hrp0094p2-363 | Pituitary, neuroendocrinology and puberty | ESPE2021

Pedigree analysis is essential for clarifying oligogenic transmission in a family with congenital hypogonadotropic hypogonadism (CHH)

Oberhauser Sarah , Papadakis G Georgios , Pitteloud Nelly , L’Allemand Dagmar ,

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease with a complex clinical picture and genetic background. In up to 50% genetic mutations are found. The goal is to be able to provide a comprehensive prognosis and genetic counseling for this family with CHH.Case presentation: At the age of 16 years a boy with familial constitutional delay (adrenarche only with 15 years, no growth spurt, bone age 14 years) present...