دورية أكاديمية
Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil.
| العنوان: | Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil. |
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| المؤلفون: | Trarbach EB; Laboratorio de Endocrinologia Celular E Molecular/LIM25, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.; Unidade de Neuroendocrinologia, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Eneas de Carvalho Aguiar, 155, PAMB, 8 andar, São Paulo, SP, CEP 05403-010, Brazil., Trivellin G; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.; Endocrinology Unit and Laboratory of Cellular and Molecular Endocrinology, Humanitas Clinical and Research Center-IRCCS, Rozzano, MI, Italy., Grande IPP; Laboratorio de Endocrinologia Celular E Molecular/LIM25, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil., Duarte FHG; Unidade de Neuroendocrinologia, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Eneas de Carvalho Aguiar, 155, PAMB, 8 andar, São Paulo, SP, CEP 05403-010, Brazil., Jorge AAL; Laboratorio de Endocrinologia Celular E Molecular/LIM25, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil., do Nascimento FBP; Faculdade de Medicina, Instituto de Radiologia, Hospital das Clinicas HCFMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.; Departamento de Radiologia E Diagnóstico Por Imagem, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Garmes HM; Divisao de Endocrinologia, Departamento de Clinica Medica, Faculdade de Ciencias Medicas da Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brazil., Nery M; Unidade de Diabetes, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil., Mendonca BB; Unidade de Endocrinologia Do Desenvolvimento, Laboratorio de Hormonios E Genetica Molecular/LIM42, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil., Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA., Bronstein MD; Unidade de Neuroendocrinologia, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Eneas de Carvalho Aguiar, 155, PAMB, 8 andar, São Paulo, SP, CEP 05403-010, Brazil., Jallad RS; Laboratorio de Endocrinologia Celular E Molecular/LIM25, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil. raquel.jallad@hc.fm.usp.br.; Unidade de Neuroendocrinologia, Disciplina de Endocrinologia, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Eneas de Carvalho Aguiar, 155, PAMB, 8 andar, São Paulo, SP, CEP 05403-010, Brazil. raquel.jallad@hc.fm.usp.br. |
| المصدر: | Pituitary [Pituitary] 2021 Apr; Vol. 24 (2), pp. 252-261. Date of Electronic Publication: 2020 Nov 06. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Kluwer Academic Publishers Country of Publication: United States NLM ID: 9814578 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7403 (Electronic) Linking ISSN: 1386341X NLM ISO Abbreviation: Pituitary Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Norwell, MA : Kluwer Academic Publishers, 1998- |
| مواضيع طبية MeSH: | Gigantism/*genetics , Gigantism/*pathology, Adolescent ; Adult ; Brazil ; Child ; Comparative Genomic Hybridization ; Female ; Genetic Testing ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Magnetic Resonance Imaging ; Male ; Pituitary Neoplasms/genetics ; Pituitary Neoplasms/pathology ; Receptors, G-Protein-Coupled/genetics ; Young Adult |
| مستخلص: | Purpose: Non-syndromic pituitary gigantism (PG) is a very rare disease. Aryl hydrocarbon receptor-interacting protein (AIP) and G protein-coupled receptor 101 (GPR101) genetic abnormalities represent important etiologic causes of PG and may account for up to 40% of these cases. Here, we aimed to characterize the clinical and molecular findings and long-term outcomes in 18 patients (15 males, three females) with PG followed at a single tertiary center in Sao Paulo, Brazil. Methods: Genetic testing for AIP and GPR101 were performed by DNA sequencing, droplet digital PCR and array comparative genomic hybridization (aCGH). Results: Pathogenic variants in the AIP gene were detected in 25% of patients, including a novel variant in splicing regulatory sequences which was present in a sporadic male case. X-LAG due to GPR101 microduplication was diagnosed in two female patients (12.5%). Of interest, these patients had symptoms onset by age 5 and 9 years old and diagnosis at 5 and 15 years, respectively. X-LAG, but not AIP, patients had a significantly lower age of symptoms onset and diagnosis and a higher height Z-score when compared to non-X-LAG. No other differences in clinical features and/or treatment outcomes were observed among PG based on their genetic background. Conclusion: We characterize the clinical and molecular findings and long-term outcome of the largest single-center PG cohort described so far. |
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| فهرسة مساهمة: | Keywords: AIP; GPR101; Outcome; Pituitary gigantism; Prognosis |
| المشرفين على المادة: | 0 (GPR101 protein, human) 0 (Intracellular Signaling Peptides and Proteins) 0 (Receptors, G-Protein-Coupled) 0 (aryl hydrocarbon receptor-interacting protein) |
| تواريخ الأحداث: | Date Created: 20201106 Date Completed: 20211104 Latest Revision: 20211104 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1007/s11102-020-01105-4 |
| PMID: | 33156432 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1573-7403 |
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| DOI: | 10.1007/s11102-020-01105-4 |