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Anorchia MeSH Supplementary Concept Data 2023


MeSH Supplementary
Anorchia
Unique ID
C537770
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537770
Entry Term(s)
Absence of testes
Anorchia, Familial
Congenital absence of testes
Empty scrotum
Testicular Regression, Embryonic
Testicular regression syndrome
Vanishing testes
XY gonadal dysgenesis syndrome
Xy Gonadal Agenesis Syndrome
Registry Number
0
Heading Mapped to
*Gonadal Dysgenesis, 46,XY
Testis / *abnormalities
Frequency
90
Note
The absence of GONADS in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian duct rudiments (or both) are present. Virilizing effects due to early testicular tissue range from none or very slight external genital abnormalities in phenotypic females to the anorchic phenotypic male . Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common but breast development is absent. Nongenital anomalies may also be present. Inheritance appears to be autosomal recessive with sex limitation. OMIM: 273250
Date of Entry
2010/11/13
Revision Date
2015/08/17
Anorchia Preferred
Congenital absence of testes Related
Testicular regression syndrome Related
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