| Full text | |
| Author(s): Show less - |
Sircili, Maria Helena Palma
;
Batista, Rafael Loch
;
Barreto, Enoch Quindere de Sa
;
Bueno, Solange Paiva
;
Benedetti, Anna Flavia Figueredo
;
Craveiro, Flora Ladeira
;
Ramos, Raquel Matinez
;
Monteiro Filho, Marcelo Praxedes
;
Domenice, Sorahia
;
Mendonca, Berenice Bilharinho
;
Denes, Francisco Tibor
Total Authors: 11
|
| Document type: | Journal article |
| Source: | SEXUAL DEVELOPMENT; v. N/A, p. 6-pg., 2024-09-09. |
| Abstract | |
Introduction: 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. Methods: 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. Results: Genetic analysis revealed a novel frameshift indel variant (c.1543_1546dup p.Thr516Argfs*7) in the BBS10 gene. This fi nding 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. Conclusion: 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. (c) 2024 S. Karger AG, Basel (AU) | |
| FAPESP's process: | 19/26780-9 - Molecular and epigenetic research on Differences in Sexual Development (DSD): impact of scientific diffusion on the relationship between science and society |
| Grantee: | Berenice Bilharinho de Mendonça |
| Support Opportunities: | Research Projects - Thematic Grants |