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Winter syndrome: about an uncommon case report.
Aziz Slaoui1,2, Sarah Talib3, Abdelali Kallali4
1Gynaecology-Obstetrics and Endoscopy Department, Maternity Souissi, University Hospital Center IBN SINA, University Mohammed V, Rabat, Morocco. azizslaoui27@gmail.com.
BMC Women'S Health
|April 23, 2020
Summary
Winter syndrome, a rare condition, presents with congenital anomalies including renal, genital, and ear malformations. This case highlights successful surgical management of vaginal atresia in an adolescent patient.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Otolaryngology
Background:
- Winter syndrome is a rare autosomal recessive disorder characterized by renal hypoplasia, distal vaginal atresia, and middle ear ossicle malformations.
- Clinical presentation typically involves primary amenorrhea, cyclical abdominal pain, and conductive hearing loss in adolescent females with XX genotype.
Observation:
- A 14-year-old girl presented with symptoms consistent with Winter syndrome, including vaginal atresia.
- Diagnosis was confirmed through clinical examination and imaging, revealing a hematocolpos secondary to distal vaginal atresia.
Findings:
- The case demonstrates the successful management of vaginal atresia using a transperineal vaginal pull-through procedure.
- Magnetic resonance imaging (MRI) was crucial in assessing the extent of atresia and guiding surgical planning.
Implications:
- Effective surgical intervention for vaginal atresia in Winter syndrome aims to alleviate pain, facilitate normal sexual function, and preserve fertility.
- A comprehensive understanding of embryology, advanced imaging (MRI), and clinical evaluation is essential for optimal surgical outcomes.
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