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特纳综合征的妇科视角。

Turner syndrome through the lens of a gynaecologist.

机构信息

Late Effects Clinic, Sheffield Teaching Hospitals NHS Trust, Sheffield, UK.

Menopause Service, Jessop Wing, Sheffield Teaching Hospitals NHS Trust, Sheffield, UK.

出版信息

Post Reprod Health. 2021 Jun;27(2):98-108. doi: 10.1177/2053369120958593. Epub 2020 Sep 21.

Abstract

Turner syndrome is a rare condition affecting 1 in 2500 female births and yet is the most common sex chromosome abnormality in women. Described as a cradle-to-grave condition, it requires life-long multidisciplinary management. Accelerated atresia of the primordial follicular pool leads to premature ovarian insufficiency, which is an almost inevitable feature of Turner syndrome, especially in 45XO karyotype. Many patients will have had their diagnosis made in childhood and require paediatric endocrinology management especially for induction of puberty. At the age of 18, patients may then be transitioned to an adult service. Continuation of multidisciplinary care for these women requires input from specialist services in menopause care, reproductive medicine and high-risk pregnancy, cardiology, endocrinology, bone health and psychosocial care. A gynaecologist may take on the mantle of lead clinician especially during the perceived reproductive years of a Turner syndrome patient's life, hinging together management input from other disciplines. This review attempts to summarise an overview of the involvement of such a multidisciplinary team in the management of a single but complex condition, through the lens of a gynaecologist.

摘要

特纳综合征是一种罕见的疾病,每 2500 名女性出生中就有 1 例,是女性中最常见的性染色体异常。特纳综合征被描述为一种从摇篮到坟墓的疾病,需要终身多学科管理。原始卵泡池的加速闭锁导致卵巢早衰,这是特纳综合征的一个几乎不可避免的特征,尤其是在 45XO 核型中。许多患者在儿童时期就已确诊,并需要儿科内分泌科的管理,特别是青春期的诱导。18 岁时,患者可能会过渡到成人服务。这些女性的多学科护理的继续需要来自更年期护理、生殖医学和高危妊娠、心脏病学、内分泌学、骨骼健康和社会心理护理等专科服务的投入。妇科医生可能会承担主要临床医生的角色,特别是在特纳综合征患者的所谓生育年龄期间,需要整合其他学科的管理投入。通过妇科医生的视角,本篇综述试图概述一个多学科团队在管理这种单一但复杂疾病中的作用。

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