Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.

ABSTRACT: Congenital hypogonadotropic hypogonadism (cHH)/Kallmann syndrome (KS) is a rare genetic disorder with variable penetrance and a complex inheritance pattern. Consequently, it does not always follow Mendelian laws. More recently, digenic and oligogenic transmission has been recognized in 1.5-15% of cases. We report the results of a clinical and genetic investigation of five unrelated patients with cHH/KS analyzed using a customized gene panel. Patients were diagnosed according to the clinical, hormonal, and radiological criteria of the European Consensus Statement. DNA was analyzed using next-generation sequencing with a customized panel that included 31 genes. When available, first-degree relatives of the probands were also analyzed to assess genotype-phenotype segregation. The consequences

SUBMITTER: Cannarella R 

PROVIDER: S-EPMC10138801 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature