Читать книгу Ridley's The Vulva - Группа авторов - Страница 42

If the urogenital sinus fails to form the inferior portion of the vagina, then the lower vagina is replaced by fibrous tissue, and there can be an overlap with transverse vaginal septa. Most patients present at puberty with amenorrhoea. Associated anomalies of the cervix and uterus can exist [49,50], and surgical correction must be done on an individual basis by specialist teams [51]. A loss of function mutation of the TBX6 gene was found in one patient with distal vaginal atresia [52].

A degree of vaginal atresia can be part of complex anomalies including MRKH, Bardet–Biedl syndrome, McKusick‐Kaufman syndrome, Fraser syndrome [53], and Winter syndrome [54]. There is important overlap between Bardet–Biedl and McKusick‐Kaufman syndromes, and they cannot be reliably diagnosed at birth as the ophthalmic complications of Bardet–Biedl may manifest later [55].