Visualizing Turner Syndrome.

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Turner syndrome (TS) diagnosis presents ongoing challenges for healthcare providers.
• These diagnostic difficulties often lead to delayed treatment and suboptimal clinical management.
• Understanding the physical manifestations of TS is crucial for timely identification.

Purpose of the Study:

• To provide an updated overview of the physical appearance of girls and women with Turner syndrome.
• To illustrate the phenotypic variability within the TS population.
• To aid healthcare professionals in recognizing TS through detailed clinical descriptions and photographs.

Main Methods:

• Clinical photographs and detailed clinical descriptions were collected.
• Data were gathered from a cohort of 25 Danish girls and women diagnosed with TS.
• Phenotypic features were systematically documented.

Main Results:

• The study highlights a broad spectrum of physical appearances among individuals with TS.
• Significant variation in the clinical phenotype was observed across the cohort.
• Photographic and descriptive data underscore the heterogeneity of TS manifestations.

Conclusions:

• The wide variation in physical appearance and clinical phenotype necessitates increased awareness among healthcare professionals.
• Early and accurate diagnosis of TS is essential for initiating appropriate medical care and management.
• This updated clinical description serves as a valuable resource for diagnosing Turner syndrome.