Reproduction Function in Male Patients with Bardet Biedl Syndrome.
Fiche publication
Date publication
août 2020
Journal
The Journal of clinical endocrinology and metabolism
Auteurs
Membres identifiés du Cancéropôle Est :
Dr KOSCINSKI Isabelle, Mme MESSADDEQ Nadia , Dr MARK Manuel
Tous les auteurs :
Koscinski I, Mark M, Messaddeq N, Braun JJ, Celebi C, Muller J, Zinnetti-Bertschy A, Goetz N, Dollfus H, Rossignol S
Lien Pubmed
Résumé
Bardet-Biedl syndrome (BBS) is a ciliopathy with a wide spectrum of symptoms due to primary cilia dysfunction including genitourinary developmental anomalies as well as impaired reproduction particularly in males. Primary cilia are known to be required at the following steps of reproduction function: (1) genitourinary organogenesis, (2) in the fetal firing of hypothalamo-pituitary axe, (3) sperm flagellum structure and (4) the first zygotic mitosis conducted by proximal sperm centriole. BBS phenotype is not fully understood.
Référence
J. Clin. Endocrinol. Metab.. 2020 Aug 25;: