Disorders of sex development
The table below lists the most common disorders of sex development:
| Name | Karyotype | Notes |
|---|---|---|
| Androgen insensitivity syndrome | 46 XY | X-linked recessive condition. Defect in androgen receptor results in end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype. Rudimentary vagina and testes present but no uterus. Testosterone, oestrogen and LH levels are elevated |
| 5-α reductase deficiency | 46 XY | Autosomal recessive condition. Results in the inability of males to convert testosterone to dihydrotestosterone (DHT). Individuals have ambiguous genitalia in the newborn period. Hypospadias is common. Virilization at puberty. |
| Male pseudohermaphroditism | 46 XY | Individual has testes but external genitalia are female or ambiguous. may be secondary to androgen insensitivity syndrome |
| Female pseudohermaphroditism | 46 XX | Individual has ovaries but external genitalia are male (virilized) or ambiguous. May be secondary to congenital adrenal hyperplasia |
| True hermaphroditism | 46 XX or 47 XXY | Very rare, both ovarian and testicular tissue are present |