Presence of both Wolffian and Mullerian ducts are seen in all EXCEPT:
Correct Answer: FSH receptor mutation
Description: AMH DEFICIENCY or PMDS (Persistant Mullerian Duct Syndrome) Karyotype = 46XY and normal male external genitalia. Persistent Mullerian duct syndrome (PMDS) refers to the presence of a uterus and sometimes other Mullerian duct derivatives in a male. Both the Wolffian ducts and Mullerian ducts develop. The tissues are often intewined, resulting in obstruction or non patency of the vas deferens or other pas of the male excretory ducts. Ovotestis is seen in true hermaphroditism. Both ovaries and testis are present. There is ambiguity of external genitalia. The internal structures depend on degree of differentiation of the gonads. Mixed gonadal dysgenesis: 45X/46XY is the most common karyotype seen. A wide variety of phenotypes is seen ranging from ambiguous genitalia to normal feile males or normal female phenotype with bilateral streak gonads. The usual gonadal pattern is streak gonad on one side and a dysgenetic or normal testis on other side. Mullerian and Wolffian duct development correlates with the character of the ipsilateral gonad. Persons with FSH receptor mutation have either Wolffian duct (males) or Mullerian duct derivatives (females). Never both. FSH receptor mutation causes infeility or subfeility in males or females.
Category:
Gynaecology & Obstetrics
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