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Titolo:
Variable presentation of X-linked adrenal hypoplasia congenita
Autore:
Wiltshire, E; Couper, J; Rodda, C; Jameson, JL; Achermann, JC;
Indirizzi:
Univ Adelaide, Dept Paediat, Adelaide, SA 5006, Australia Univ Adelaide Adelaide SA Australia 5006 at, Adelaide, SA 5006, Australia Womens & Childrens Hosp, Dept Endocrinol, Adelaide, SA, Australia Womens &Childrens Hosp Adelaide SA Australia l, Adelaide, SA, Australia Monash Univ, Dept Paediat, Clayton, Vic 3168, Australia Monash Univ Clayton Vic Australia 3168 diat, Clayton, Vic 3168, Australia Monash Med Ctr, Clayton, Vic 3168, Australia Monash Med Ctr Clayton Vic Australia 3168 r, Clayton, Vic 3168, Australia Northwestern Univ, Sch Med, Div Endocrinol Metab & Mol Med, Chicago, IL USA Northwestern Univ Chicago IL USA crinol Metab & Mol Med, Chicago, IL USA
Titolo Testata:
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
fascicolo: 8, volume: 14, anno: 2001,
pagine: 1093 - 1096
SICI:
0334-018X(200109/10)14:8<1093:VPOXAH>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
DAX-1 GENE; MUTATIONS;
Keywords:
DAX1; adrenal insufficiency; adrenal hypoplasia congenita; mineralocorticoid;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
8
Recensione:
Indirizzi per estratti:
Indirizzo: Couper, J Univ Adelaide, Dept Paediat, 72 King William Rd, Adelaide, SA 5006, Australia Univ Adelaide 72 King William Rd Adelaide SA Australia 5006 alia
Citazione:
E. Wiltshire et al., "Variable presentation of X-linked adrenal hypoplasia congenita", J PED END M, 14(8), 2001, pp. 1093-1096

Abstract

We present a family with X-linked adrenal hypoplasia congenita (AHC) due to a truncation mutation in the DAX1 gene. The three patient reports demonstrate variable clinical and biochemical features at presentation. They presented with adrenal crises at 3 years, 4 weeks, and 3 weeks. Mineralocorticoid deficiency preceded glucocorticoid deficiency in patient 3 and an early ultrasound indicated normal sized adrenal tissue. Genetic analysis showed that potential female carriers were unaffected.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/05/18 alle ore 13:01:49