46,XY disorders of sex development (Disorders in androgen synthesis or action), including:
Congenital adrenal hyperplasias;
Leydig cell hypoplasia;
Androgen insensitivity syndrome (AIS)

46,XY disorders of sex development (46,XY DSD) can be endocrine-related. Several enzymatic defects that result in insufficient production of testosterone have been reported. These androgen defects and impaired differentiation of Leydig cell, which secretes testosterone, can lead to ambiguous or completely feminized genitalia in 46,XY individuals. Furthermore, defective androgen action due to androgen receptor defects also cause feminization of 46,XY fetuses although they have normal levels of testosterone.

Reproductive system disease

(AIS) AR [HSA:367] [KO:K08557]
(Leydig) LHCGR [HSA:3973] [KO:K04248]
STAR [HSA:6770] [KO:K16931]
CYP11A1 [HSA:1583] [KO:K00498]
CYP17 [HSA:1586] [KO:K00512]
HSD3B2 [HSA:3284] [KO:K00070]
HSD17B3 [HSA:3293] [KO:K10207]
POR [HSA:5447] [KO:K00327]
SRD5A2 [HSA:6716] [KO:K12344]
DHCR7 [HSA:1717] [KO:K00213]

PMID:18279784 (description, gene)

Hughes IA

Disorders of sex development: a new definition and classification.

Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)

PMID:18811725 (description, gene)

Mendonca BB, Domenice S, Arnhold IJ, Costa EM

46,XY disorders of sex development (DSD).

Clin Endocrinol (Oxf) 70:173-87 (2009)

PMID:20301714 (description, gene)

Ostrer H

46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

(1993)

PMID:21397195 (description, gene)

Rey RA, Grinspon RP

Normal male sexual differentiation and aetiology of disorders of sex development.

Best Pract Res Clin Endocrinol Metab 25:221-38 (2011)

PMID:16327292 (description)

Frimberger D, Gearhart JP

Ambiguous genitalia and intersex.

Urol Int 75:291-7 (2005)