Difference between revisions
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==Overview== | ==Overview== | ||
'''17-beta-hydroxysteroid dehydrogenase deficiency''' is a rare [[autososmal]] [[recessive]] [[developmental]] [[disorder]] that affects male [[sexual]] [[development]]. Individuals with this condition are genetically male and have [[testes]], but do not produce enough [[testosterone]]. 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 male with [[XY]] [[chromosomes]] with [[phenotype]] [[female]] or [[ambigiounal]] [[external]] [[genitalia]] which is the external genitalia do not look clearly male or clearly female , characterized by [[clitoromegaly]], [[posterior]] [[labioscrotal]] fusion and [[perineal]] [[blind]] [[vaginal]] [[pouch]]. [[Testes]] are located in [[inguinal]] or in the [[labioscrotal folds]]. The [[internal]] [[urogenital]] [[tract]] ([[epididymides]], [[vasa deferentia]], [[seminal vesicles]], [[ejaculatory ducts]]) is well developed; [[prostate]] and [[Müllerian structures]] are absent. Majority of cases do not present until [[puberty]], at which time [[peripheral]] conversion of [[androgen]] [[precursors]] causes ongoing [[virilization]]. Although some patients with less severe defects are brought up as males, affected males are usually raised as girls. During puberty, the affected patients present with either [[primary amenorrhea]] or sudden onset of virilization and most of the affected individuals develop male [[secondary sex characteristics]], such as increased [[muscle mass]], [[deepening]] of the [[voice]], and development of [[male]] [[pattern]] body [[hair]]. [[HSD17B3]] gene [[mutations]] result in a 17-beta hydroxysteroid dehydrogenase 3 enzyme with decrease or no activity, reducing production of [[testosterone]] from [[androstenedione]]. [[Genetic]] [[analysis]] can confirm the [[diagnosis]]. [[Gonadectomy]] is recommended to prevent continuous [[virilization]] if a female [[gender]] [[identity]] is established. The risk of [[testicular]] [[neoplasia]] has not been determined, a point which should be discussed if patients choose to transition into a male gender role. All affected people with the disease are [[infertile]]. | '''17-beta-hydroxysteroid dehydrogenase deficiency''' is a rare [[autososmal]] [[recessive]] [[developmental]] [[disorder]] that affects male [[sexual]] [[development]]. Individuals with this condition are genetically male and have [[testes]], but do not produce enough [[testosterone]]. 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 male with [[XY]] [[chromosomes]] with [[phenotype]] [[female]] or [[ambigiounal]] [[external]] [[genitalia]] which is the external genitalia do not look clearly male or clearly female , characterized by [[clitoromegaly]], [[posterior]] [[labioscrotal]] fusion and [[perineal]] [[blind]] [[vaginal]] [[pouch]]. [[Testes]] are located in [[inguinal]] or in the [[labioscrotal folds]]. The [[internal]] [[urogenital]] [[tract]] ([[epididymides]], [[vasa deferentia]], [[seminal vesicles]], [[ejaculatory ducts]]) is well developed; [[prostate]] and [[Müllerian structures]] are absent. Majority of cases do not present until [[puberty]], at which time [[peripheral]] conversion of [[androgen]] [[precursors]] causes ongoing [[virilization]]. Although some patients with less severe defects are brought up as males, affected males are usually raised as girls. During puberty, the affected patients present with either [[primary amenorrhea]] or sudden onset of virilization and most of the affected individuals develop male [[secondary sex characteristics]], such as increased [[muscle mass]], [[deepening]] of the [[voice]], and development of [[male]] [[pattern]] body [[hair]]. [[HSD17B3]] gene [[mutations]] result in a 17-beta hydroxysteroid dehydrogenase 3 enzyme with decrease or no activity, reducing production of [[testosterone]] from [[androstenedione]]. [[Genetic]] [[analysis]] can confirm the [[diagnosis]]. [[Gonadectomy]] is recommended to prevent continuous [[virilization]] if a female [[gender]] [[identity]] is established. The risk of [[testicular]] [[neoplasia]] has not been determined, a point which should be discussed if patients choose to transition into a male gender role. All affected people with the disease are [[infertile]]. | ||
==Historical Perspectives== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating 17 Beta hydroxysteroid Dehydrogenase Deficiency from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
==Diagnosis== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Molecular Genetic Studies=== | |||
===Genotyping=== | |||
===Pelvic X ray=== | |||
===CT=== | |||
===Ultrasound=== | |||
===Other Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Primary Prevention=== | |||
===Secondary Prevention=== | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 07:54, 6 October 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. Individuals with this condition are genetically male and have testes, but do not produce enough testosterone. 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 male with XY chromosomes with phenotype female or ambigiounal external genitalia which is the external genitalia do not look clearly male or clearly female , characterized by clitoromegaly, posterior labioscrotal fusion and perineal blind vaginal pouch. Testes are located in inguinal or in the labioscrotal folds. The internal urogenital tract (epididymides, vasa deferentia, seminal vesicles, ejaculatory ducts) is well developed; prostate and Müllerian structures are absent. Majority of cases do not present until puberty, at which time peripheral conversion of androgen precursors causes ongoing virilization. Although some patients with less severe defects are brought up as males, affected males are usually raised as girls. During puberty, the affected patients present with either primary amenorrhea or sudden onset of virilization and most of the affected individuals develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. HSD17B3 gene mutations result in a 17-beta hydroxysteroid dehydrogenase 3 enzyme with decrease or no activity, reducing production of testosterone from androstenedione. Genetic analysis can confirm the diagnosis. Gonadectomy is recommended to prevent continuous virilization if a female gender identity is established. The risk of testicular neoplasia has not been determined, a point which should be discussed if patients choose to transition into a male gender role. All affected people with the disease are infertile.