Neonatal Hydrocolpos in Bardet-Biedl syndrome due to a novel frameshift indel in the BBS10 gene

• Published in: Sexual development p. 1
• Main Authors: Sircili, Maria Helena, Batista, Rafael Loch, Barreto, Enoch Quindere de Sá, Bueno, Solange Paiva, Figueredo Benedetti, Anna Flávia, Craveiro, Flora Ladeira, Ramos, Raquel Matinez, Monteiro Filho, Marcelo Praxedes, Domenice, Sorahia, de Mendonça, Berenice Bilharinho, Denes, Francisco Tibor
• Format: Journal Article
• Language: English
• Published: Switzerland 09.09.2024
• ISSN: 1661-5433
• DOI: 10.1159/000541137

Hydrocolpos, a rare condition characterized by cystic dilatation of the vagina, can arise from various etiologies, including isolated imperforate hymen and vaginal atresia. Genetic conditions, such as Bardet-Biedl syndrome (BBS), may also manifest with hydrocolpos as part of urogenital malformations. We present a case of neonatal hydrocolpos associated with BBS. Sequencing of 19 BBS genes was performed to elucidate the genetic basis of the syndrome. Genetic analysis revealed a novel frameshift indel variant (c.1546_1547insGATA p.Thr516Argfs*7) in the BBS10 gene. This finding expands the spectrum of BBS mutations and underscores the importance of genetic evaluation in patients with hydrocolpos, particularly when associated with additional clinical features suggestive of syndromic etiology. Pediatric urologists should maintain a high index of suspicion for underlying genetic conditions, including BBS, in neonates presenting with hydrocolpos, given the potential for more severe associated complications such as renal and retinal diseases, obesity, and polydactyly.