Intersex variations
- 17β-Hydroxysteroid dehydrogenase III deficiency
- 45,X/46,XY mosaicism
- 5α-Reductase 2 deficiency
- Ablepharon macrostomia syndrome
- Androgen deficiency
- Androgen insensitivity syndrome
- Anorchia
- Aromatase deficiency
- Aromatase excess syndrome
- Barber–Say syndrome
- Campomelic dysplasia
- Clitoromegaly
- Complete androgen insensitivity syndrome
- Cryptorchidism
- Delayed puberty
- Denys–Drash syndrome
- Diphallia
- Estrogen insensitivity syndrome
- Hypoestrogenism
- Hypogonadotropic hypogonadism
- Inborn errors of steroid metabolism
- Isolated 17,20-lyase deficiency
- Leydig cell hypoplasia
- Lipoid congenital adrenal hyperplasia
- Micropenis
- Mild androgen insensitivity syndrome
- Müllerian agenesis
- Opitz G/BBB syndrome
- Ovotestis
- Partial androgen insensitivity syndrome
- Persistent Müllerian duct syndrome
- Polyorchidism
- Precocious puberty
- Progestin-induced virilization
- Ring chromosome 18
- SCARF syndrome
- Turner syndrome
- Uterus didelphys
- WNT4 deficiency
- XXXXY syndrome
- XXXY syndrome
- XXYY syndrome
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