hypogonadotropic hypogonadism 23 with or without anosmia

info · Genetic · ICD-10: Q56.1

A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.

Signs and symptoms

Decreased circulating luteinizing hormone level
Decreased serum testosterone concentration
Decreased circulating dihydrotestosterone concentration
Elevated circulating follicle stimulating hormone level
Male hypogonadism
Sparse pubic hair
Azoospermia
Sparse axillary hair
Gynecomastia
Hypogonadotropic hypogonadism

Also known as: 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency