ea0029p1304 | Paediatric endocrinology | ICEECE2012
Mukai T.
, Inoue H.
, Ito Y.
, Itakura M.
, Fujieda K.
Background: Mutations in POU1F1/PIT1 gene, a pituitary-specific transcription factor, affect the development and function of the anterior pituitary and lead to combined pituitary hormone deficiency (CPHD).Objective: The clinical and genetic analysis of the twin patients presenting with mild form of CPHD and functional characterization of identified mutation.Cases: Five-year-old identical twin brothers were referred to determine the...