hrp0092p2-221 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Case of Congenital Hypopituitarism Due to Mutation POU1F1 in 3 Azerbaijani Newborn Boys

Arestova Anzhelika , Skorodok Yulia , Ioffe Irina , Kazachenko Natalia , Turkunova Maria , Ivanov Dmitry , Vorozhko Oksana , Filatova Natalia

Background: Growth hormone deficiency in conjunction with the function loss of other anterior pituitary hormones is called combined pituitary hormone deficiency (CPHD). The most common congenital CPHD is caused by mutations in genes: PROP1, POU1F1, HESX1, LHX3, LHX4, OTX2, GLI2, and SOX3. POU1F1 mutations are extremely rare among the Indo-European ethnic type (1% of all cases of congenital hypopituitarism) and more common among the Turkic peoples (7.3%...