Resistance to multiple steroids in two sisters.
A 14-year-old Native American girl from the Iroquois Nation was referred as a potential patient with the syndrome of Apparent Mineralocorticoid Excess. Instead, her evaluation revealed resistance to glucocorticoids, mineralocorticoids, and androgens. She lacked Cushingoid features in spite of significantly high cortisol levels. Menstruation was regular and there was no clinical evidence of masculinization despite high serum androgen levels in the male range. The patient's sister had similar clinical features. Partial resistance to exogenous glucocorticoid and mineralocorticoid administration was well demonstrated in both patients. It is proposed that these patients represent the first cases of partial resistance to multiple steroids, possibly owing to a coactivator defect.
New
M I
MI
Department of Pediatrics, Division of Pediatric Endocrinology, The New York Presbyterian Hospital-Weill Medical College of Cornell University, 525 East 68th Street, Room M-622, New York, NY, USA. minew@med.cornell.edu
Nimkarn
S
S
Brandon
D D
DD
Cunningham-Rundles
S
S
Wilson
R C
RC
Newfield
R S
RS
Vandermeulen
J
J
Barron
N
N
Russo
C
C
Loriaux
D L
DL
O'Malley
B
B
D000293:Adolescent; D000311:Adrenal Glands / Q000000981:diagnostic imaging / Q000473:pathology; D000728:Androgens / Q000097:blood*; D002648:Child; D005260:Female; D005938:Glucocorticoids / Q000097:blood*; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D008297:Male; D008901:Mineralocorticoids / Q000097:blood*; D010375:Pedigree; D011859:Radiography
D000728:Androgens; D005938:Glucocorticoids; D008901:Mineralocorticoids; D006854:Hydrocortisone