Prevalence and Changes in Genetic and Clinical Characteristics in Growth Hormone-Treated Belgian Girls with Turner Syndrome: A Study from the BELGROW Registry
Authors' conclusion
Genotype distribution and timing of TS diagnosis have significantly changed since 1991, while the annual number of girls starting GH therapy has remained stable. A 45,X karyotype is associated with earlier diagnosis and more comorbidities.
Study context
- Population
- Growth hormone (GH)-treated girls with Turner syndrome (TS) in BELGROW, the Belgian national GH registry, 1985–2022
- Participants
- 716 participants
- Exposure
- 1991-2002 vs 2003-2017 period
- Group 1n = 250reference
- Group 2n = 270
- Outcome
- Trends in karyotype, age at diagnosis and phenotype over three decades
Methodological detailsnationwide, multicenter, registry-based (BELGROW)
- Nationwide
- Multicenter
- Registry-based (BELGROW)
Main finding
As reported in the abstract
Karyotype, age at diagnosis and phenotype
- Annual number of girls with TS starting GH remained stable (mean n/year)
- 19
- Monosomy 45,X (entire cohort)
- 44%
- Structural X anomalies
- 27%
- 45,X/46,XX mosaicism
- 13%
- Triple X mosaicism
- 4%
- 45,X/46,XY or complex Y anomalies
- 6%
- Other karyotypes
- 6%
- Median age at diagnosis
- 6.4 years
- Diagnosed prenatally
- 7.6%
- Diagnosed before age 1
- 24%
- Diagnosed in childhood
- 49%
- Diagnosed after 12 years
- 19%
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Age at diagnosis by karyotype45,X vs Other genotypes · earlier with 45,X (median 2.2 vs. 8 years) | P < 0.001 |
Affected organ systems
- Skeletal
- 73%
- Neurosensory
- 60%
- Cardiac
- 29%
- Skeletal malformations more frequent with 45,X
- P < 0.05
- Cardiac malformations more frequent with 45,X
- P < 0.01
Original publication
Prevalence and Changes in Genetic and Clinical Characteristics in Growth Hormone-Treated Belgian Girls with Turner Syndrome: A Study from the BELGROW Registry. Horm Res Paediatr. Published 23 January 2026. doi:10.
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