Hypergonadotropic Hypogonadism

Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism, is a condition which is characterized by hypogonadism due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production and elevated gonadotropin levels (as an attempt of compensation by the body). HH may present as either congenital or acquired, but the majority of cases are of the former nature.

Symptoms and signs

Examples of symptoms of hypogonadism include delayed, reduced, or absent puberty, low libido, and infertility.

Causes

There are a multitude of different etiologies of HH. Congenital causes include the following:

• Chromosomal abnormalities (resulting in gonadal dysgenesis) - Turner's syndrome, Klinefelter's syndrome, Swyer's syndrome, XX gonadal dysgenesis, and mosaicism.
• Gonadotropin resistance (e.g., due to inactivating mutations in the gonadotropin receptors) - Leydig cell hypoplasia (or insensitivity to LH) in males, FSH insensitivity in females, and LH and FSH resistance due to mutations in the GNAS gene (termed pseudohypoparathyroidism type 1A).

Acquired causes (due to damage to or dysfunction of the gonads) include ovarian torsion, vanishing/anorchia, orchitis, premature ovarian failure, ovarian resistance syndrome, trauma, surgery, autoimmunity, chemotherapy, radiation, infections (e.g., sexually-transmitted diseases), toxins (e.g., endocrine disruptors), and drugs (e.g., antiandrogens, opioids, alcohol).

Diagnosis

Diagnosis is typically made by measuring both gonadal and gonadotropin levels using a blood sample.

Treatment

Treatment of HH is usually with hormone replacement therapy, consisting of androgen and estrogen administration in males and females, respectively.

See also

• Hypogonadism
• Hypogonadotropic hypogonadism
• Hypergonadotropic hypergonadism
• Delayed puberty and infertility
• Hypothalamus, pituitary gland, and HPG axis
• Gonads (testicles and ovaries)
• GnRH and gonadotropins (FSH and LH)
• Sex hormones (androgens and estrogens)