Searchable abstracts of presentations at key conferences in endocrinology

ea0063p1071 | Pituitary and Neuroendocrinology 3 | ECE2019

A novel mutation in CHD 7 gene: hypogonadotropic hypogonadism without charge syndrome

Danda Vijay Sheker Reddy , Konda Chaithanya , Verupula Madhavi , Hyderabad Apsia Ruhi , Paidipally Srinivas Rao

Congenital isolated hypogonadotropic hypogonadism (CHH), is a condition characterized by a defect in development, migration and action of GnRH neurons. Numerous genes are involved in CHH. It can present with anosmia, hyposmia or normosmia. Two cases presented to our department with late onset delayed puberty. First case was a 29 year old with absence of secondary sexual characters along with micropenis and anosmia. His younger brother, 22 year old had similar complain...