46,XY disorder of sex development due to testosterone secretion defect

Definition:

46,XY disorders of sex development (46,XY DSD) are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization, and the presence or absence of Mullerian structures. Several enzymatic defects that result in insufficient production of testosterone have been reported. And impaired differentiation of Leydig cell, which secretes testosterone, can lead to 46,XY DSD.

References:

[1]. Berenice Bilharinho Mendonca, et al. 46,XY disorders of sex development (DSD). Clin Endocrinol (Oxf). 2009 Feb;70(2):173-87. [Content Brief]

[2]. Ieuan A Hughes, et al. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab. 2008 Feb;22(1):119-34. [Content Brief]

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