Isolated combined growth hormone and gonadotrophin deficiency due to hypothalamic dysfunction, associated with insulin resistance.
A 47-year-old woman was evaluated for congenital dwarfism, primary amenorrhoea due to hypogonadotrophic hypogonadism, severe hyperlipidaemia with pancreatitis, and overt diabetes mellitus associated with severe insulin resistance requiring 2.5-3 units of insulin per kilogram body weight. Chromosomal analysis with trypsin banding was normal and biochemical evaluation revealed low oestrogen levels, inappropriately low gonadotrophins, very low IGF-I concentrations and GH concentrations unresponsive to insulin or L-dopa administration. Prolactin, pituitary-adrenal and pituitary-thyroid axes were normal. Dynamic testing with GnRH and GHRH produced increases in FSH, LH and GH concentrations. A MRI of the brain revealed no discernible hypothalamic abnormalities and a small pituitary. The presence of congenital combined growth hormone and gonadotrophin deficiency on the basis of a suprapituitary defect suggests the existence of common or related pathways regulating GnRH and GHRH synthesis or secretion and may have contributed to the ultimate development of insulin resistance and hyperlipidaemia.
Mantzoros
C S
CS
Division of Endocrinology, Beth Israel Hospital, Boston, MA, USA.
Moses
A C
AC
D000328:Adult; D048909:Diabetes Complications; D005260:Female; D006065:Gonadotropins, Pituitary / Q000172:deficiency*; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D015228:Hypertriglyceridemia / Q000150:complications; D007006:Hypogonadism / Q000150:complications; D007027:Hypothalamic Diseases / Q000150:complications / Q000378:metabolism*; D007333:Insulin Resistance
D006065:Gonadotropins, Pituitary; D013006:Growth Hormone