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Complicated Clinical Course in Incipient Gigantism Due to Treatment-resistant Aryl Hydrocarbon Receptor-Interacting Protein-mutated Pediatric Somatotropinoma.

التفاصيل البيبلوغرافية
العنوان: Complicated Clinical Course in Incipient Gigantism Due to Treatment-resistant Aryl Hydrocarbon Receptor-Interacting Protein-mutated Pediatric Somatotropinoma.
المؤلفون: van Santen SS; Department of Internal Medicine, Endocrinology; Erasmus Medical Center, Rotterdam, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Daly AF; Department of Endocrinology, Liège University Hospital Centre, Liège University, Avenue de L'hopital, Liège, Belgium., Buchfelder M; Department of Neurosurgery; University Hospital Erlangen, Erlangen, Germany., Coras R; Department of Neuropathology; University Hospital Erlangen, Erlangen, Germany., Zhao Y; Department of Neurosurgery; University Hospital Erlangen, Erlangen, Germany., Beckers A; Department of Endocrinology, Liège University Hospital Centre, Liège University, Avenue de L'hopital, Liège, Belgium., van der Lely AJ; Department of Internal Medicine, Endocrinology; Erasmus Medical Center, Rotterdam, The Netherlands., Hofland LJ; Department of Internal Medicine, Endocrinology; Erasmus Medical Center, Rotterdam, The Netherlands., Balvers RK; Department of Neurosurgery; Erasmus Medical Center, Rotterdam, The Netherlands., van Koetsveld P; Department of Internal Medicine, Endocrinology; Erasmus Medical Center, Rotterdam, The Netherlands., van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Neggers SJCMM; Department of Internal Medicine, Endocrinology; Erasmus Medical Center, Rotterdam, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
المصدر: AACE clinical case reports [AACE Clin Case Rep] 2021 Dec 16; Vol. 8 (3), pp. 119-123. Date of Electronic Publication: 2021 Dec 16 (Print Publication: 2022).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101670593 Publication Model: eCollection Cited Medium: Internet ISSN: 2376-0605 (Electronic) Linking ISSN: 23760605 NLM ISO Abbreviation: AACE Clin Case Rep Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: 2021- : [New York] : Elsevier Inc.
Original Publication: Jacksonville, FL : American Association of Clinical Endocrinologists, [2015]-
مستخلص: Background: Our objective was to describe the clinical course and treatment challenges in a very young patient with a pituitary adenoma due to a novel aryl hydrocarbon receptor-interacting protein (AIP) gene mutation, highlighting the limitations of somatostatin receptor immunohistochemistry to predict clinical responses to somatostatin analogs in acromegaly.
Case Report: We report the case of a 7-year-old boy presenting with headache, visual field defects, and accelerated growth following failure to thrive. The laboratory results showed high insulin-like growth factor I (IGF-I) (standardised deviation scores ( +3.49) and prolactin levels (0.5 nmol/L), and magnetic resonance imaging identified a pituitary macroadenoma. Tumoral/hormonal control could not be achieved despite 3 neurosurgical procedures, each time with apparent total resection or with lanreotide or pasireotide. IGF-I levels decreased with the GH receptor antagonist pegvisomant. The loss of somatostatin receptor 5 was observed between the second and third tumor resection. In vitro, no effect on tumoral GH release by pasireotide (with/without cabergoline) was observed. Genetic analysis revealed a novel germline AIP mutation: p.Tyr202∗ (pathogenic; class 4).
Discussion: In vitro response of tumor tissue to somatostatin may better predict tumoral in vivo responses of somatostatin analogs than somatostatin receptor immunohistochemistry.
Conclusion: We identified a novel pathologic AIP mutation that was associated with incipient acrogigantism in an extremely young patient who had a complicated course of disease. Growth acceleration can be masked due to failure to thrive. Tumoral growth hormone release in vivo may be predicted with in vitro exposure to somatostatin receptor analogs, as it cannot be assumed that all AIP -mutated somatotropinomas respond well to pasireotide.
(© 2021 AACE. Published by Elsevier Inc.)
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فهرسة مساهمة: Keywords: AIP mutation; AIP, aryl hydrocarbon receptor–interacting protein; GH, growth hormone; IGF-I, insulin-like growth factor I; LAR, long-acting release; NR, normal range; SDS, standardised deviation scores; SSA, somatostatin analog; SSTR, somatostatin receptor; acromegaly; gigantism; macroadenoma; pituitary adenoma; somatotropinoma
تواريخ الأحداث: Date Created: 20220523 Latest Revision: 20220524
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC9123570
DOI: 10.1016/j.aace.2021.12.003
PMID: 35602875
قاعدة البيانات: MEDLINE
الوصف
تدمد:2376-0605
DOI:10.1016/j.aace.2021.12.003