Turner syndrome: From birth to adulthood

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Turner syndrome is a chromosomal condition resulting from the complete or partial loss of an X chromosome.
• It presents with diverse clinical manifestations.
• Genetic mosaicism is frequently observed in affected individuals.

Purpose of the Study:

• To retrospectively analyze the diagnosis, clinical course, and current status of patients with Turner syndrome.
• To evaluate treatment outcomes and long-term follow-up in a cohort of patients.
• To identify key challenges in managing Turner syndrome.

Main Methods:

• Retrospective, descriptive study design.
• Review of medical records for 45 female patients over 40 years.
• Supplemented with telephone surveys for current status assessment.

Main Results:

• Short stature was the primary diagnosis reason (54%), with increased prenatal diagnoses recently.
• 69% of patients had final short stature despite growth hormone and oxandrolone treatment.
• Gonadal failure affected 66%, with 80% completing middle to high education; adult follow-up was found to be irregular.

Conclusions:

• Short stature and gonadal failure are the most common manifestations of Turner syndrome.
• Genetic mosaicism is prevalent in diagnosed cases.
• Adult follow-up care for Turner syndrome patients is suboptimal and needs enhancement.