hrp0084p2-513 | Pituitary | ESPE2015

A Novel Mutation within the AVP Gene in an 18-Year-Old Male Patient with Kallmann Syndrome and Combined Pituitary Hormone Deficiency

Choi Won Bok , Kim Soo Young , Yoon Lira , Kim Young Mi , Cho Min-Jung , Ki Chang-Seok , Cho Sung Yoon , Jin Dong-Kyu , Kwak Min Jung

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...