46,XY disorders of sex development (Other), including:
Persistent Mullerian duct syndrome;
Hypospadias;
Cryptorchidism

46,XY disorders of sex development (46,XY DSD) with other various causes includes persistent Mullerian duct syndrome, hypospadias, and cryptorchidism. During embryogenesis, regression of the Mullerian duct is induced by anti-Mullerian hormone (AMH) in normal 46,XY individuals. In perisitent Mullerian duct syndrome, mutations of the AMH and AMH receptor produce persistence of the uterus and Fallopian tubes in males. Hypospadias is a congenital malformation with ectopic opening of the urethral meatus. Compromised androgen effects can cause this malformation. Cryptorchidism, or undescended testes, is a condition controlled by AMH and insulin-like hormone 3.

Reproductive system disease

(Mullerian) AMH [HSA:268] [KO:K04665]
(Mullerian) AMHR2 [HSA:269] [KO:K04672]
(Hypospadias) AR [HSA:367] [KO:K08557]
(Hypospadias) MAMLD1 [HSA:10046]
(Cryptorchidism) INSL3 [HSA:3640]
(Cryptorchidism) GREAT [HSA:122042] [KO:K04307]

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:15878900 (description, gene)

Josso N, Belville C, di Clemente N, Picard JY

AMH and AMH receptor defects in persistent Mullerian duct syndrome.

Hum Reprod Update 11:351-6 (2005)

PMID:21256920 (description, gene)

Kalfa N, Philibert P, Baskin LS, Sultan C

Hypospadias: interactions between environment and genetics.

Mol Cell Endocrinol 335:89-95 (2011)

PMID:20920735 (description, gene)

Thorup J, McLachlan R, Cortes D, Nation TR, Balic A, Southwell BR, Hutson JM

What is new in cryptorchidism and hypospadias--a critical review on the testicular dysgenesis hypothesis.

J Pediatr Surg 45:2074-86 (2010)