Familial Hypogonadotrophic Eunuchoidism

At a glance

Genetically transmitted pituitary gonadotropin deficiency with hypothalamic-pituitary-prolactin dysfunction, absence of secondary sex characteristics, and long limbs.

Synonym

Familial Idiopathic Gonadotropin Deficiency (FIGD) Syndrome.

Genetic inheritance

This medical condition is believed to be most often an autosomal recessive transmission. However, autosomal dominant and X-linked (rare) transmissions have been reported. Most cases are sporadic and thus could be the result of new mutations.

Pathophysiology

Hypothalamic deficiency of gonadotropin-releasing hormone (GnRH) is responsible for decreased pituitary gonadotropin secretion. Associated hypothalamic-pituitary-prolactin dysfunction may be present. Hypogonadotropic hypogonadism occurs as a consequence of these hormonal deficiencies.

Diagnosis and clinical aspects

Diagnosis is suggested by familial history, clinical features such as delayed puberty (menarche after age 15 years age in females, onset of pubic hair development after age 16 years in males), relatively long limbs, and need for hormonal treatment for appearance of secondary sexual characteristics. Serum hormonal levels are in the hypogonadal range: estradiol less than 20 pg/mL in women, testosterone less than 100 ng/dL in men, follicle-stimulating hormone and luteinizing hormone levels decreased with absence of normal adult pattern of pulsatile gonadotrophin secretion during a baseline evaluation of serum gonadotrophins with frequent (every 20 minutes) blood sampling. Testing of anterior pituitary hormone secretion during insulin tolerance and thyroid-stimulating hormone-releasing factor stimulation testing are within normal limits. No anomalies are seen on radiologic imaging of the hypothalamic and pituitary areas. Treatment consists of administration of synthetic luteinizing hormone-releasing hormone (GnRH).

Precautions before anesthesia

No specific precautions before anesthesia.

Anesthetic considerations

Other than the usual anesthetic considerations and preoperative evaluation for anesthesia, no known specific complications with this medical condition are reported in the literature.

Pharmacological implications

No pharmacological impli-­cations.

Other conditions to be considered

• ☞Kallmann Syndrome: Congenital syndrome characterized by the association of hypogonadotropic hypogonadism combined to anosmia (or hyposmia).

• ☞Klinefelter Syndrome: Chromosomal disorder consisting of supernumerary X chromosome(s) in male subjects associated with infertility and hypogonadism.

References