Metabolic interaction network and cardiac abnormalities: a case report of Turner Syndrome complicated by T2DM, hypertension, fatty liver, and sinus tachycardia

Turner syndrome (TS) is a sex chromosome disorder caused by X-chromosome abnormalities, with gonadal dysgenesis, short stature, and clinical heterogeneity. With improved survival rates, adult patients with TS increasingly face a heightened risk of metabolic comorbidities, including insulin resistance and its progression to type 2 diabetes mellitus (T2DM), as well as hypertension and metabolic dysfunction-associated steatotic liver disease (MASLD). However, the interactive mechanisms among these metabolic abnormalities and their early warning signs for progression remain insufficiently explored. This study aims to report a TS case with multiple metabolic complications and analyze the clinical significance of associated cardiac manifestations. An 18-year-old female with Turner syndrome was admitted in January 2022 with multiple comorbidities. Persistent sinus tachycardia was documented during the January 2022 admission in the setting of severe hyperglycemia and multiple metabolic abnormalities; however, the underlying cause of tachycardia remained uncertain. The patient also presented with poorly controlled diabetes and multiple metabolic abnormalities. Metabolic assessments revealed significant insulin resistance accompanied by MASLD and hyperlipidemia. We proposed a hypothesis-generating metabolic–cardiac interaction model and considered whether sinus tachycardia might represent a clinically accessible signal associated with metabolic deterioration. This case highlights the intricate interactions of metabolic abnormalities in Turner syndrome and raises the possibility that sinus tachycardia may serve as a potential early clinical signal of metabolic deterioration. Prospective studies are needed to validate this hypothesis. A multidimensional and multidisciplinary management strategy is essential for TS patients with complex metabolic and cardiac comorbidities. Future research should further validate the metabolic interaction network model and explore the diagnostic value of electrocardiographic changes such as sinus tachycardia in the early intervention of TS-related metabolic and cardiovascular complications.

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Journal
BMC Endocrine Disorders
Published
2026-10-14
DOI
https://doi.org/10.1186/s12902-026-02661-9
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Type
article
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article

Metabolic interaction network and cardiac abnormalities: a case report of Turner Syndrome complicated by T2DM, hypertension, fatty liver, and sinus tachycardia

Yuxi Bian, Chengzhen Jing, Liping Zhou, Zhenhan Li et al.
BMC Endocrine Disorders
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
article

Metabolic interaction network and cardiac abnormalities: a case report of Turner Syndrome complicated by T2DM, hypertension, fatty liver, and sinus tachycardia

Yuxi Bian, Chengzhen Jing, Liping Zhou, Zhenhan Li, Zhongpei Chen
article en

Abstract

Turner syndrome (TS) is a sex chromosome disorder caused by X-chromosome abnormalities, with gonadal dysgenesis, short stature, and clinical heterogeneity. With improved survival rates, adult patients with TS increasingly face a heightened risk of metabolic comorbidities, including insulin resistance and its progression to type 2 diabetes mellitus (T2DM), as well as hypertension and metabolic dysfunction-associated steatotic liver disease (MASLD). However, the interactive mechanisms among these metabolic abnormalities and their early warning signs for progression remain insufficiently explored. This study aims to report a TS case with multiple metabolic complications and analyze the clinical significance of associated cardiac manifestations. An 18-year-old female with Turner syndrome was admitted in January 2022 with multiple comorbidities. Persistent sinus tachycardia was documented during the January 2022 admission in the setting of severe hyperglycemia and multiple metabolic abnormalities; however, the underlying cause of tachycardia remained uncertain. The patient also presented with poorly controlled diabetes and multiple metabolic abnormalities. Metabolic assessments revealed significant insulin resistance accompanied by MASLD and hyperlipidemia. We proposed a hypothesis-generating metabolic–cardiac interaction model and considered whether sinus tachycardia might represent a clinically accessible signal associated with metabolic deterioration. This case highlights the intricate interactions of metabolic abnormalities in Turner syndrome and raises the possibility that sinus tachycardia may serve as a potential early clinical signal of metabolic deterioration. Prospective studies are needed to validate this hypothesis. A multidimensional and multidisciplinary management strategy is essential for TS patients with complex metabolic and cardiac comorbidities. Future research should further validate the metabolic interaction network model and explore the diagnostic value of electrocardiographic changes such as sinus tachycardia in the early intervention of TS-related metabolic and cardiovascular complications.

BMC Endocrine Disorders
First People's Hospital of Chongqing (CN), Chongqing Medical University (CN)
Openalex Percentile: Top 14%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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