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CONGENITAL ADRENAL HYPERPLASIA DUE TO DEFICIENT CHOLESTEROL SIDE‐CHAIN CLEAVAGE ACTIVITY (20, 22‐DESMOLASE) IN A PATIENT TREATED FOR 18 YEARS
Author(s) -
HAUFFA B. P.,
MILLER W. L.,
GRUMBACH M. M.,
CONTE F. A.,
KAPLAN SELNA L.
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.tb01107.x
Subject(s) - endocrinology , medicine , aldosterone , metyrapone , corticosterone , adrenarche , cholesterol side chain cleavage enzyme , pregnanediol , pregnenolone , mineralocorticoid , cholesterol , excretion , aminoglutethimide , plasma renin activity , steroid , renin–angiotensin system , hormone , blood pressure , cytochrome p450 , metabolism , cancer , breast cancer , aromatase
SUMMARY Two siblings, a 9‐week‐old female and an 18‐year‐old male pseudohermaphrodite are described with deficient cholesterol side‐chain cleavage activity. The female died untreated in 1954; the second sibling, a phenotypically female infant with 46 XY karyotype, was diagnosed at age 5 weeks. Massive adrenal hyperplasia was revealed by intravenous pyelography showing downward displacement of the kidneys. Secretion rates of cortisol, aldosterone, deoxycor‐ticosterone and corticosterone were unmeasurable. Urinary 17‐hydroxycorti‐costeroids (17‐OHCS), tetrahydrocortisol, 17‐ketosteroids (17‐KS), pregnanetriol, pregnanediol, and Δ 5 ‐3β‐ol steroids were not detected during prolonged administration of ACTH. Plasma concentrations and urinary excretion of gonadotrophins were increased. Gonadal mitochondria did not convert radioloabelled cholesterol to pregnenolone. The gluccocorticoid and mineralo‐corticoid deficiencies have been controlled well by steroid replacement therapy. Plasma ACTH concentrations and plasma renin activity remained strikingly elevated even when supraphysiologic doses of glucocorticoids and mineralocor‐ticoids were given. Oestrogen replacement alone induced a pubertal growth spurt. The differential diagnosis, the effects of long‐term steroid replacement therapy, and comparison with previously reported findings are discussed.