Growth patterns and bone maturation in children with sex chromosomal (45,X/46,XY) differences of sex development
Authors' conclusion
Female growth charts and bone age readings best reflect longitudinal growth and maturation in individuals with 45,X/46,XY DSD and provide the most accurate prediction of nFH. Larger prospective studies are needed to guide evidence-based treatment decisions.
Study context
- Population
- Children with 45,X/46,XY mosaicism DSD, 26 centres54 with longitudinal data
- Participants
- 95 children
- Exposure
- Group 1 vs Group 2
- Outcome
- Mean height SDS, bone age (Greulich and Pyle), PAH, TH and nFH
Methodological detailsmulticentre, registry-based
- Multicentre
- Registry-based
Main finding
As reported in the abstract
Near-final height (nFH)
| Group | Value | Near-final height (nFH) SD score (SDS), female charts | nFH SDS, male charts |
|---|---|---|---|
| Group 1 | mean 157.5 cm | −0.7 | −2.0 |
| Group 2 | mean 160.3 cm | −0.3 | −1.6 |
Value
Group 1mean 157.5 cm
Group 2mean 160.3 cm
Near-final height (nFH) SD score (SDS), female charts
Group 1−0.7
Group 2−0.3
nFH SDS, male charts
Group 1−2.0
Group 2−1.6
- Between Group 1 and Group 2: n.s. — n.s.
Observational data: associations, not effects.
Further findings
Bone age
- Bone age delayed using female standards and advanced using male standards
Height prediction
- Female-based predicted adult height (PAH) slightly underestimated nFH; male-based PAH slightly overestimated it
- PAH approximated nFH more accurately than target height (TH)
nFH by growth hormone (GH) treatment
- nFH similar with and without GH treatment
- Interpretation limited by small sample size and treatment bias
Original publication
Growth patterns and bone maturation in children with sex chromosomal (45,X/46,XY) differences of sex development. Eur J Endocrinol. Published 19 May 2026. doi:10.
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