Reproduction Function in Male Patients with Bardet Biedl Syndrome.

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

https://www.ncbi.nlm.nih.gov/pubmed/32835378

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;: