Turner Syndrome: Diagnostic and Management Considerations for Perinatal Clinicians

Area of Science:

• Pediatric Endocrinology
• Clinical Genetics
• Neonatology

Background:

• Turner syndrome is a chromosomal condition affecting females, often presenting in infancy with subtle or overt clinical features.
• Early identification and management are crucial for optimizing long-term health outcomes.
• Perinatal clinicians play a vital role in the initial assessment and referral of infants with suspected Turner syndrome.

Purpose of the Study:

• To provide perinatal clinicians with a comprehensive overview of Turner syndrome in neonates.
• To detail the clinical manifestations that warrant diagnostic investigation.
• To guide the diagnostic workup, essential postnatal screening, and effective family counseling strategies.

Main Methods:

• Review of current literature and clinical guidelines on Turner syndrome diagnosis and management in infants.
• Synthesis of key clinical features, diagnostic algorithms, and screening protocols.
• Emphasis on best practices for genetic counseling and psychosocial support for affected families.

Main Results:

• Identified key dysmorphic features and non-immune hydrops as indicators for genetic testing.
• Outlined the recommended diagnostic pathway, including karyotyping.
• Detailed essential screenings for cardiac, renal, and endocrine abnormalities post-diagnosis.

Conclusions:

• Early recognition of clinical signs is paramount for timely diagnosis of Turner syndrome in infants.
• A systematic approach to diagnosis, screening, and counseling improves patient care and family support.
• Multidisciplinary collaboration is essential for comprehensive management of infants with Turner syndrome.