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CONGENITAL 11β‐HYDROXYSTEROID DEHYDROGENASE DEFICIENCY ASSOCIATED WITH JUVENILE HYPERTENSION: CORTICOSTEROID METABOLITE PROFILES OF FOUR PATIENTS AND THEIR FAMILIES
Author(s) -
SHACKLETON C. H. L.,
RODRIGUEZ J.,
ARTEAGA E.,
LOPEZ J. M.,
WINTER J. S. D.
Publication year - 1985
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.1365-2265.1985.tb00160.x
Subject(s) - endocrinology , medicine , metabolite , aldosterone , excretion , urinary system , steroid , corticosteroid , chemistry , hormone
SUMMARY Four children with 11bT‐hydroxysteroid dehydrogenase deficiency are described. All patients had severe hypertension, hypokalaemia, and low plasma aldosterone and renin activities. Two of the patients were siblings and two were unrelated. The most noticeable biochemical feature of these individuals was the extremely low excretion of cortisol metabolites containing an 11‐carbonyl group compared to the excretion of the 11β‐hydroxyl containing metabolites. Although this condition is readily diagnosed in affected individuals by urinary steroid analysis, carriers of the defect do not differ from normal in their urinary steroids. Both parents of the affected siblings had normal 11‐oxo‐steroid/11bT‐hydroxysteroid ratios under baseline conditions and the lesions could not be revealed by ACTH administration.