hypospadias

Etiology (Exemples)

 isolated hypospadias

• MAMLD1 (CXORF6) germline mutations (17086185)

 syndromic hypospadias

• intersex (pseudohermaphrodisms)
• Townes-Brocks syndrome
• WT1-associated hypospadias
• otopalatodigital syndrome type 2 (OTD2)

See also

 46,XY disorders of sex development (DSD)

References

 Mutational study of the MAMLD1-gene in hypospadias.Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A.
Eur J Med Genet. 2010 Mar 24. PMID: 20347055

 MAMLD1 (CXorf6): a new gene involved in hypospadias. Ogata T, Laporte J, Fukami M. Horm Res. 2009;71(5):245-52. PMID: 19339788

 MAMLD1 (CXorf6): a new gene for hypospadias. Ogata T, Wada Y, Fukami M. Sex Dev. 2008;2(4-5):244-50. MID: #P18987498#

 Mutations of CXorf6 are associated with a range of severities of hypospadias. Kalfa N, Liu B, Klein O, Audran F, Wang MH, Mei C, Sultan C, Baskin LS. Eur J Endocrinol. 2008 Oct;159(4):453-8. PMID: 18635673

 Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T. J Biol Chem. 2008 Feb 29;283(9):5525-32. PMID: 18162467

 CXorf6 is a causative gene for hypospadias. Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjöld A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T. Nat Genet. 2006 Dec;38(12):1369-71. PMID: 17086185