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Titolo:
Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty
Autore:
Tanae, A; Katsumata, N; Sato, N; Horikawa, R; Tanaka, T;
Indirizzi:
Natl Childrens Med Res Ctr, Dept Endocrinol & Metab, Setagaya Ku, Tokyo 1548509, Japan Natl Childrens Med Res Ctr Tokyo Japan 1548509 Ku, Tokyo 1548509, Japan Natl Childrens Med Res Ctr, Dept Endocrinol & Metab, Tokyo 1548509, Japan Natl Childrens Med Res Ctr Tokyo Japan 1548509 tab, Tokyo 1548509, Japan
Titolo Testata:
ENDOCRINE JOURNAL
fascicolo: 5, volume: 47, anno: 2000,
pagine: 629 - 634
SICI:
0918-8959(200010)47:5<629:GAEEOT>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACUTE REGULATORY PROTEIN; STAR GENE; STEROIDOGENESIS; DNA;
Keywords:
congenital lipoid adrenal hyperplasia; steroidogenic acute regulatory protein; mutation; hypothalamic-pituitary-ovarian function;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
11
Recensione:
Indirizzi per estratti:
Indirizzo: Katsumata, N Natl Childrens Med Res Ctr, Dept Endocrinol & Metab, SetagayaKu, 3-35-31 Taishido, Tokyo 1548509, Japan Natl Childrens Med Res Ctr 3-35-31 Taishido Tokyo Japan 1548509
Citazione:
A. Tanae et al., "Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty", ENDOCR J, 47(5), 2000, pp. 629-634

Abstract

Congenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive disorder characterized by impaired synthesis of adrenal and gonadal steroids. It was demonstrated that loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) gene cause CLAH and that 46,XX patients with CLAH develop spontaneous puberty. We had reported that three 46,XX patientswith CLAH had presented spontaneous puberty and one of the patients had developed life-threatening ovarian cysts, before the etiology of CLAH had been clarified. In the present study, we analyzed their StAR gene and demonstrated mutations. Endocrinological examinations of the patients revealed thatserum LH and FSH levels and their responses to the LHRH stimulation were not exaggerated before the onset of puberty. Serum LH levels and its response to LHRH were increased during puberty, whereas serum FSH levels remained within the normal range. Serum estradiol increased after the administrationof human menopausal gonadotropins in the pubertal patient, suggesting thatthe ovary might have another system than StAR to facilitate cholesterol transport into the mitochondria. Although the patients had menstrual cycles, they remained anovulatory, and the resultant increased secretion of LH was speculated to be responsible for the development of ovarian cysts.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/08/20 alle ore 13:22:30