Hypogonadotropic Hypogonadism Panel

The Hypogonadotropic Hypogonadism Panel analyzes genes that are associated with isolated gonadotropin-releasing hormone deficiency (IGD), Kallmann syndrome, and syndromes with hypogonadism as a presenting feature. These disorders result in low concentrations of gonadotropins (luteinizing and follicle-stimulating hormones) and hypogonadism. Some individuals with IGD have an impaired sense of smell; this combination of features is known as Kallmann syndrome. These genes were selected based on the available evidence to date to provide a broad analysis for inherited hypogonadotropic hypogonadism. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.