Reproduction Function in Male Patients With Bardet Biedl Syndrome.

ABSTRACT:

Purpose

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: (i) genitourinary organogenesis, (ii) in fetal firing of hypothalamo-pituitary axe, (iii) sperm flagellum structure, and (iv) first zygotic mitosis conducted by proximal sperm centriole. BBS phenotype is not fully understood.

Methods

This study explored all steps of reproduction in 11 French male patients with identified BBS mutations.

Results

BBS patients frequently presented with genitourinary malformations, such as cryptorchidism (5/11), short scrotum (5/8),

SUBMITTER: Koscinski I 

PROVIDER: S-EPMC7538103 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature