Hypogonadotropic hypogonadism is caused by impaired function of the hypothalamic-pituitary-gonadal axis, resulting from abnormalities affecting gonadotropin-releasing hormone secretion or action, or impaired production or action of the pituitary gonadotropins LH and FSH. Clinical manifestations may include absent or incomplete puberty, infertility, and reduced sex hormone production. Some forms are associated with anosmia or hyposmia, whereas others are normosmic.

This panel includes genes associated with isolated and syndromic forms of hypogonadotropic hypogonadism, including Kallmann syndrome, congenital GnRH deficiency, gonadotropin deficiencies, selected forms of multiple pituitary hormone deficiency, and related reproductive disorders.

This panel is recommended for patients with delayed or absent puberty accompanied by biochemical evidence of hypogonadotropic hypogonadism, with or without anosmia, as well as for patients with clinical findings suggestive of an inherited hypothalamic or pituitary reproductive disorder.