Open access
Aug 2026
EP1318 - ECE_1139 - Two siblings with normosmic hypogonadotrophic hypogonadism caused by an FGFR-1 gene variant
Two adolescent brothers with normosmic hypogonadotropic hypogonadotropic hypogonadism and delayed puberty are described, emphasizing the diagnostic value of identifying an FGFR1 variant in the absence of olfactory or structural abnormalities.
Beenish Zaki, S. Hyer
· European Journal of Endocrin... · 0 citations