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Two cases of the chromatin positive variety of ovarian dysgenesis (XO/XX mosaicism) associated with hGH deficiency and marginal impairment of other hypothalamic‐pituitary functions
Author(s) -
Faggiano M.,
Minozzi M.,
Lombardi G.,
Carella C.,
Criscuolo T.
Publication year - 1975
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1975.tb01510.x
Subject(s) - endocrinology , medicine , gonadal dysgenesis , arginine , insulin , biology , genetics , amino acid
Plasma hGH response to provocative tests (insulin‐induced hypoglycaemia and arginine infusion) appears normal in Turner's syndrome. Two cases are reported of the chromatin positive variety of ovarian dysgenesis (XO/XX mosaicism) with unusual absence of plasma hGH response to provocative tests (arginine infusion, insulin‐induced hypoglycaemia). Study of other pituitary functions supports the view that a hypothalamic‐pituitary impairment is present in these cases. In fact, in these cases we observed low values of gonadotrophin excretion and limited responses of plasma ACTH and plasma corticosteroids to provocative tests (insulin‐induced hypoglycaemia, metopyrone). Moreover, markedly abnormal plasma TSH response to TRF was observed in Case 2. The results are discussed with reference to the significance of this rare association.