Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty

ConclusionThis case of severe 46,XY DSD raises the question of the role played by 8p23 microdeletion in gonadal dysgenesis. Clinicians are encouraged to look for this anomaly on chromosome 8 in cases of unexplained gonadal dysgenesis even when few signs suggestive of this anomaly are present.

Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Kathy Wagner ‐Mahler, Jean‐Yves Kurzenne, Frederique Gastaud, Marie Hoflack, Patricia Panaia Ferrari, Etienne Berard, Fabienne Giuliano, Houda Karmous‐Benailly, Pamela Moceri, Celine Jouannelle, Marine Bourcier, Elise Robart, Yves Morel Tags: ORIGINAL ARTICLE Source Type: research