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Titolo:
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration
Autore:
Caron, P; Chauvin, S; Christin-Maitre, S; Bennet, A; Lahlou, N; Counis, R; Bouchard, P; Kottler, ML;
Indirizzi:
CHU Rangueil, Serv Endocrinol & Malad Metab, F-31403 Toulouse, France CHU Rangueil Toulouse France F-31403 lad Metab, F-31403 Toulouse, France Univ Paris 06, CNRS, URA 7080, F-75006 Paris, France Univ Paris 06 ParisFrance F-75006 CNRS, URA 7080, F-75006 Paris, France Hop St Antoine, Serv Endocrinol & Malad Reprod, F-75012 Paris, France Hop St Antoine Paris France F-75012 Malad Reprod, F-75012 Paris, France Hop St Vincent de Paul, INSERM, U342, F-75014 Paris, France Hop St Vincentde Paul Paris France F-75014 U342, F-75014 Paris, France Hop La Pitie Salpetriere, Serv Biochim Med, F-75013 Paris, France Hop La Pitie Salpetriere Paris France F-75013 Med, F-75013 Paris, France
Titolo Testata:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
fascicolo: 3, volume: 84, anno: 1999,
pagine: 990 - 996
SICI:
0021-972X(199903)84:3<990:ROHPWM>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
ADRENAL HYPOPLASIA CONGENITA; HORMONE-RECEPTOR; THYROTROPIN-RECEPTOR; OVARIAN FAILURE; MUTATIONS; MOLECULES; ADHESION; SEQUENCE; CLONING; MOUSE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Caron, P CHU Rangueil, Serv Endocrinol, 1 Ave J Poulhes, F-31403 Toulouse,France CHU Rangueil 1 Ave J Poulhes Toulouse France F-31403 use, France
Citazione:
P. Caron et al., "Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration", J CLIN END, 84(3), 1999, pp. 990-996

Abstract

We have studied a kindred with three siblings with isolated hypogonadotropic hypogonadism caused by compound heterozygote mutations in the GnRH receptor gene. The disorder was transmitted as an autosomal recessive trait. TheR262Q mutation in intracellular loop 3 of the receptor was associated witha mutation in the third transmembrane domain of the receptor, A129D, that has never been described before. This A129D mutation results in a complete loss of function, indicated by the lack of inositol triphosphate (TP3) 3 production by transfected Chinese hamster ovary (CHO) cells after GnRH stimulation. The two brothers had microphallus and bilateral cryptorchidism and were referred for lack of puberty, whereas their sister had primary amenorrhea and a complete lack of puberty. Their basal gonadotropin concentrations were below the reference range, and their endogenous LH secretory patterns were abnormal, with a low-normal frequency of small pulses or no apparent LII pulse. Pulsatile GnRH administration (10 mu g/pulse every 90 min for 40 h) resulted in increased mean LH without any significant changes in testosterone levels in the two brothers, whereas the LH secretory profile of theirsister remained apulsatile. Larger pulses of exogenous GnRH (20 mu g every90 min for 24 h) caused the sister to produce recognizable low amplitude LH pulses. The concentrations of free a-subunit significantly increased in all patients during the pulsatile GnRR administration. Thus, these hypogonadal patients are partially resistant to pulsatile GnRR administration, suggesting that they should be treated with gonadotropins to induce spermatogenesis or ovulation rather than with pulsatile GnRH.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 18:26:46