De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency.

Background/aims: Missense, nonsense, and splice mutations in the Fibroblast Growth Factor 8(FGF8) have recently been identified in patients with hypothalamo-pituitary dysfunction and craniofacial anomalies. Here, we report a male patient with a frameshift mutation in FGF8.

Case Report: The patient exhibited micropenis, craniofacial anomalies, and ventricular septal defect at birth.