46,xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

CYP17A1, CYB5A, WBP1L, AMH, CYP2B6, POMC, PPIG

Drugs

Adeno-associated viral vector expressing human 21-hydroxylase, Hydrocortisone ( ALKINDI ), Hydrocortisone (modified release tablet) ( PLENADREN )

Adeno-associated viral vector expressing human 21-hydroxylase, Hydrocortisone ( ALKINDI ), Hydrocortisone (modified release tablet) ( PLENADREN ), Nevanimibe, Prasterone, Pyrazolo[1,5-a]pyrimidine, 3-[4-chloro-2-(4-morpholinyl)-5-thiazolyl]-7-(1-ethylpropyl)-2,5-dimethyl-pyrazolo[1,3-a]pyrimidine

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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.