Maria Helena Sircili, Rafael Loch Batista, Enoch Quindere de Sá Barreto, Solange Paiva Bueno, Anna Flávia Figueredo Benedetti, Flora Ladeira Craveiro, Raquel Matinez Ramos, Marcelo Praxedes Monteiro Filho, Sorahia Domenice, Berenice Bilharinho de Mendonça, Francisco Tibor Denes
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...
September 9, 2024: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation