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46,XY disorder of sex development due to isolated 17,20-lyase deficiency

Disease Summary
Associated Targets (4)
Tchem

2

Tclin

1

Tbio

1


Mondo Description 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.
Mondo Term and Equivalent IDs
MONDO:0019597:  46,XY disorder of sex development due to isolated 17,20-lyase deficiency
Orphanet:90796: 
UMLS:CN206443: