Herlyn–Werner–Wunderlinch: An unusual presentation in a patient with Prader–Willi syndrome

IF 1.8 4区医学 Q4 ENDOCRINOLOGY & METABOLISM

Endocrinologia Diabetes Y Nutricion Pub Date : 2024-04-01 DOI:10.1016/j.endien.2024.01.010

Laura Costa , Emma Garcia-Grau , Laura Toledo , Nuria Burgaya , Ramon Cos , Mireia Rojas , Olga Giménez-Palop , Assumpta Caixas

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引用次数: 0

Abstract

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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Herlyn-Werner-Wunderlinch：普拉德-威利综合征患者的异常表现

Herlyn-Werner-Wunderlich综合征是一种不常见的泌尿生殖系统异常，表现为子宫发育不良、半阴道阻塞和单侧肾脏异常。最常见的临床表现是月经初潮后痛经，但也可表现为疼痛和腹部肿块。普拉德-威利综合征是一种罕见的神经内分泌遗传综合征。我们报告了一例患有普拉德-威利综合征的 33 岁女性患者，她因阴道出血和腹痛被转诊至妇科门诊。在全身麻醉下进行了阴道镜和宫腔镜检查，发现右侧阴道隔膨出，左侧宫颈和半子宫正常。医生为她进行了阴道隔膜切除术，并做了完全的血肿引流术。这两种综合征之间的关联仍不清楚。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Endocrinologia Diabetes Y Nutricion Multiple-

CiteScore

2.10

自引率

10.50%

发文量

期刊介绍： Endocrinología, Diabetes y Nutrición is the official journal of the Spanish Society of Endocrinology and Nutrition (Sociedad Española de Endocrinología y Nutrición, SEEN) and the Spanish Society of Diabetes (Sociedad Española de Diabetes, SED), and was founded in 1954. The aim of the journal is to improve knowledge and be a useful tool in practice for clinical and laboratory specialists, trainee physicians, researchers, and nurses interested in endocrinology, diabetes, nutrition and related disciplines. It is an international journal published in Spanish (print and online) and English (online), covering different fields of endocrinology and metabolism, including diabetes, obesity, and nutrition disorders, as well as the most relevant research produced mainly in Spanish language territories. The quality of the contents is ensured by a prestigious national and international board, and by a selected panel of specialists involved in a rigorous peer review. The result is that only manuscripts containing high quality research and with utmost interest for clinicians and professionals related in the field are published. The Journal publishes Original clinical and research articles, Reviews, Special articles, Clinical Guidelines, Position Statements from both societies and Letters to the editor. Endocrinología, Diabetes y Nutrición can be found at Science Citation Index Expanded, Medline/PubMed and SCOPUS.