hrp0094p2-363 | Pituitary, neuroendocrinology and puberty | ESPE2021
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...