ESTIMATING THE PREVALENCE OF TURNER SYNDROME IN THE UNITED STATES AND EUROPE: A SYSTEMATIC LITERATURE REVIEW AND META-ANALYSIS
Author(s)
Subhara Raveendran, PhD1, Hannah Braunlin, MPH2, Devon Morgan, MS2, Maxine Blech, MPH2, Chelsea Catsburg, PhD2, Alden Smith, PharmD1.
1Ascendis Pharma, LLC, Palo Alto, CA, USA, 2BluePrint Orphan, Inc, New York, NY, USA.
1Ascendis Pharma, LLC, Palo Alto, CA, USA, 2BluePrint Orphan, Inc, New York, NY, USA.
OBJECTIVES: Turner syndrome (TS) is the most common congenital sex chromosomal condition in females and is associated with a range of physical and clinical manifestations, including short stature and ovarian insufficiency. However, diagnosis is often delayed until adolescence or adulthood due to variability in clinical presentation, resulting in incomplete epidemiologic characterization of TS and limited prevalence estimates. Therefore, this study aimed to estimate global TS prevalence via a systematic literature review and meta-analysis.
METHODS: Studies reporting TS prevalence were identified through a global systematic literature review of PubMed and Embase. Eligible studies reported TS cases in live-birth or living populations and were screened according to PRISMA guidelines. Two separate random-effects meta-analyses were conducted: (1) pooling studies reporting birth prevalence only (per 100,000 live births), and (2) pooling prevalence estimates from studies that followed patients after birth (per 100,000 persons). An additional sensitivity analysis was performed to estimate an all-ages TS prevalence after accounting for delayed diagnosis and survival.
RESULTS: Seven studies met the predefined inclusion criteria. The pooled birth prevalence of TS across three studies was 6.6 per 100,000 live births (95% CI: 5.4-8.2). Among four studies reporting prevalence with any postnatal follow-up (including ages ranging from birth to 16 years, birth to 22 years, and all ages), the pooled prevalence was 12.1 per 100,000 persons (95% CI: 3.8-38.7). The sensitivity analysis adjusting for delayed diagnosis and reduced survival yielded an all-ages prevalence of 16.8 per 100,000 persons (95% CI: 9.1-30.8).
CONCLUSIONS: This study demonstrated that the prevalence of diagnosed TS cases increased with longer follow-up, likely due to delays in diagnosis, with birth-based estimates much lower than postnatal estimates. These findings suggest that true TS prevalence may be underestimated due to limited follow-up, resulting in undiagnosed cases; adjusted analysis suggests prevalence could reach as high as 16.8 per 100,000 persons.
METHODS: Studies reporting TS prevalence were identified through a global systematic literature review of PubMed and Embase. Eligible studies reported TS cases in live-birth or living populations and were screened according to PRISMA guidelines. Two separate random-effects meta-analyses were conducted: (1) pooling studies reporting birth prevalence only (per 100,000 live births), and (2) pooling prevalence estimates from studies that followed patients after birth (per 100,000 persons). An additional sensitivity analysis was performed to estimate an all-ages TS prevalence after accounting for delayed diagnosis and survival.
RESULTS: Seven studies met the predefined inclusion criteria. The pooled birth prevalence of TS across three studies was 6.6 per 100,000 live births (95% CI: 5.4-8.2). Among four studies reporting prevalence with any postnatal follow-up (including ages ranging from birth to 16 years, birth to 22 years, and all ages), the pooled prevalence was 12.1 per 100,000 persons (95% CI: 3.8-38.7). The sensitivity analysis adjusting for delayed diagnosis and reduced survival yielded an all-ages prevalence of 16.8 per 100,000 persons (95% CI: 9.1-30.8).
CONCLUSIONS: This study demonstrated that the prevalence of diagnosed TS cases increased with longer follow-up, likely due to delays in diagnosis, with birth-based estimates much lower than postnatal estimates. These findings suggest that true TS prevalence may be underestimated due to limited follow-up, resulting in undiagnosed cases; adjusted analysis suggests prevalence could reach as high as 16.8 per 100,000 persons.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
EPH116
Topic
Epidemiology & Public Health
Disease
Diabetes/Endocrine/Metabolic Disorders (including obesity), No Additional Disease & Conditions/Specialized Treatment Areas, Pediatrics