Inv(10) in a patient with hypogonadotropic hypogonadism

Hypogonadotropic hypogonadism (HH) was diagnosed in a 22-year-old pa- tient with 46,XY,inv(10) karyotype. It may be associated with some gene mutations of chromosome X, (KAL-1: Kallman syndrome; and DAX-1: congenital adrenal hypoplasia), as well as of certain autosomes, including chromosome 10. This study aimed to: (1) elucidate the aetiopathogenesis of the disease in the studied case: (2) diag- nose chromosome aberrations as accurately as possible: and (3) determine if the ob- served clinical picture can be referred to the diagnosed chromosomal aberration or it is a mere coincidence. The FISH technique, with the use of non-commercial DNA probes, was applied for a precise description of chromosome breaking points. The application of FISH enabled karyotype description: 46,XY, inv(10)(p15.2q11.22).ish inv(10)(p15.2q21.3)(p15×3)(q21×3)(p15conq21×2). The SSCP method revealed no mutation within the DAX-1 gene and no deletion in the KAL-1 gene. The genetic and molecular basis of most cases of hypogonadotropic hypogonadism (HH) remains unrecognised. However, in about 5-10 % of pa- tients, single mutations have been identified for certain hypothalamic and pitu- itary genes, including mutations inKAL (Xp23.3) andDAX (Xp21) genes. In cases of Kallman syndrome (KS) and congenital adrenal hypoplasia (CAH), a possible existence of several autosomal loci is suggested, both with recessive and domi- nant inheritance. The mutations, occurring in genes encoding gonadotro- pin-releasing hormone GnRH (8p21-8p11.2), GnRH receptor (4q21.2), leptin (7q31.3), and leptin receptor (1p31), induce the autosomally recessive HH syn-