Endocrine Alterations in Patients With Pachydermoperiostosis
Authors' conclusion
We establish that low IGF-1 and elevated estradiol levels are frequent features of PHO. Nine novel and 5 known pathogenic/likely pathogenic genetic variants were identified.
Study context
- Population
- Patients with pachydermoperiostosis (PHO) referred to endocrine centres with possible acromegaly, acromegaly excluded (no elevated IGF-1 and/or GH suppression on OGTT); 14 families14 families
- Participants
- 17 patients
- Outcome
- Genetic (HPGD and SLCO2A1 variants) and endocrine characteristics
Methodological detailsmulticentre
- Multicentre
Main finding
As reported in the abstract
Genetic and endocrine characteristics
- Low IGF-1 levels
- 9 patients (53%)
- Estradiol above normal range in male patients, with normal testosterone and prolactin
- 8 (62%)
- Biallelic HPGD variants
- 2/14 kindreds
- Biallelic SLCO2A1 variants (8 novel)
- 12/14 kindreds
- No identifiable pathogenic/likely pathogenic variant in HPGD or SLCO2A1; phenotype not different
- 2 patients
Observational data: associations, not effects.
Further findings
Clinical features
- Age at diagnosis, mean ± SD (range 9-43)
- 26.2 ± 9.0 years
- Digital clubbing
- all patients
- Periostosis
- 94%
- Arthralgia
- 88%
- Periarticular edema
- 77%
- Pachydermia
- 82%
- Coarsened facial features resembling acromegaly
- 71%
- Eyelash trichomegaly, blepharoptosis, high-arched palate, gingival hypertrophy, gastrointestinal symptoms, marfanoid habitus seen in some
Original publication
Endocrine Alterations in Patients With Pachydermoperiostosis. J Clin Endocrinol Metab. Published 29 January 2025. doi:10.
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