Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.

Détails

ID Serval
serval:BIB_8D99B5418672
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.
Périodique
Molecular and Cellular Endocrinology
Auteur(s)
Pallais J.C., Bo-Abbas Y., Pitteloud N., Crowley W.F., Seminara S.B.
ISSN
0303-7207 (Print)
ISSN-L
0303-7207
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
254-255
Pages
70-77
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
The G protein coupled receptor, GPR54, is a key regulator of puberty and reproductive function. Despite its prismatic role, few patients with mutations in GPR54 and the phenotype of hypogonadotropic hypogonadism have been described. This report explores the neuroendocrine, gonadal, placental and obstetric phenotypes of patients with idiopathic hypogonadotropic hypogonadism (IHH) carrying missense (L148S), nonsense (R331X), and nonstop (X399R) mutations in GPR54. A male patient harboring the mutations R331X and X399R demonstrated (1) increased sensitivity to exogenous pulsatile GnRH compared to a cohort of IHH patients undergoing similar therapy and (2) steady increases in testicular volume, spermatogenesis, and fertility while on long-term GnRH therapy. A female patient homozygous for the L148S mutation had (1) intact responses to exogenous GnRH and gonadotropins, (2) multiple conceptions, (3) two uncomplicated pregnancies of healthy children, suggesting grossly intact placental function, (4) spontaneous initiation of uterine contractions, and (5) lactation for several months post-partum. Taken together, these observations help to tease apart the neuroendocrine and gonadal phenotypes of patients bearing mutations in GPR54.
Mots-clé
Adult, Female, Follicle Stimulating Hormone/blood, Gonadotropin-Releasing Hormone/blood, Gonadotropin-Releasing Hormone/therapeutic use, Gonads/anatomy & histology, Humans, Hypogonadism/drug therapy, Hypogonadism/genetics, Luteinizing Hormone/blood, Male, Mutation, Neurosecretory Systems/anatomy & histology, Pedigree, Phenotype, Placenta/anatomy & histology, Pregnancy, Protein Subunits/blood, Receptors, G-Protein-Coupled/genetics, Sexual Maturation/genetics
Pubmed
Création de la notice
03/12/2014 16:38
Dernière modification de la notice
03/03/2018 19:16
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