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FAMILIAL CONGENITAL CUSHING'S SYNDROME DUE TO BILATERAL NODULAR ADRENAL HYPERPLASIA
Author(s) -
DONALDSON M. D. C.,
GRANT D. B.,
O'HARE M. J.,
SHACKLETON C. H. L.
Publication year - 1981
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.1365-2265.1981.tb00641.x
Subject(s) - endocrinology , medicine , adrenalectomy , hyperplasia , cushing syndrome , congenital adrenal hyperplasia , dexamethasone , hormone , steroid hormone
SUMMARY Two siblings with congenital Cushing's syndrome due to bilateral nodular adrenal hyperplasia are described. The older, a boy, presented with severe hypertension and died soon after subtotal adrenalectomy. His sister, who had clitoral enlargement and showed persistent hyponatraemia, had a two‐stage total adrenalectomy and is still alive. Investigations in the second case showed grossly elevated urinary cortisol metabolites, 17‐oxosteroids and 3β‐hydroxy‐5‐ene‐steroids. These were not suppressed by dexamethasone, and plasma ACTH was undetectable, indicating that the disorder was not due to excessive ACTH secretion. Cell culture studies on the resected adrenals failed to demonstrate an abnormal pattern of steroid synthesis in vitro , and normal trophic responses were obtained with 1–24 ACTH and monobutyryl cyclic AMP. No stimulation of steroid synthesis was obtained with a range of polypeptide hormones, and the cause of the adrenal hyperplasia remains unknown.