Table 6 The different types of clinical presentation in various DSD
Clinical presentation | Type of DSD |
|---|---|
Ambiguity of genitalia | Congenital adrenal hyperplasia, mixed gonadal dysgenesis:45 XO/46 XY, ovotesticular DSD 46XX/46 XY |
Male phenotype with hypospadias, undescended testis | 46 XY DSD, 46 XY partial gonadal dysgenesis Partial androgen insensitivity syndrome, defects of testosterone biosynthesis and action |
Features of cortisol deficiency early in life | Congenital adrenal hyperplasia |
Female phenotype with primary amenorrhea, sexual infantilism | Turner syndrome, 46 XX pure gonadal dysgenesis, 46 XY complete gonadal dysgenesis, Leydig cell hypoplasia, CAIS |
Eunuchoid male | Klinefelter’s syndrome |
Virilization at puberty (‘penis at 12’) | 5-alpha reductase deficiency, 17-BHSD deficiency |
‘Hernia uteri inguinale’ | Persistent Mullerian duct syndrome |
Testis seen in hernia sac of a female child | Complete androgen insensitivity syndrome |
Gross/cyclical hematuria in a child reared as male | Ovotesticular DSD: 46 XX, PMDS |
Isosexual precocity | Male CAH |