hrp0084p1-120 | Puberty | ESPE2015
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...