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URINARY PREGNANEDIOL AND PREGNANETRIOL IN THE SALT‐LOSING AND NONSALT‐LOSING FORMS OF C‐21‐HYDROXYLASE DEFICIENCY
Author(s) -
HAMILTON WILLIAM,
GRAY CHRISTINA E.
Publication year - 1972
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.1972.tb00398.x
Subject(s) - pregnanediol , endocrinology , medicine , metyrapone , urinary system , urine , chemistry , biology
SUMMARY Six patients with congenital adrenal hyperplasia due to 21‐hydroxylase defect were investigated by administering both metyrapone and corticotrophin during an acute 3 day test. Urinary pregnanediol and pregnanetriol were estimated in the third day urine. Three patients had salt‐loss while three were without salt‐loss. Pregnanediol and pregnanetriol were detected in all cases suggesting that 21‐hydroxylation of progesterone (P) and 17α‐hydroxyprogesterone (17P) is defective in both types. Contrary to the view that salt‐loss is due to a complete enzyme defect while nonsalt‐loss is due to partial enzyme defect, more pregnanediol and pregnanetriol was excreted by nonsalt‐losers than by salt‐losers. This suggests that the basic difference in the two types is not simply a quantitative enzyme defect. The findings, supported by quoted work of other authors, suggest either that metabolic pathways in this condition may be different from the accepted normal or alternatively there is a difference in the availability of precursor substrate in the two clinical types.