Resistance to several steroids in two sisters.
A 14-yr-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, but no resistance to vitamin D or thyroid hormones. She lacked Cushingoid features despite 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 due to a coactivator defect.
New
M I
MI
Department of Pediatrics, New York-Presbyterian Hospital, New York Weill Cornell Center, 10021, USA. minew@mail.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 / Q000503:physiopathology; D000324:Adrenocorticotropic Hormone; D000728:Androgens / Q000097:blood / Q000494:pharmacology*; D002648:Child; D003346:Corticotropin-Releasing Hormone; D003907:Dexamethasone; D004351:Drug Resistance; D005260:Female; D005938:Glucocorticoids / Q000494:pharmacology*; D007987:Gonadotropin-Releasing Hormone; D006801:Humans; D007030:Hypothalamo-Hypophyseal System; D007198:Indians, North American; D008901:Mineralocorticoids / Q000494:pharmacology*; D010053:Ovary / Q000503:physiopathology; D010375:Pedigree; D014157:Transcription Factors
D000728:Androgens; D005938:Glucocorticoids; D008901:Mineralocorticoids; D014157:Transcription Factors; D007987:Gonadotropin-Releasing Hormone; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D003346:Corticotropin-Releasing Hormone