hrp0097p2-24 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Familial growth hormone deficiency associated with a PROKR2 gene variant

El Hattab Ayman , Ehtisham Sarah

A 16 year old boy initially presented with short stature at age 6, with height <0.4th centile (HSDS -2.78). Bone age was 1.9 years delayed, and growth hormone deficiency was diagnosed after 2 stimulation tests. The rest of his pituitary function was normal. He never had pituitary imaging. Growth hormone treatment was started, and he had an excellent growth response with HSDS improving to -1.57 by 10 years. The growth hormone treatment was discontinued when the family reloca...