Etiology
NR5A1 mutations (steroidogenic factor 1, SF1, SF-1)
See also
vanishing testis
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Home > Keywords > Malformations > Developmental anomaly
Etiology
NR5A1 mutations (steroidogenic factor 1, SF1, SF-1)
See also
vanishing testis
Vanishing testis, testicular regression
adrenal hypoplasia congenita, primary adrenal hypoplasia, AHC
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, (...)