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
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
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
Toledo SPA, Luthold W, Mattar E: Familial idiopathic gonadotropin
deficiency: A hypothalamic form of hypogonadism. Am J Med Genet
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