KEGG   DISEASE: H00609Help
Entry
H00609                      Disease                                

Name
46,XY disorders of sex development (Other), including:
Persistent Mullerian duct syndrome;
Hypospadias;
Cryptorchidism
Description
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.
Category
Reproductive system disease
BRITE hierarchy
Pathway
Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Neuroactive ligand-receptor interaction
Gene
(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]
Other DBs
Reference
PMID:18279784 (description, gene)
  Authors
Hughes IA
  Title
Disorders of sex development: a new definition and classification.
  Journal
Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
Reference
PMID:18811725 (description, gene)
  Authors
Mendonca BB, Domenice S, Arnhold IJ, Costa EM
  Title
46,XY disorders of sex development (DSD).
  Journal
Clin Endocrinol (Oxf) 70:173-87 (2009)
Reference
PMID:15878900 (description, gene)
  Authors
Josso N, Belville C, di Clemente N, Picard JY
  Title
AMH and AMH receptor defects in persistent Mullerian duct syndrome.
  Journal
Hum Reprod Update 11:351-6 (2005)
Reference
PMID:21256920 (description, gene)
  Authors
Kalfa N, Philibert P, Baskin LS, Sultan C
  Title
Hypospadias: interactions between environment and genetics.
  Journal
Mol Cell Endocrinol 335:89-95 (2011)
Reference
PMID:20920735 (description, gene)
  Authors
Thorup J, McLachlan R, Cortes D, Nation TR, Balic A, Southwell BR, Hutson JM
  Title
What is new in cryptorchidism and hypospadias--a critical review on the testicular dysgenesis hypothesis.
  Journal
J Pediatr Surg 45:2074-86 (2010)

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