Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty.

Simsek, Enver

Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty. [electronic resource] - Fertility and sterility May 2005 - 1548-51 p. digital

Publication Type: Case Reports; Journal Article; Review

1556-5653

10.1016/j.fertnstert.2004.11.063 doi


Adolescent
Chromosomes, Human, X--genetics
Disorders of Sex Development--enzymology
Female
Humans
Lyases--deficiency
Puberty, Delayed--enzymology