ESPE Abstracts

Introduction: The Sonic hedgehog (SHH) signaling pathway plays a crucial role in development of the forebrain and pituitary. Mutations in SHH signaling related genes are well known to be the cause of Holoprosencephaly (HPE), which results from developmental field defect or impaired midline cleavage of the embryonic forebrain, and is frequently associated with hypopituitarism. This study aimed to define the prevalence of congenital hypopituitarism (CH) in terms...

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...

Background: GLI2 is a transcription factor in Sonic Hedgehog signaling and implicated in ventral forebrain and pituitary development. GLI2 mutations were reported not only in patients with holoprosencephaly but also in patients with pituitary hormone deficiencies without holoprosencephaly. Other phenotypes of GLI2 mutations are midline facial defects, cleft hands and feet, and polydactyly. We report two patients with combined pituitary hormone defici...