Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil
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 char...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Trarbach, Ericka B. [verfasserIn] Trivellin, Giampaolo [verfasserIn] Grande, Isabella P. P. [verfasserIn] Duarte, Felipe H. G. [verfasserIn] Jorge, Alexander A. L. [verfasserIn] do Nascimento, Felipe Barjud Pereira [verfasserIn] Garmes, Heraldo M. [verfasserIn] Nery, Marcia [verfasserIn] Mendonca, Berenice B. [verfasserIn] Stratakis, Constantine A. [verfasserIn] Bronstein, Marcello D. [verfasserIn] Jallad, Raquel S. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2020 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Pituitary - Dordrecht [u.a.] : Springer Science + Business Media B.V, 1998, 24(2020), 2 vom: 06. Nov., Seite 252-261 |
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| Übergeordnetes Werk: |
volume:24 ; year:2020 ; number:2 ; day:06 ; month:11 ; pages:252-261 |
| Links: |
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| DOI / URN: |
10.1007/s11102-020-01105-4 |
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| Katalog-ID: |
SPR043519822 |
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| 520 | |a 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. | ||
| 650 | 4 | |a Pituitary gigantism |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Outcome |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Prognosis |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Trivellin, Giampaolo |e verfasserin |4 aut | |
| 700 | 1 | |a Grande, Isabella P. P. |e verfasserin |4 aut | |
| 700 | 1 | |a Duarte, Felipe H. G. |e verfasserin |4 aut | |
| 700 | 1 | |a Jorge, Alexander A. L. |e verfasserin |4 aut | |
| 700 | 1 | |a do Nascimento, Felipe Barjud Pereira |e verfasserin |4 aut | |
| 700 | 1 | |a Garmes, Heraldo M. |e verfasserin |4 aut | |
| 700 | 1 | |a Nery, Marcia |e verfasserin |4 aut | |
| 700 | 1 | |a Mendonca, Berenice B. |e verfasserin |4 aut | |
| 700 | 1 | |a Stratakis, Constantine A. |e verfasserin |4 aut | |
| 700 | 1 | |a Bronstein, Marcello D. |e verfasserin |4 aut | |
| 700 | 1 | |a Jallad, Raquel S. |e verfasserin |4 aut | |
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10.1007/s11102-020-01105-4 doi (DE-627)SPR043519822 (DE-599)SPRs11102-020-01105-4-e (SPR)s11102-020-01105-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.89 bkl Trarbach, Ericka B. verfasserin aut Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Pituitary gigantism (dpeaa)DE-He213 Outcome (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Trivellin, Giampaolo verfasserin aut Grande, Isabella P. P. verfasserin aut Duarte, Felipe H. G. verfasserin aut Jorge, Alexander A. L. verfasserin aut do Nascimento, Felipe Barjud Pereira verfasserin aut Garmes, Heraldo M. verfasserin aut Nery, Marcia verfasserin aut Mendonca, Berenice B. verfasserin aut Stratakis, Constantine A. verfasserin aut Bronstein, Marcello D. verfasserin aut Jallad, Raquel S. verfasserin aut Enthalten in Pituitary Dordrecht [u.a.] : Springer Science + Business Media B.V, 1998 24(2020), 2 vom: 06. Nov., Seite 252-261 (DE-627)320473007 (DE-600)2008775-5 1573-7403 nnns volume:24 year:2020 number:2 day:06 month:11 pages:252-261 https://dx.doi.org/10.1007/s11102-020-01105-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.89 ASE AR 24 2020 2 06 11 252-261 |
| spelling |
10.1007/s11102-020-01105-4 doi (DE-627)SPR043519822 (DE-599)SPRs11102-020-01105-4-e (SPR)s11102-020-01105-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.89 bkl Trarbach, Ericka B. verfasserin aut Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Pituitary gigantism (dpeaa)DE-He213 Outcome (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Trivellin, Giampaolo verfasserin aut Grande, Isabella P. P. verfasserin aut Duarte, Felipe H. G. verfasserin aut Jorge, Alexander A. L. verfasserin aut do Nascimento, Felipe Barjud Pereira verfasserin aut Garmes, Heraldo M. verfasserin aut Nery, Marcia verfasserin aut Mendonca, Berenice B. verfasserin aut Stratakis, Constantine A. verfasserin aut Bronstein, Marcello D. verfasserin aut Jallad, Raquel S. verfasserin aut Enthalten in Pituitary Dordrecht [u.a.] : Springer Science + Business Media B.V, 1998 24(2020), 2 vom: 06. Nov., Seite 252-261 (DE-627)320473007 (DE-600)2008775-5 1573-7403 nnns volume:24 year:2020 number:2 day:06 month:11 pages:252-261 https://dx.doi.org/10.1007/s11102-020-01105-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.89 ASE AR 24 2020 2 06 11 252-261 |
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10.1007/s11102-020-01105-4 doi (DE-627)SPR043519822 (DE-599)SPRs11102-020-01105-4-e (SPR)s11102-020-01105-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.89 bkl Trarbach, Ericka B. verfasserin aut Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Pituitary gigantism (dpeaa)DE-He213 Outcome (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Trivellin, Giampaolo verfasserin aut Grande, Isabella P. P. verfasserin aut Duarte, Felipe H. G. verfasserin aut Jorge, Alexander A. L. verfasserin aut do Nascimento, Felipe Barjud Pereira verfasserin aut Garmes, Heraldo M. verfasserin aut Nery, Marcia verfasserin aut Mendonca, Berenice B. verfasserin aut Stratakis, Constantine A. verfasserin aut Bronstein, Marcello D. verfasserin aut Jallad, Raquel S. verfasserin aut Enthalten in Pituitary Dordrecht [u.a.] : Springer Science + Business Media B.V, 1998 24(2020), 2 vom: 06. Nov., Seite 252-261 (DE-627)320473007 (DE-600)2008775-5 1573-7403 nnns volume:24 year:2020 number:2 day:06 month:11 pages:252-261 https://dx.doi.org/10.1007/s11102-020-01105-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.89 ASE AR 24 2020 2 06 11 252-261 |
