{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:26:32Z","timestamp":1783445192035,"version":"3.54.6"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0584_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Kenny\u2013Caffey syndrome type 2 (KCS2) is a very rare genetic disorder characterized by growth retardation and hypoparathyroidism, due to autosomal dominantly inherited pathogenic variants in the\n                      <jats:italic>FAM111A<\/jats:italic>\n                      gene. In this report, we presented a pediatric patient diagnosed as KCS2, with severe short stature and late-onset hypocalcemia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0584_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 7-year-old male patient was referred to our clinic for growth retardation. His body weight, height, and body mass index were 13.1\u202fkg [(\u22124.9) standard deviation (SD) score], 94.8\u202fcm (\u22125.4 SD score), and 14.6\u202fkg\/m\n                      <jats:sup>2<\/jats:sup>\n                      (\u22120.8 SD score), respectively. He had dysmorphic features including a triangular face, frontal bossing, low-set ears, and a bulbous nose. His height velocity was 3.97\u202fcm\/year (\u22121.1 SD score), and serum insulin-like growth factor-1 level was low. The peak growth hormone (GH) response during the GH stimulation tests was 8.5\u202fng\/mL. Pituitary magnetic resonance imaging showed a partially empty sella and GH treatment was initiated. At the end of the first year of treatment, routine laboratory tests revealed hypocalcemia, hyperphosphatemia, and inappropriately low parathyroid hormone levels. His skeletal survey demonstrated cortical thickening and medullary stenosis of the long bones. Based on these findings, KCS2 was considered in the differential diagnosis, and genetic testing revealed a heterozygous pathogenic variant (c.1706G&gt;A) in\n                      <jats:italic>FAM111A<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0584_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>KCS2 should be considered in patients with severe growth retardation and hypoparathyroidism, particularly when cortical thickening and medullary narrowing of long bones are observed. Responses to the GH treatment may vary among those individuals, and hypocalcemia may occur in the form of transient episodes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0584","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T15:58:25Z","timestamp":1773763105000},"page":"722-726","source":"Crossref","is-referenced-by-count":0,"title":["A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny\u2013Caffey syndrome type 2"],"prefix":"10.1515","volume":"39","author":[{"given":"G\u00fcl\u015fen","family":"\u00d6zer","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , University of Health Sciences, Dr. Beh\u00e7et Uz Children\u2019s Hospital , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9368-8868","authenticated-orcid":false,"given":"\u0130brahim Mert","family":"Erba\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , University of Health Sciences, Dr. Beh\u00e7et Uz Children\u2019s Hospital , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Durdug\u00fcl","family":"Ayy\u0131ld\u0131z Emecen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetic Diseases , University of Health Sciences, Dr. Beh\u00e7et Uz Children\u2019s Hospital , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-284X","authenticated-orcid":false,"given":"Ak\u00e7ahan","family":"Akal\u0131n","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetic Diseases , Diyarbak\u0131r Children\u2019s Hospital , Diyarbak\u0131r , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tar\u0131k","family":"K\u0131rkg\u00f6z","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , University of Health Sciences, Dr. Beh\u00e7et Uz Children\u2019s Hospital , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0598-3494","authenticated-orcid":false,"given":"\u00d6zge","family":"K\u00f6pr\u00fcl\u00fc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , University of Health Sciences, Dr. Beh\u00e7et Uz Children\u2019s Hospital , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d6zlem","family":"Nalbanto\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , University of Health Sciences, Dr. Beh\u00e7et Uz Children\u2019s Hospital , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filiz","family":"Hazan","sequence":"additional","affiliation":[{"name":"Department of Genetics , University of Health Sciences, Dr. Beh\u00e7et Uz Children\u2019s Hospital , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Behzat","family":"\u00d6zkan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , University of Health Sciences, Dr. Beh\u00e7et Uz Children\u2019s Hospital , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,3,16]]},"reference":[{"key":"2026070716574681969_j_jpem-2025-0584_ref_001","doi-asserted-by":"crossref","unstructured":"Eren, E, Tezcan \u00dcnl\u00fc, H, Ceylaner, S, Tar\u0131m, \u00d6. 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