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Titolo:
GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME
Autore:
KRISTIANSSON B; STIBLER H; WIDE L;
Indirizzi:
UNIV GOTHENBURG,DEPT PAEDIAT GOTHENBURG SWEDEN KAROLINSKA HOSP,DEPT NEUROL S-10401 STOCKHOLM SWEDEN AKAD HOSP UPPSALA,DEPT CLIN CHEM UPPSALA SWEDEN
Titolo Testata:
Acta paediatrica
fascicolo: 6, volume: 84, anno: 1995,
pagine: 655 - 659
SICI:
0803-5253(1995)84:6<655:GAGHIT>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
FOLLICLE-STIMULATING-HORMONE; CHARGE HETEROGENEITY; HUMAN-SERUM; ERYTHROPOIETIN; GALACTOSEMIA; VARIANT; FORMS;
Keywords:
CDG (CARBOHYDRATE-DEFICIENT GLYCOPROTEIN) SYNDROME; GLYCOPROTEIN HORMONES; GONADS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
B. Kristiansson et al., "GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME", Acta paediatrica, 84(6), 1995, pp. 655-659

Abstract

Six females and six males with carbohydrate-deficient glycoprotein (CDG) syndrome type I, aged 4 months to 43 years, were examined for gonadal function and electrophoretic isoform patterns of four glycoproteinhormones: FSH, LH, TSH and erythropoietin. The female patients had a hypergonadotrophic hypogonadism from an early age without detectable ovaries in three cases. In the males, testosterone levels tended to be low with normal or slightly raised gonadotrophin values. None of the four glycoprotein hormone showed any signs of carbohydrate deficiency of the same type as in many liver-synthesized circulating glycoproteins. It is concluded that females with CDG syndrome type I have primary ovarian failure, and that the syndrome does not affect the terminal charged carbohydrate portion in gonadotrophins, TSH or erythropoietin. The characteristic carbohydrate deficiency in some circulating glycoproteins is thus not a generalized feature in this disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/10/20 alle ore 11:44:10