Resistance to several steroids in two sisters

Citation
Mi. New et al., Resistance to several steroids in two sisters, J CLIN END, 84(12), 1999, pp. 4454-4464
Citations number
56
Categorie Soggetti
Endocrynology, Metabolism & Nutrition","Endocrinology, Nutrition & Metabolism
Journal title
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
ISSN journal
0021972X → ACNP
Volume
84
Issue
12
Year of publication
1999
Pages
4454 - 4464
Database
ISI
SICI code
0021-972X(199912)84:12<4454:RTSSIT>2.0.ZU;2-V
Abstract
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, mineralocor ticoids, and androgens, but no resistance to vitamin D or thyroid hormones. She lacked Cushin-goid features despite significantly high cortisol levels . Menstruation was regular, and there was no clinical evidence of masculini zation despite high serum androgen levels in the male range. The patient's sister had similar clinical features. Partial resistance to exogenous gluco corticoid and mineralocorticoid administration was well demonstrated in bot h patients. It is proposed that these patients represent the first cases of partial resistance to multiple steroids, possibly due to a coactivator def ect.