{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T08:08:39Z","timestamp":1790842119156,"version":"4.1.0"},"reference-count":29,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T00:00:00Z","timestamp":1558656000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"UKIERI and the British Council","award":["75-2014"],"award-info":[{"award-number":["75-2014"]}]},{"name":"Bioinformatics National Certification (BINC) Junior Research Fellowship, Department of Biotechnology, Government of India"},{"name":"Research Associate Fellowship from the Department of Biotechnology, Government of India"},{"name":"Council of Scientific and Industrial Research, University Grants Commission","award":["2061330632"],"award-info":[{"award-number":["2061330632"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>Inactivating germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene are linked to pituitary adenoma predisposition. Here, we present the youngest known patient with AIP-related pituitary adenoma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Description<\/jats:title><jats:p>The patient presented at the age of 4 years with pituitary apoplexy and left ptosis with severe visual loss following a 1-year history of abdominal pain, headaches, and rapid growth. His IGF-1 level was 5\u00d7 the upper limit of normal, and his random GH level was 1200 ng\/mL. MRI showed a 43 \u00d7 24 \u00d7 35\u2012mm adenoma with suprasellar extension invading the left cavernous sinus (Knosp grade 4). After transsphenoidal surgery, histology showed a grade 2A sparsely granulated somatotropinoma with negative O6-methylguanine-DNA methyltransferase and positive vascular endothelial growth factor staining. Genetic testing identified a heterozygous germline nonsense AIP mutation (p.Arg81Ter). Exome sequencing of the tumor revealed that it had lost the entire maternal chromosome-11, rendering it hemizygous for chromosome-11 and therefore lacking functional copies of AIP in the tumor. He was started on octreotide, but because the tumor rapidly regrew and IGF-1 levels were unchanged, temozolomide was initiated, and intensity-modulated radiotherapy was administered 5 months after surgery. Two months later, bevacizumab was added, resulting in excellent tumor response. Although these treatments stabilized tumor growth over 4 years, IGF-1 was normalized only after pegvisomant treatment, although access to this medication was intermittent. At 3.5 years of follow-up, gamma knife treatment was administered, and pegvisomant dose increase was indicated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Multimodal treatment with surgery, long-acting octreotide, radiotherapy, temozolomide, bevacizumab, and pegvisomant can control genetically driven, aggressive, childhood-onset somatotropinomas.<\/jats:p><\/jats:sec>","DOI":"10.1210\/jc.2019-00432","type":"journal-article","created":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T13:10:50Z","timestamp":1558703450000},"page":"3539-3544","source":"Crossref","is-referenced-by-count":58,"title":["Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation\u2012Positive Child"],"prefix":"10.1210","volume":"104","author":[{"given":"Pinaki","family":"Dutta","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Postgraduate Institution of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kavita S","family":"Reddy","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics, International Tech Park, Bangalore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashutosh","family":"Rai","sequence":"additional","affiliation":[{"name":"Department of Translational and Regenerative Medicine, Postgraduate Institution of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anil K","family":"Madugundu","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Division of Proteomics, Mayo Clinic, Rochester, Minnesota"},{"name":"Manipal Academy of Higher Education, Manipal, Karnataka, India"},{"name":"Center for Individualized Medicine and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitendra S","family":"Solanki","sequence":"additional","affiliation":[{"name":"Department of Translational and Regenerative Medicine, Postgraduate Institution of Medical Education and Research, Chandigarh, India"},{"name":"School of Biotechnology, KIIT University, Bhubaneswar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anil","family":"Bhansali","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Postgraduate Institution of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bishan D","family":"Radotra","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Postgraduate Institution of Medical Education and Research, Chandigarh, 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