{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:51:06Z","timestamp":1747198266716,"version":"3.40.5"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Pituitary gigantism is a rare condition and it often has an identifiable genetic cause. In this article we report a case of a young girl with pituitary gigantism and two genetic changes.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n A 15-year-old girl with primary amenorrhea was diagnosed with a growth hormone (GH) and prolactin (PRL)-producing tumor, needing surgery and medical treatment with octreotide in order to achieve disease control. The co-occurrence of an\u00a0AIP<\/jats:italic>\u00a0mutation and a\u00a0MEN1<\/jats:italic>\u00a0variant of uncertain significance was demonstrated in this patient. The germline mutation involving\u00a0AIP<\/jats:italic>\u00a0was inherited from her father who at the age of 55 was unaffected and the\u00a0MEN1<\/jats:italic>\u00a0variant was a\u00a0de novo<\/jats:italic>\u00a0duplication of the region 11q13.1. The latter variant, not previously reported, is unlikely to be pathogenic. Nonetheless, screening for other components of multiple endocrine neoplasia type 1 (MEN1) was performed and proved negative.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n The rare co-occurrence of an\u00a0AIP<\/jats:italic>\u00a0mutation and a\u00a0MEN 1<\/jats:italic>\u00a0variant of uncertain significance was demonstrated in this patient.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2022-0488","type":"journal-article","created":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T08:20:33Z","timestamp":1672820433000},"source":"Crossref","is-referenced-by-count":0,"title":["Pediatric growth hormone and prolactin-secreting tumor associated with an AIP<\/i> mutation and a MEN1<\/i> variant of uncertain significance"],"prefix":"10.1515","volume":"0","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3118-0134","authenticated-orcid":false,"given":"Maria In\u00eas","family":"Alexandre","sequence":"first","affiliation":[{"name":"Endocrinology Department , Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio de Lisboa Norte , Lisbon , Portugal"}]},{"given":"Claudia C.","family":"Faria","sequence":"additional","affiliation":[{"name":"Neurosurgery Department , Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio de Lisboa Norte , Lisbon , Portugal"},{"name":"Faculdade de Medicina da Universidade de Lisboa , Lisbon , Portugal"}]},{"given":"Ana","family":"Gomes","sequence":"additional","affiliation":[{"name":"Endocrinology Department , Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio de Lisboa Norte , Lisbon , Portugal"},{"name":"Faculdade de Medicina da Universidade de Lisboa , Lisbon , Portugal"}]},{"given":"Maria Jo\u00e3o","family":"Bugalho","sequence":"additional","affiliation":[{"name":"Endocrinology Department , Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio de Lisboa Norte , Lisbon , Portugal"},{"name":"Faculdade de Medicina da Universidade de Lisboa , Lisbon , Portugal"}]}],"member":"374","published-online":{"date-parts":[[2023,1,5]]},"reference":[{"key":"2023010408202623092_j_jpem-2022-0488_ref_001","doi-asserted-by":"crossref","unstructured":"Keil, MF, Stratakis, CA, Pituitary tumors in childhood: update of diagnosis, treatment and molecular genetics. Expert Rev Neurother 2008;8:563\u201374. https:\/\/doi.org\/10.1586\/14737175.8.4.563.","DOI":"10.1586\/14737175.8.4.563"},{"key":"2023010408202623092_j_jpem-2022-0488_ref_002","doi-asserted-by":"crossref","unstructured":"Beckers, A, Petrossians, P, Hanson, J, Daly, AF. The causes and consequences of pituitary gigantism. Nat Rev Endocrinol 2018;14:705\u201320. https:\/\/doi.org\/10.1038\/s41574-018-0114-1.","DOI":"10.1038\/s41574-018-0114-1"},{"key":"2023010408202623092_j_jpem-2022-0488_ref_003","doi-asserted-by":"crossref","unstructured":"Rostomyan, L, Daly, AF, Beckers, A. Pituitary gigantism: causes and clinical characteristics. Ann Endocrinol 2015;76:643\u20139. https:\/\/doi.org\/10.1016\/j.ando.2015.10.002.","DOI":"10.1016\/j.ando.2015.10.002"},{"key":"2023010408202623092_j_jpem-2022-0488_ref_004","doi-asserted-by":"crossref","unstructured":"Bogus\u0142awska, A, Korbonits, M. Genetics of acromegaly and gigantism. J\u00a0Clin Med 2021;10:1377. https:\/\/doi.org\/10.3390\/jcm10071377.","DOI":"10.3390\/jcm10071377"},{"key":"2023010408202623092_j_jpem-2022-0488_ref_005","doi-asserted-by":"crossref","unstructured":"Beckers, A, Aaltonen, LA, Daly, AF, Karhu, A. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev 2013;34:23\u201377. https:\/\/doi.org\/10.1210\/er.2012-1013.","DOI":"10.1210\/er.2012-1013"},{"key":"2023010408202623092_j_jpem-2022-0488_ref_006","doi-asserted-by":"crossref","unstructured":"Mangupli, R, Rostomyan, L, Castermans, E, Caberg, JH, Camperos, P, Krivoy, J, et al.. Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening. Pituitary 2016;19:507\u201314. https:\/\/doi.org\/10.1007\/s11102-016-0732-3.","DOI":"10.1007\/s11102-016-0732-3"},{"key":"2023010408202623092_j_jpem-2022-0488_ref_007","doi-asserted-by":"crossref","unstructured":"Nagata, Y, Inoshita, N, Fukuhara, N, Yamaguchi-Okada, M, Nishioka, H, Iwata, T, et al.. Growth hormone-producing pituitary adenomas in childhood and young adulthood: clinical features and outcomes. Pituitary 2018;21:1\u20139. https:\/\/doi.org\/10.1007\/s11102-017-0836-4.","DOI":"10.1007\/s11102-017-0836-4"},{"key":"2023010408202623092_j_jpem-2022-0488_ref_008","doi-asserted-by":"crossref","unstructured":"Ib\u00e1\u00f1ez-Costa, A, Korbonits, M. AIP and the somatostatin system in pituitary tumours. J Endocrinol 2017;235:R101\u201316. https:\/\/doi.org\/10.1530\/JOE-17-0254.","DOI":"10.1530\/JOE-17-0254"},{"key":"2023010408202623092_j_jpem-2022-0488_ref_009","doi-asserted-by":"crossref","unstructured":"Joshi, K, Daly, AF, Beckers, A, Zacharin, M. Resistant paediatric somatotropinomas due to AIP mutations: role of pegvisomant. Horm Res Paediatr 2018;90:196\u2013202. https:\/\/doi.org\/10.1159\/000488856.","DOI":"10.1159\/000488856"},{"key":"2023010408202623092_j_jpem-2022-0488_ref_010","doi-asserted-by":"crossref","unstructured":"Melo, FMDE, Bastos-Rodrigues, L, Sarquis, MM, Friedman, E, DE Marco, L. Co-Occurrence of MEN1 p.Gly111fs and AIP p.Arg16His variants in familial MEN1 phenotype. 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