Turner syndrome and associated problems in Turkish children: a multicenter study

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Turner syndrome (TS) is a genetic condition resulting from complete or partial X chromosome monosomy.
• Clinical manifestations in TS vary based on karyotype and genetic background.
• Understanding these variations is crucial for timely diagnosis and management.

Purpose of the Study:

• To systematically investigate the clinical features of Turner syndrome in relation to karyotype.
• To analyze a large cohort of pediatric patients in Turkey.
• To establish correlations between karyotype and specific clinical presentations.

Main Methods:

• Retrospective analysis of 842 karyotype-proven TS patients (0-18 years).
• Data collected from 35 centers across Turkey between 2013-2014.
• Evaluation of clinical features, karyotypes, congenital anomalies, and comorbidities.

Main Results:

• The most frequent karyotype was 45,X (50.7%).
• Short stature and delayed puberty were the most common presenting complaints.
• Congenital anomalies included cardiac defects (25%) and urinary system anomalies (16.3%).
• Other significant findings included Hashimoto's thyroiditis (11.1%), learning difficulties (39.1%), and dyslipidemia (11.4%).

Conclusions:

• This study represents the largest evaluation of karyotype-proven TS girls to date.
• The observed karyotype distribution and comorbidity profile align with international findings.
• Emphasizes the necessity of lifelong medical surveillance for individuals with Turner syndrome.