Palma 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, Mendonca Berenice Bilharinho, Dénes Francisco Tibor
Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Pediatric Urology, São Paulo, Brazil.
Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Endocrinology, São Paulo, Brazil,
Sex Dev. 2024;18(1-6):34-39. doi: 10.1159/000541137. Epub 2024 Sep 9.
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.1543_1546dup 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.
