Idiopathic Hypogonadotropic Hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (60% cases) and normosmic IHH (40% cases) and is due to gonadotropin-releasing hormone (GnRH) deficiency. Patients have inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IHH is typically diagnosed in adolescents presenting with absent or partial puberty. Male infants may present at birth with micropenis and/or cryptorchidism (Topaloğlu 2017 PMID:29280744).
The IHH panel contains 14 genes known to be involved in IHH: ANOS1, CHD7, FGF8, FGFR1, FSHB, GNRHR, IL17RD, KISS1R, LHB, PROK2, PROKR2, TAC3, TACR3 and WDR11.
NHSE test directory code: R148 Hypogonadotropic hypogonadism. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.
Page last updated: January 2020