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Reproduction function in male patients with Bardet Biedl syndrome

Journal of Clinical Endocrinology and Metabolism Aug 27, 2020

Koscinski I, Mark M, Messaddeq N, et al. - Because primary cilia are known to be needed at the following steps of reproduction function: genitourinary organogenesis, in the fetal firing of hypothalamo-pituitary axe, sperm flagellum structure and the first zygotic mitosis conducted by proximal sperm centriole, researchers sought to investigate all steps of reproduction in 11 French male patients with identified Bardet-Biedl syndrome (BBS) mutations. Patients with BBS have often encountered genitourinary malformations such as cryptorchidism (5/11), short scrotum (5/8), micropenis (5/8) but surprisingly, normal testis size (7/8). PC dysfunction in BBS affects male genital tract embryology, particularly epididymis, penis and scrotum through an insufficient fetal androgen production. Sperm structure, however, does not seem to be affected in adults. Such outcomes should be confirmed in a greater BBS patient cohort, concentrating on fertility.

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