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[Transverse vaginal septum diagnosed in sisters. Cases report]
Gonzalo González García1, Patricia Bretón Hernández2, María J Boillos Calvo2
1Hospital Clínico Universitario Lozano Blesa, Zaragoza, España. patri_breton@hotmail.com.
Archivos Argentinos De Pediatria
|May 16, 2017
Summary
Transverse vaginal septum, a rare condition from failed development, can cause severe pain. This report details two sisters diagnosed with this disorder, highlighting a potential familial link.
Area of Science:
- Gynecology
- Reproductive Medicine
- Medical Genetics
Background:
- Transverse vaginal septum is a rare congenital anomaly resulting from incomplete fusion or canalization of the müllerian ducts and urogenital sinus.
- While often sporadic, a female sex-limited autosomal recessive inheritance pattern has been suggested, though familial cases are infrequently reported.
Observation:
- Two sisters presented with intense hypogastric abdominal pain at ages 11 and 12 during Tanner stage III pubertal development.
- Both sisters were diagnosed with transverse vaginal septum approximately five years apart.
Findings:
- The cases suggest a possible familial predisposition or genetic component in the etiology of transverse vaginal septum.
- The clinical presentation of primary amenorrhea and significant abdominal pain in adolescence is a key diagnostic indicator.
Implications:
- Early diagnosis and surgical intervention are crucial for managing transverse vaginal septum and improving patient health outcomes.
- Further investigation into the genetic underpinnings of this condition may aid in understanding its familial transmission patterns.
