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Titolo:
Disorders linked to insufficient androgen action in male children
Autore:
Sultan, C; Paris, F; Terouanne, B; Balaguer, P; Georget, V; Poujol, N; Jeandel, C; Lumbroso, S; Nicolas, JC;
Indirizzi:
Hop A De Villeneuve, Serv Pediat 1, Unite Endocrinol & Gynecol Pediat, F-34295 Montpellier 5, France Hop A De Villeneuve Montpellier France 5 , F-34295 Montpellier 5, France CHU Montpellier, Hop Lapeyronie, INSERM, U439, Montpellier, France CHU Montpellier Montpellier France e, INSERM, U439, Montpellier, France
Titolo Testata:
HUMAN REPRODUCTION UPDATE
fascicolo: 3, volume: 7, anno: 2001,
pagine: 314 - 322
SICI:
1355-4786(200105/06)7:3<314:DLTIAA>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
GREEN FLUORESCENT PROTEIN; REPORTER CELL-LINES; RECEPTOR GENE; STEROID 5-ALPHA-REDUCTASE; NUCLEAR RECEPTOR; TRAFFICKING; DEFICIENCY; MUTATIONS; DEFECTS;
Keywords:
androgens; cryptorchidism; endocrine disruptors; hypospadias; sexual differentiation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Sultan, C Hop A De Villeneuve, Serv Pediat 1, Unite Endocrinol & Gynecol Pediat, F-34295 Montpellier 5, France Hop A De Villeneuve Montpellier France 5 Montpellier 5, France
Citazione:
C. Sultan et al., "Disorders linked to insufficient androgen action in male children", HUM REP UPD, 7(3), 2001, pp. 314-322

Abstract

Virilization of the external genitalia in the male fetus requires testosterone and dihydrotestosterone (DHT), which is formed from testosterone by the action of the enzyme, 5 alpha -reductase type 2 (5 alphaR-2), Mediation of the effects of both testosterone and DHT requires a functional androgen receptor (AR) located in the cytoplasmic compartment of target Cells. DHT (or testosterone) binding induces a conformational change which facilitates AR nuclear transport, phosphorylation and dimerization, ultimately regulating of the rate of transcription of androgen-dependent genes. Any event whichimpairs DHT formation (mutation within the 5aR-2 gene or 5aR-2 inhibitors)or normal function of the AR::(mutation in the AR gene, antiandrogens) mayresult in insufficient androgen action in the male fetus and in Subsequentundervirilization in the newborn. Hypospadias may be due to a defect in androgen action due to mutation of the 5aR-2 or of the AR gene, Mutation of unidentified genes is likely to underlie this displacement of the urethral meatus-from the tip to the ventral side of the phallus. An aetiological rolefor environmental chemical products has been postulated, since ethnic as well as geographical differences in the incidence of hypospadias have been noted. Increasing evidence has been gathered indicating that widely used industrial and agricultural chemicals have deleterious effects on normal male sexual differentiation. Cryptorchidism and micropenis may represent an intersex phenotype, even if they are isolated, Aetiological factors include 5aR-2 gene mutation, AR gene mutation or environmental hormonal disrupters. Inconclusion, several phenotypes have been attributed to insufficient androgen action during fetal life. Whereas mutations in the 5aR-2 gene and AR gene are natural, attention should be focused on environmental endocrine disrupters that are able to mimic steroid 5a-reductase deficiency or partial androgen insensitivity syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 15:24:59