{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T14:49:46Z","timestamp":1766760586988,"version":"3.44.0"},"reference-count":79,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T00:00:00Z","timestamp":1738108800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO), usually due to biallelic loss of function variants in HPGD and SLCO2A1, has some features overlapping with acromegaly and is often referred to endocrinologists. A detailed endocrine assessment is not available for these patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To assess the genetic and endocrine characteristics of patients with PHO referred to endocrine centers with a possible diagnosis of acromegaly.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Seventeen patients from 14 families in which acromegaly was excluded based on lack of elevated insulin-like growth factor (IGF)-1 levels and\/or growth hormone suppression on an oral glucose tolerance test were assessed for HPGD and SLCO2A1 variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Age at diagnosis was 26.2 \u00b1 9.0 years (mean \u00b1 SD, range 9-43). Digital clubbing was present in all patients. Periostosis (94%), arthralgia (88%), periarticular edema (77%), pachydermia (82%), and coarsened facial features resembling acromegaly (71%) were present in the vast majority of the patients, while eyelash trichomegaly, blepharoptosis, high-arched palate, gingival hypertrophy, gastrointestinal symptoms, and marfanoid habitus were seen in some. Nine patients (53%) had low IGF-1 levels; the rest of the patients had IGF-1 levels in the lowest quartile of the reference range. Estradiol concentration was increased above the normal range in 8 male patients (62%) with normal testosterone and prolactin levels. Biallelic HPGD (2\/14 kindreds) or SLCO2A1 (8 novel) variants (12\/14 kindreds) were found. Two patients had no identifiable pathogenic\/likely pathogenic variant in HPGD or SLCO2A1. Their phenotype was not different from the other patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf050","type":"journal-article","created":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T06:40:40Z","timestamp":1738132840000},"page":"2818-2831","source":"Crossref","is-referenced-by-count":2,"title":["Endocrine Alterations in Patients With Pachydermoperiostosis"],"prefix":"10.1210","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2961-3316","authenticated-orcid":false,"given":"Maria","family":"Stelmachowska-Bana\u015b","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Centre of Postgraduate Medical Education , 01-813 Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3541-6474","authenticated-orcid":false,"given":"Sayka","family":"Barry","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, William 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