{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:58:33Z","timestamp":1791874713500,"version":"4.3.4"},"reference-count":19,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0148_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Somatotropinomas are extremely rare in children and frequently associated with genetic causes. Among pituitary gigantism, approximately 30\u202f% are attributed to the aryl hydrocarbon receptor-interacting protein (\n                      <jats:italic>AIP<\/jats:italic>\n                      ) gene mutations, whereas other genetic causes are less common. These mutations cause more aggressive tumors that are challenging to control with a single intervention and often exhibit resistance to somatostatin analogs (SSAs). Our aim is to present a pediatric patient with a somatotropinoma due to a novel\n                      <jats:italic>AIP<\/jats:italic>\n                      variant who responded positively to SSA therapy following a single surgical intervention.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0148_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 15-year and 8-month-old male patient presented with complaints of excessive height and enlargement of the hands and feet over the past 2\u00a0years. Laboratory investigations revealed a random growth hormone level of 50\u202f\u03bcg\/L (normal range [NR]: 0.077\u201310.8) and insulin-like growth factor-1(IGF-1) level of 1,107\u202fng\/mL (age-adjusted NR: 224\u2013978\/&gt;+2 standardised deviation scores). Magnetic resonance imaging demonstrated a pituitary macroadenoma extending into the suprasellar region. A craniotomy was performed, and the majority of the tumor was resected. Due to the presence of residual tumor, SSA therapy (octreotide-LAR) was initiated. After 1\u00a0year of follow-up, IGF-1 levels returned to the normal range, and tumor growth was controlled. Genetic analysis identified a heterozygous frameshift novel variant (c.25delC, p.(Arg9Glyfs*9)) in the\n                      <jats:italic>AIP<\/jats:italic>\n                      \u00a0gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0148_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Although\n                      <jats:italic>AIP<\/jats:italic>\n                      mutation-positive cases are typically resistant to SSAs, our patient carrying a novel\n                      <jats:italic>AIP<\/jats:italic>\n                      variant demonstrated a favorable response to SSA treatment.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0148","type":"journal-article","created":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T12:55:43Z","timestamp":1753188943000},"page":"1103-1110","source":"Crossref","is-referenced-by-count":1,"title":["Surgical treatment and somatostatin experience in growth hormone-secreting pituitary macroadenoma due to novel\n                    <i>AIP<\/i>\n                    mutation"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-5993-6834","authenticated-orcid":false,"given":"K\u0131ymet","family":"Karag\u00f6z","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Ankara Etlik City Hospital Pediatric Endocrinolgy Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emine \u015eeyma","family":"Eken","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Ankara Etlik City Hospital Pediatric Endocrinolgy Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclin","family":"Karacan K\u00fc\u00e7\u00fckali","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Ankara Etlik City Hospital Pediatric Endocrinolgy Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammed Erkan","family":"Emraho\u011flu","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Neurosurgery Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duygu","family":"D\u00fczcan Kilimci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Mersin City Hospital Pediatric Endocrinolgy Clinic , Mersin City Hospital , Mersin , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melik\u015fah","family":"Keskin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Ankara Etlik City Hospital Pediatric Endocrinolgy Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"},{"name":"University of Health Sciences , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdal","family":"Kurnaz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Ankara Etlik City Hospital Pediatric Endocrinolgy Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"},{"name":"University of Health Sciences , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keziban Asl\u0131","family":"Bala","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Ankara Etlik City Hospital Pediatric Endocrinolgy Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"},{"name":"University of Health Sciences , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015eule","family":"Ye\u015fil","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Pediatric Oncology Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015e\u00fckriye","family":"Y\u0131lmaz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, Radiology Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Sezer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Genetic Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015eenay","family":"Sava\u015f Erdeve","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Ankara Etlik City Hospital Pediatric Endocrinolgy Clinic , Ankara Etlik City Hospital , Ankara , T\u00fcrkiye"},{"name":"University of Health Sciences , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,7,23]]},"reference":[{"key":"2025111210012229388_j_jpem-2025-0148_ref_001","doi-asserted-by":"crossref","unstructured":"Korbonits, M, Blair, JC, Boguslawska, A, Ayuk, J, Davies, JH, Druce, MR, et al.. 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