Conditions / Genetic
hypogonadotropic hypogonadism 6 with or without anosmia
info · Genetic · ICD-10: E23.0
A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene.
Signs and symptoms
- Micropenis
- Hypogonadotropic hypogonadism
- Delayed skeletal maturation
- Small pituitary gland
- High palate
- Primary amenorrhea
- Cryptorchidism
- Sensorineural hearing impairment
- Delayed puberty
- Cleft lip