Herlyn–Werner–Wunderlinch: An unusual presentation in a patient with Prader–Willi syndrome
Endocrinología, Diabetes y Nutrición (English ed.)(2024)
摘要
Herlyn–Werner–Wunderlich syndrome is an uncommon urogenital anomaly defined by uterus didelphys, obstructed hemi-vagina and unilateral renal anomalies. The most common clinical presentation is dysmenorrhoea following menarche, but it can also present as pain and an abdominal mass.Prader–Willi syndrome is a rare neuroendocrine genetic syndrome. Hypothalamic dysfunction is common and pituitary hormone deficiencies including hypogonadism are prevalent.We report the case of a 33-year-old female with Prader–Willi syndrome who was referred to the Gynaecology clinic due to vaginal bleeding and abdominal pain. Abdominal ultrasound revealed a haematometra and haematocolpos and computed tomography showed a uterus malformation and a right uterine cavity occupation (hematometra) as well as right kidney agenesis.Vaginoscopy and hysteroscopy were performed under general anaesthesia, finding a right bulging vaginal septum and a normal left cervix and hemiuterus. Septotomy was performed with complete haematometrocolpos drainage. The association of the two syndromes remains unclear.
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关键词
Prader–Willi syndrome,Herlyn–Werner–Wunderlichs syndrome,Obstructed hemivagina,Hypogonadism,Síndrome de Prader-Willi,Síndrome de Herlyn-Werner-Wunderlich,Hemivagina obstruida,Hipogonadismo
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