Clinical picture of early-infancy parathyroid hormone (PTH) resistance syndromes: is it time to improve diagnostic criteria?
Authors' conclusion
The clinical picture of iPPSD/PHP in early infancy differs from that of mid-late infancy and adults, thus current diagnostic criteria may not be appropriate for children.
Study context
- Population
- Patients with iPPSD/PHP regularly followed up at 2 European endocrinology tertiary centers
- Participants
- 117 patients
- Outcome
- Age of onset of main clinical and hormonal features
Methodological details2 European endocrinology tertiary centers
- 2 European endocrinology tertiary centers
Main finding
As reported in the abstract
Age of onset of main features
- Median age at diagnosis
- 5.9 years
- Median age of onset of PTH resistance
- 6.1 years
- Median age of onset of brachydactyly (BD)
- 5.8 years
- Median age of onset of TSH resistance
- 1.85 years
- Median age of onset of obesity
- 2 years
- Minor criteria more represented than major criteria before age 2 years
- P = .002
- No major criteria observed before age 2 years
- 64%
- At least one minor criterion before age 2 years
- 71%
- TSH resistance and obesity before age 2 years
- 20%
Observational data: associations, not effects.
Original publication
Clinical picture of early-infancy PTH resistance syndromes: is it time to improve diagnostic criteria? J Clin Endocrinol Metab. Published 8 April 2026. doi:10.
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