Developmental anomaly

Articles

• congenital adrenal hypoplasia
  16 January 2006

  adrenal hypoplasia congenita, primary adrenal hypoplasia, AHC

• vanishing testis
  13 May 2008

  Vanishing testis, testicular regression

• sex reversal
  7 October 2010

  Types
  XY female
  XX male
  References
  Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, Portnoï MF. Am J Med Genet A. 2004 Jul 30;128A(3):325-30. PMID: #15216557#
  Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients. Domenice S, Corrêa RV, Costa EM, Nishi MY, (...)

• bilateral vanishing testis
  7 October 2010

  Etiology
  NR5A1 mutations (steroidogenic factor 1, SF1, SF-1)
  See also
  vanishing testis