Conditions / Genetic
hypogonadotropic hypogonadism 13 with or without anosmia
info · Genetic · ICD-10: E23.0
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32.
Signs and symptoms
- Decreased circulating luteinizing hormone level
- Decreased circulating follicle stimulating hormone concentration
- Decreased serum estradiol
- Hypogonadotropic hypogonadism
- Hypoplasia of the uterus
- Delayed skeletal maturation
- Anosmia