hrp0084p1-120 | Puberty | ESPE2015

A Novel LHX4 Mutation is Associated with Hypogonadotropic Hypogonadism, Not Combined Pituitary Hormone Deficiency

Takagi Masaki , Daitsu Takashi , Numakura Chikahiko , Sato Takeshi , Narumi Satoshi , Hasegawa Tomonobu

Background: Mutations in HESX1, SOX3 responsible for combined pituitary hormone deficiency (CPHD) have been identified in a small number of hypogonadotropic hypogonadism (HH), suggesting that the genetic overlap between CPHD and HH.Case presentation: A 2-month-old boy was referred because of micropenis (stretched penile length 1.0 cm) with intrascrotal testes (1 ml). Hormone assays revealed very-low plasma testosterone levels (0.06 ng/m...