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hypospadias

Friday 13 June 2003

Etiology (Exemples)

- isolated hypospadias

- syndromic hypospadias

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, Nordenskj√∂ld 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, Nordenskj√∂ld 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

Portfolio

  • Perineal hypospadias in mosaic monosomy X (mosaicism 46,XX/46,XY)
  • Perineal hypospadias in mosaic monosomy X (mosaicism 46,XX/46,XY)