{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T15:36:18Z","timestamp":1771515378602,"version":"3.50.1"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0447_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Protein glycosylation is a crucial process involving the addition of oligosaccharides to proteins, which plays a significant role in stabilizing proteins and mediating protein\u2013protein interactions. Mutations in genes associated with glycosylation can lead to congenital disorders of glycosylation (CDG), resulting in multisystem disorders. One such example is phosphoglucomutase 1 (PGM1) -CDG, caused by a deficiency of the PGM1 enzyme. In this report, we describe a patient with PGM1-CDG who was initially misdiagnosed with growth hormone insensitivity and benefited from recombinant human insulin-like growth factor-1 (rhIGF-1) therapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0447_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A 2-year-11-month-old female patient, born to first-degree cousin parents, presented with hypoglycemia and short stature. Her physical examination revealed frontal bossing, infantile facial appearance, and short stature. Laboratory investigations revealed that basal and stimulated growth hormone levels were very high, IGF-1 was low, and the inadequate response to the IGF generation test was consistent with growth hormone insensitivity (GHI). The patient was started on rhIGF-1 therapy, resulting in significant height gain. Subsequently, the patient showed improvement in height with rhIGF-1 therapy. The patient, who had additional findings such as elevated creatine kinase (CK) and transaminase levels and cardiomyopathy, was diagnosed with PGM1-CDG.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0447_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This case highlights that PGM1-CDG can mimic clinical and laboratory findings of GHI. CDG diagnosis should be considered in cases with clinical and laboratory findings of GHI accompanied by multisystem disorders such as hepatopathy, elevated CK, and cardiomyopathy. This patient\u2019s successful response to rhIGF-1 therapy highlights the potential benefits of targeted therapies in treating growth hormone-related disorders in patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0447","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T10:01:26Z","timestamp":1760608886000},"page":"199-203","source":"Crossref","is-referenced-by-count":0,"title":["Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8666-4454","authenticated-orcid":false,"given":"Seyit Ahmet","family":"U\u00e7akt\u00fcrk","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , University of Health Sciences, Adana City Training and Research Hospital , Adana , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8475-9070","authenticated-orcid":false,"given":"Emre","family":"\u00d6zer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Endocrinology , Ministry of Health Ankara G\u00fclhane Training and Research Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4938-3420","authenticated-orcid":false,"given":"Ahmet Cevdet","family":"Ceylan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Y\u0131ld\u0131r\u0131m Beyaz\u0131t University Faculty of Medicine, Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1597-8418","authenticated-orcid":false,"given":"Eda","family":"Mengen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Endocrinology , Cukurova University Faculty of Medicine , Adana , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,10,17]]},"reference":[{"key":"2026021914572469848_j_jpem-2025-0447_ref_001","doi-asserted-by":"crossref","unstructured":"de Zegher, F, Jaeken, J. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. Pediatr Res 1995;37:395\u2013401. https:\/\/doi.org\/10.1203\/00006450-199504000-00003.","DOI":"10.1203\/00006450-199504000-00003"},{"key":"2026021914572469848_j_jpem-2025-0447_ref_002","unstructured":"Jaeken, J. Congenital disorders of glycosylation: a multi-genetic disease family with multiple subcellular locations. J\u00a0Mother Child 2020;24:14\u201320. https:\/\/doi.org\/10.34763\/jmotherandchild.20202402si.2005.000004."},{"key":"2026021914572469848_j_jpem-2025-0447_ref_003","doi-asserted-by":"crossref","unstructured":"Altassan, R, Radenkovic, S, Edmondson, AC, Barone, R, Brasil, S, Cechova, A, et al.. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management. 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