Related Experiment Videos
Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body
G I Baroncelli1, S Bertelloni, G Perri
1Endocrine Unit, Chair of Preventive Pediatrics, Department of Pediatrics, Pisa, Italy.
Insights
X-linked hypophosphatemic rickets (HYP) typically causes growth failure. In a HYP patient with Klinefelter syndrome, normal growth occurred, suggesting Klinefelter syndrome modifies typical HYP growth patterns.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Auxology
Background:
- X-linked hypophosphatemic rickets (HYP) is characterized by growth failure and disproportionate short stature.
- Klinefelter syndrome (47,XXY) is a genetic condition affecting males, often associated with taller stature and developmental variations.
Observation:
- A child with HYP and Klinefelter syndrome exhibited normal linear growth and body proportions.
- Auxologic data from this patient were compared to a HYP half-brother with documented growth failure despite treatment.
Findings:
- The proband with concomitant HYP and Klinefelter syndrome showed a lack of typical HYP-related body disproportion.
- In contrast, the HYP half-brother's body disproportion, though reduced by treatment, remained a significant feature.
Implications:
- The findings suggest that Klinefelter syndrome may mitigate the characteristic growth abnormalities seen in X-linked hypophosphatemic rickets.
- This case highlights the complex interplay between genetic conditions and their impact on pediatric growth and development.
- Further research is warranted to elucidate the mechanisms underlying this interaction.
Abstract:
Growth failure with disproportionate short stature is the major clinical feature of patients with X-linked hypophosphatemic rickets (HYP). We studied the pattern of linear growth and body proportion in an untreated normally growing HYP child also affected by Klinefelter's syndrome. Auxologic data were compared with those of a HYP half-brother who showed growth failure despite long-term treatment either with vitamin D or with vitamin-D-analog plus phosphate salt supplementation. The degree of body disproportion changed from negative values to positive values in the proband, whereas it was reduced in the half-brother. We conclude that, in the proband, the normal pattern of growth and the lack of the typical body disproportion as seen in HYP patients are attributable to the concomitant presence of Klinefelter's syndrome.