P-071 A CASE OF NORMOSMIC IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM WITH A KISS1R MUTATION PRESENTING WITH PARTIAL EMPTY SELLA
Abstract
Abstract Introduction Idiopathic hypogonadotropic hypogonadism (IHH) is a rare genetic disorder caused by defective hypothalamic GnRH secretion or impared GnRH action on pituitary gonadotropins. It is classified into two groups: Kallmann syndrome (KS) and normosmic IHH (NIHH). However, this condition occurs in less than 30% of patients with IHH. The incidence of IHH is 1–10 per 100,000 live births, with nearly two-thirds of cases due to KS. Gene mutations have been identified in only 2-16% of patients with normosmic IHH. Mutations in the KISS1R (GPR54) gene occur in
Fields of Study & Subjects
Hypothalamic control of reproductive hormones
Pituitary Gland Disorders and Treatments
Growth Hormone and Insulin-like Growth Factors
Publication details
- Journal / source
- JCEM Case Reports
- Volume
- 4
- Issue
- Supplement_1
- Publication date
- 1 January 2026
- Language
- EN