A Novel Variant in NR5A1 Resulting in Normosmic Hypogonadotropic Hypogonadism With Short Stature

We report a case of a 16-year-old male with normosmic hypogonadotropic hypogonadism and short stature, harboring a homozygous variant in the NR5A1 gene. The patient presented at 16 years of age with poor height and weight gain for the last 8 years along with delayed puberty and absence of secondary sexual characteristics. On examination, he had severe short stature, unambiguous external genitalia, micropenis, and prepubertal sexual maturation. Investigations revealed inappropriately normal gonadotropins with low testosterone, while other hormonal assessments were normal, including age- and sex-matched IGF-1. Magnetic resonance imaging of the hypothalamic-pituitary axis along with the olfactory system was normal. Whole-exome sequencing revealed a homozygous variant in the NR5A1 gene. This case suggests that NR5A1 can be associated with isolated congenital hypogonadotropic hypogonadism.