Congenital anorchia: Difference between revisions
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==Overview == | |||
'''Anorchia''', is a medical condition where both [[testes]] are absent at [[childbirth|birth]]. Individuals with this condition have a 46,XY chromosome constellation. | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
Within a few weeks of [[fertilization]], the [[embryo]] develops rudimentary [[sex organs]], which are crucial to the development of the [[reproductive system]]. In the human male, if these fail to develop within eight weeks, the baby will have [[female]] genitalia (see [[Swyer syndrome]]). If the testes are lost between eight and 10 weeks, the baby will have [[ambiguous genitalia]] when it's born. However, if the testes are lost after 14 weeks, the baby will have a normal male [[reproductive system]], other than the absence of testes. | |||
== | ==Physical Examination== | ||
===Appearance of the Patient=== | |||
* Lack of [[Secondary sex characteristics]] | |||
===Genitals=== | |||
* Empty [[scrotum]] | |||
==Laboratory Findings== | |||
===Electrolyte and Biomarker Studies=== | |||
[[Medical test|Tests]] include: | |||
* Low [[testosterone]] levels | |||
* Elevated [[follicle stimulating hormone]] and [[luteinizing hormone]] levels | |||
* X,Y [[karyotype]] | |||
* Low [[anti-Mullerian hormone]] levels | |||
===MRI=== | |||
* Imaging showing absent gonadal tissue | |||
===Ultrasound=== | |||
* Imaging showing absent gonadal tissue | |||
===Other Diagnostic Studies=== | |||
* Low [[bone density]] | |||
* Surgical exploration for evidence of male gonadal tissue | |||
Treatment includes [[androgen]] (male hormone) supplementation, testicular prosthetic implantation, and psychological support. | Treatment includes [[androgen]] (male hormone) supplementation, testicular prosthetic implantation, and psychological support. | ||
Revision as of 15:42, 20 September 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Anorchia, is a medical condition where both testes are absent at birth. Individuals with this condition have a 46,XY chromosome constellation.
Natural History, Complications, and Prognosis
Natural History
Within a few weeks of fertilization, the embryo develops rudimentary sex organs, which are crucial to the development of the reproductive system. In the human male, if these fail to develop within eight weeks, the baby will have female genitalia (see Swyer syndrome). If the testes are lost between eight and 10 weeks, the baby will have ambiguous genitalia when it's born. However, if the testes are lost after 14 weeks, the baby will have a normal male reproductive system, other than the absence of testes.
Physical Examination
Appearance of the Patient
- Lack of Secondary sex characteristics
Genitals
- Empty scrotum
Laboratory Findings
Electrolyte and Biomarker Studies
Tests include:
- Low testosterone levels
- Elevated follicle stimulating hormone and luteinizing hormone levels
- X,Y karyotype
- Low anti-Mullerian hormone levels
MRI
- Imaging showing absent gonadal tissue
Ultrasound
- Imaging showing absent gonadal tissue
Other Diagnostic Studies
- Low bone density
- Surgical exploration for evidence of male gonadal tissue
Treatment includes androgen (male hormone) supplementation, testicular prosthetic implantation, and psychological support.
Other names for anorchia include
- congenital anorchia
- vanishing testes syndrome
- vanishing testes
- empty scrotum
- testicular regression syndrome (TRS)