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特纳综合征女孩从儿科到成人保健的过渡。

Transition from pediatrics to adult health care in girls with turner syndrome.

机构信息

Endocrine Unit, Department of Medicine DIMED, University of Padova, Padova, Italy.

Endocrine Unit, University-Hospital of Padova, Padova, Italy.

出版信息

Expert Rev Endocrinol Metab. 2024 May;19(3):229-240. doi: 10.1080/17446651.2024.2347265. Epub 2024 Apr 25.

Abstract

INTRODUCTION

Turner Syndrome is a rare condition secondary to a complete or partial loss of one X chromosome, leading to a wide spectrum of clinical manifestations. Short stature, gonadal dysgenesis, cardiovascular malformations, and dysmorphic features characterize its common clinical picture.

AREAS COVERED

The main endocrine challenges in adolescent girls with Turner Syndrome are puberty induction (closely intertwined with growth) and fertility preservation. We discuss the most important clinical aspects that should be faced when planning an appropriate and seamless transition for girls with Turner Syndrome.

EXPERT OPINION

Adolescence is a complex time for girls and boys: the passage to young adulthood is characterized by changes in the social, emotional, and educational environment. Adolescence is the ideal time to encourage the development of independent self-care behaviors and to make the growing girl aware of her health, thus promoting healthy lifestyle behaviors. During adulthood, diet and exercise are of utmost importance to manage some of the common complications that can emerge with aging. All clinicians involved in the multidisciplinary team must consider that transition is more than hormone replacement therapy: transition in a modern Healthcare Provider is a proactive process, shared between pediatric and adult endocrinologists.

摘要

简介

特纳综合征是一种罕见的疾病,由一条 X 染色体完全或部分缺失引起,导致广泛的临床表现。身材矮小、性腺发育不全、心血管畸形和发育不良是其常见的临床特征。

涵盖领域

特纳综合征少女的主要内分泌挑战是青春期诱导(与生长密切相关)和生育力保存。我们讨论了在为特纳综合征少女进行适当和无缝过渡时应面对的最重要的临床方面。

专家意见

青春期对女孩和男孩来说都是一个复杂的时期:向成年期的过渡以社会、情感和教育环境的变化为特征。青春期是鼓励发展独立的自我保健行为的理想时机,使成长中的女孩意识到自己的健康,从而促进健康的生活方式行为。成年后,饮食和锻炼对于控制随着年龄增长可能出现的一些常见并发症至关重要。参与多学科团队的所有临床医生都必须认识到,过渡不仅仅是激素替代疗法:在现代医疗保健提供者中,过渡是一个积极主动的过程,由儿科和成人内分泌学家共同完成。

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