[en] The LHB subunit gene is located at chromosome 19q13.32. Five mutations have been published up to now. The syndrome of preserved spermatogenesis with androgenic failure (now known to be due to LH deficiency) was described for the first time by Pasqualini and Bur in 1950. The term “fertile eunuch” was then coined (but somehow incorrectly) to describe these men that are usually infertile.
In affected men, sexual differentiation was normal, but the absence of or significantly reduced LH secretion restrained the induction of puberty and altered Leydig cells. These males have impaired spermatogenesis, ranging froma zoospermia to oligospermia,which has been associated to the lack of LH stimulation and low intratesticular testosterone action. In 2004, we described a man with a homozygous missense mutation (G36D) in the LHB subunit gene that abrogated subunit dimerization and rendered LH biologically and immunologically inactive (31). Treatment with human chorionic gonadotropin (hCG) induced near normalization of testicular structure. The patient and his wife conceived a child by intracytoplasmic sperm injection from ejaculated sperm. The male heterozygous child had normal LH, FSH, and testosterone levels, at the age of 4weeks.
In women, LHB mutations lead to a normal pubertal development but they can have primary amenorrhea and micropolycystic ovaries
