Skip to main content
. 2014 Sep 18;31(12):1573–1585. doi: 10.1007/s10815-014-0342-9

Table 1.

Genes in sex chromosomes associated with gonadal dysgenesis in Turner and Swyer syndromes. See Table 2 for ZFX and BMP15 genes. Superscripts correspond to the literature reference relating each gene with POI

Gene Locus Genetic disorder Other diseases associated
USP9X [10] Xp11.4 Turner syndrome Dermatomycosis
SRY [23] Yp11.31 Swyer syndrome Gonadal dysgenesis, hermaphroditism
NR5A1 [23] 9q33 Swyer syndrome Acute adrenal insufficiency, 46, XX gonadal dysgenesis
NR0B1 [24] Xp21.2 Swyer syndrome X-linked adrenal hipoplasia congenita, hypogonadotropism
DHH [24] 12q13.12 Swyer syndrome 46,XY partial gonadal dysgenesis, with minifascicularneuropathy