Table 1

Consequences of mutations/deletions and duplications/translocations of genes involved in gonadal differentiation

Chromosome locationGonadal developmentAssociated disorderSex reversal/genital ambiguityMüllerian development
WAGR, Wilms’ tumour, aniridia, genitourinary anomalies, mental retardation; Denys-Drash (exonic mutations) WT, diffuse mesangial sclerosis; Frasier (intronic mutations) no WT, focal segmental glomerulosclerosis. Other abbreviations as for fig 1.
Gene mutation or deletion (loss of function)
WT111p13Dysgenesis (♀ and ♂)WAGR syndromeGenital ambiguity (♂)Variable (♂)
Denys-Drash syndromeSex reversal or genital ambiguity (♂)Variable (♂)
Frasier syndromeSex reversal (♂)Yes (♂)
SF19q33Dysgenesis (♂)Adrenal failureSex reversal (♂Yes (♂)
SRYYp11.3♂→ ovarySex reversal or genital ambiguity (♂)♂ (variable)
DAX1Xp21♂ DysgenesisAdrenal failure and hypogonadotrophic hypogonadism/impaired spermatogenesisNoNo
SOX917q24.3–25.1♂ Dysgenesis or ovary/ovotestisCampomelic dysplasiaSex reversal or genital ambiguity (♂)Variable
AMH19p 13.3–13.2NormalYes (♂)
Gene duplication or translocation (gain of function)
SRY Y fragment translocationYp11.3♀→ testisSex reversal or genital ambiguity (♀)No
DAX1 duplicationdupXp21♂ Dysgenesis or ovary/ovotestisSex reversal or genital ambiguity (♂)Variable
Wnt 4 duplicationDup 1p35♂ DysgenesisGenital ambiguity (♂)Yes
SOX9 duplicationdup17q24.3–25.1♀→ TestisGenital ambiguity (♀)No