| allfieldsGer |
10.1007/s11102-020-01105-4 doi (DE-627)SPR043519822 (DE-599)SPRs11102-020-01105-4-e (SPR)s11102-020-01105-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.89 bkl Trarbach, Ericka B. verfasserin aut Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Pituitary gigantism (dpeaa)DE-He213 Outcome (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Trivellin, Giampaolo verfasserin aut Grande, Isabella P. P. verfasserin aut Duarte, Felipe H. G. verfasserin aut Jorge, Alexander A. L. verfasserin aut do Nascimento, Felipe Barjud Pereira verfasserin aut Garmes, Heraldo M. verfasserin aut Nery, Marcia verfasserin aut Mendonca, Berenice B. verfasserin aut Stratakis, Constantine A. verfasserin aut Bronstein, Marcello D. verfasserin aut Jallad, Raquel S. verfasserin aut Enthalten in Pituitary Dordrecht [u.a.] : Springer Science + Business Media B.V, 1998 24(2020), 2 vom: 06. Nov., Seite 252-261 (DE-627)320473007 (DE-600)2008775-5 1573-7403 nnns volume:24 year:2020 number:2 day:06 month:11 pages:252-261 https://dx.doi.org/10.1007/s11102-020-01105-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.89 ASE AR 24 2020 2 06 11 252-261 |
| allfieldsSound |
10.1007/s11102-020-01105-4 doi (DE-627)SPR043519822 (DE-599)SPRs11102-020-01105-4-e (SPR)s11102-020-01105-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.89 bkl Trarbach, Ericka B. verfasserin aut Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Pituitary gigantism (dpeaa)DE-He213 Outcome (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Trivellin, Giampaolo verfasserin aut Grande, Isabella P. P. verfasserin aut Duarte, Felipe H. G. verfasserin aut Jorge, Alexander A. L. verfasserin aut do Nascimento, Felipe Barjud Pereira verfasserin aut Garmes, Heraldo M. verfasserin aut Nery, Marcia verfasserin aut Mendonca, Berenice B. verfasserin aut Stratakis, Constantine A. verfasserin aut Bronstein, Marcello D. verfasserin aut Jallad, Raquel S. verfasserin aut Enthalten in Pituitary Dordrecht [u.a.] : Springer Science + Business Media B.V, 1998 24(2020), 2 vom: 06. Nov., Seite 252-261 (DE-627)320473007 (DE-600)2008775-5 1573-7403 nnns volume:24 year:2020 number:2 day:06 month:11 pages:252-261 https://dx.doi.org/10.1007/s11102-020-01105-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.89 ASE AR 24 2020 2 06 11 252-261 |
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Enthalten in Pituitary 24(2020), 2 vom: 06. Nov., Seite 252-261 volume:24 year:2020 number:2 day:06 month:11 pages:252-261 |
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Enthalten in Pituitary 24(2020), 2 vom: 06. Nov., Seite 252-261 volume:24 year:2020 number:2 day:06 month:11 pages:252-261 |
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Trarbach, Ericka B. @@aut@@ Trivellin, Giampaolo @@aut@@ Grande, Isabella P. P. @@aut@@ Duarte, Felipe H. G. @@aut@@ Jorge, Alexander A. L. @@aut@@ do Nascimento, Felipe Barjud Pereira @@aut@@ Garmes, Heraldo M. @@aut@@ Nery, Marcia @@aut@@ Mendonca, Berenice B. @@aut@@ Stratakis, Constantine A. @@aut@@ Bronstein, Marcello D. @@aut@@ Jallad, Raquel S. @@aut@@ |
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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. 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|
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Trarbach, Ericka B. |
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Trarbach, Ericka B. ddc 610 bkl 44.89 misc Pituitary gigantism misc Outcome misc Prognosis Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil |
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610 ASE 44.89 bkl Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil Pituitary gigantism (dpeaa)DE-He213 Outcome (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 |
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ddc 610 bkl 44.89 misc Pituitary gigantism misc Outcome misc Prognosis |
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ddc 610 bkl 44.89 misc Pituitary gigantism misc Outcome misc Prognosis |
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Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil |
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Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil |
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Trarbach, Ericka B. |
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Trarbach, Ericka B. Trivellin, Giampaolo Grande, Isabella P. P. Duarte, Felipe H. G. Jorge, Alexander A. L. do Nascimento, Felipe Barjud Pereira Garmes, Heraldo M. Nery, Marcia Mendonca, Berenice B. Stratakis, Constantine A. Bronstein, Marcello D. Jallad, Raquel S. |
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Trarbach, Ericka B. |
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10.1007/s11102-020-01105-4 |
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genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from sao paulo, brazil |
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Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil |
| abstract |
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. |
| abstractGer |
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. |
| abstract_unstemmed |
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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Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil |
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Trivellin, Giampaolo Grande, Isabella P. P. Duarte, Felipe H. G. Jorge, Alexander A. L. do Nascimento, Felipe Barjud Pereira Garmes, Heraldo M. Nery, Marcia Mendonca, Berenice B. Stratakis, Constantine A. Bronstein, Marcello D. Jallad, Raquel S. |
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| score |
7.4000244 |