Growth hormone therapy in Turner syndrome: Do cytogenetic subtypes influence outcomes?

4区医学 Q3 Nursing

Endocrinologia, Diabetes y Nutricion Pub Date : 2026-10-01 Epub Date: 2026-06-09 DOI:10.1016/j.endinu.2026.501821

Ingrid-Ioana Herșcovici, Monica Cristina Pânzaru, Georgiana Constantinescu, Letiția Leuștean, Maria-Christina Ungureanu, Cristina Preda, Cristina Rusu

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Abstract

Turner syndrome (TS) is a chromosomal disorder caused by complete or partial loss of one X chromosome, occurring in approximately 1 in 2500 live female births. Short stature, resulting from haploinsufficiency of the short stature homeobox-containing (SHOX) gene, absence of a pubertal growth spurt, and ovarian insufficiency are hallmark features. Recombinant human growth hormone (GH) therapy remains the mainstay of management, increasing adult height by approximately 5–8 cm. This review examines how cytogenetic subtypes influence GH response, focusing on 45,X monosomy, mosaicism, and structural abnormalities such as isochromosome Xq and ring X. Patients with 45,X monosomy often show a favorable initial response but a more rapid decline in growth velocity, whereas mosaic patients maintain better long-term outcomes. Structural variants involving Xp loss exhibit similarly attenuated responses. Overall, differences between cytogenetic subtypes tend to diminish over time, with age at therapy initiation, treatment duration, and timing of pubertal induction exerting a greater influence on final height outcomes.

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生长激素治疗特纳综合征：细胞遗传学亚型影响预后吗？

特纳综合征（TS）是一种染色体疾病，由一条X染色体的完全或部分缺失引起，大约每2500名活产女性中就有1例发生。矮小是由矮小同型盒基因（SHOX）单倍体不足、缺乏青春期生长高峰和卵巢功能不全造成的。重组人生长激素（GH）治疗仍然是主要的治疗方法，可使成人身高增加约5-8厘米。这篇综述探讨了细胞遗传学亚型如何影响生长激素反应，重点关注45、X单体、嵌合体和结构异常，如同染色体Xq和X环。45、X单体患者通常表现出良好的初始反应，但生长速度下降更快，而马赛克患者则保持更好的长期预后。涉及Xp损失的结构变体表现出类似的衰减响应。总体而言，细胞遗传亚型之间的差异倾向于随着时间的推移而减少，治疗开始时的年龄、治疗持续时间和青春期诱导的时间对最终身高结果的影响更大。

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 Nursing-Nutrition and Dietetics

CiteScore

2.10

自引率

0.00%

发文量

169

审稿时长

35 days

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.