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

Familial Idiopathic Gonadotropin Deficiency (FIGD).

Mostly autosomal recessive, although autosomal dominant and X-linked (rare) transmissions have been reported. Most cases are sporadic and thus could represent new mutations.

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 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).

No specific precautions before anesthesia.

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

No pharmacological implications.

Kallmann Syndrome: Congenital syndrome characterized by the association of hypogonadotropic hypogonadism with anosmia (or hyposmia).

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

Toledo SPA, Luthold W, Mattar E: Familial idiopathic gonadotropin deficiency: A hypothalamic form of hypogonadism. Am J Med Genet 15:405, 1983.  [PubMed: 6410916]
Waldstreicher J, Seminara SB, Jameson JL, et al: The genetic and clinical heterogeneity of gonadotrophin-releasing hormone deficiency in the human. J Clin Endocrinol Metab 81:4388, 1996.  [PubMed: 8954047]

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