Early Diagnosis and Multidisciplinary Management of Turner Syndrome: A Paediatric Case Study

Authors:

DOI: 10.23880/apct-16000253

Volume 9, Issue 4

Abstract

Turner syndrome is the most common sex chromosome abnormality in females, occurring in approximately 1 in 2,000 live births. It is primarily characterized by short stature and gonadal dysfunction, which often lead to delayed or absent puberty and infertility. Early diagnosis of Turner syndrome is crucial, as it allows for the timely initiation of a multidisciplinary management plan, addressing both physical and psychosocial aspects of the condition. Growth hormone therapy plays a pivotal role in improving height outcomes in affected individuals, particularly when started at an early age. Additionally, estrogen replacement therapy is essential for initiating the development of secondary sexual characteristics, maintaining uterine health, and ensuring proper bone mineralization to prevent osteoporosis in later life. We report the case of a 10-yearold female child who presented with complaints of short stature, a webbed neck, and widely spaced nipples. Upon clinical examination and evaluation, the patient exhibited phenotypic features consistent with Turner syndrome. Chromosomal analysis via karyotyping confirmed the diagnosis. Early therapeutic intervention, including growth hormone and planned estrogen replacement therapy, was initiated to optimize growth and development outcomes. This case underscores the importance of early recognition and tailored treatment for improving the quality of life in individuals with Turner syndrome.

Keywords: Turner Syndrome; Short Stature; Gonadal Failure; Growth Hormone Therapy; Estrogen Replacement Therapy; Karyotype Analysis

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