Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours
CONCLUSIONS: SF3B1 variants are uncommon in lactotroph tumours but may be frequent in metastatic lactotroph tumours. When present, they associate with aggressive tumour behaviour and worse clinical outcome.PMID:37721395 | DOI:10.1093/ejendo/lvad114 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 18, 2023 Category: Endocrinology Authors: Julia Simon Luis Gustavo Perez-Rivas Yining Zhao Fanny Chasseloup Helene Lasolle Christine Cortet Francoise Descotes Chiara Villa Bertrand Baussart Pia Burman Dominique Maiter Vivian von Selzam Roman Rotermund J örg Flitsch Jun Thorsteinsdottir Emmanuel Source Type: research
Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours
CONCLUSIONS: SF3B1 variants are uncommon in lactotroph tumours but may be frequent in metastatic lactotroph tumours. When present, they associate with aggressive tumour behaviour and worse clinical outcome.PMID:37721395 | DOI:10.1093/ejendo/lvad114 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 18, 2023 Category: Endocrinology Authors: Julia Simon Luis Gustavo Perez-Rivas Yining Zhao Fanny Chasseloup Helene Lasolle Christine Cortet Francoise Descotes Chiara Villa Bertrand Baussart Pia Burman Dominique Maiter Vivian von Selzam Roman Rotermund J örg Flitsch Jun Thorsteinsdottir Emmanuel Source Type: research
Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours
CONCLUSIONS: SF3B1 variants are uncommon in lactotroph tumours but may be frequent in metastatic lactotroph tumours. When present, they associate with aggressive tumour behaviour and worse clinical outcome.PMID:37721395 | DOI:10.1093/ejendo/lvad114 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 18, 2023 Category: Endocrinology Authors: Julia Simon Luis Gustavo Perez-Rivas Yining Zhao Fanny Chasseloup Helene Lasolle Christine Cortet Francoise Descotes Chiara Villa Bertrand Baussart Pia Burman Dominique Maiter Vivian von Selzam Roman Rotermund J örg Flitsch Jun Thorsteinsdottir Emmanuel Source Type: research
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families
CONCLUSION: The c.1998delinsTTCT- variant in the RET gene is pathogenic and associated with a moderate risk for medullary thyroid carcinoma and rarely with other MEN2A manifestations. Active surveillance is a possible option in heterozygous gene carriers with a negative first clinical evaluation.PMID:37713609 | DOI:10.1093/ejendo/lvad126 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 15, 2023 Category: Endocrinology Authors: Axelle Vuylsteke Laurens Hannes Hilde Brems Koen Devis Marleen Renard Anne Uyttebroeck Eric Legius Brigitte Decallonne Source Type: research
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families
CONCLUSION: The c.1998delinsTTCT- variant in the RET gene is pathogenic and associated with a moderate risk for medullary thyroid carcinoma and rarely with other MEN2A manifestations. Active surveillance is a possible option in heterozygous gene carriers with a negative first clinical evaluation.PMID:37713609 | DOI:10.1093/ejendo/lvad126 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 15, 2023 Category: Endocrinology Authors: Axelle Vuylsteke Laurens Hannes Hilde Brems Koen Devis Marleen Renard Anne Uyttebroeck Eric Legius Brigitte Decallonne Source Type: research
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families
CONCLUSION: The c.1998delinsTTCT- variant in the RET gene is pathogenic and associated with a moderate risk for medullary thyroid carcinoma and rarely with other MEN2A manifestations. Active surveillance is a possible option in heterozygous gene carriers with a negative first clinical evaluation.PMID:37713609 | DOI:10.1093/ejendo/lvad126 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 15, 2023 Category: Endocrinology Authors: Axelle Vuylsteke Laurens Hannes Hilde Brems Koen Devis Marleen Renard Anne Uyttebroeck Eric Legius Brigitte Decallonne Source Type: research
Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels
CONCLUSIONS: Novel loss-of-function mutations in DLK1 gene were identified in two French girls with CPP. Additionally, we demonstrated a pattern of dynamic changes in circulating DLK1 serum levels in humans and mice during pubertal stages, reinforcing the role of this factor in pubertal timing.PMID:37703313 | DOI:10.1093/ejendo/lvad129 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 13, 2023 Category: Endocrinology Authors: Luciana Montenegro Carlos Seraphim Fl ávia Tinano Maiara Piovesan Ana P M Canton Ken McElreavey Severine Brabant Natalia P Boris Melissa Magnuson Rona S Carroll Ursula B Kaiser Jes ús Argente Vicente Barrios Vinicius N Brito Raja Brauner Ana Claudia Lat Source Type: research
Early Puberty Suppression and Gender-Affirming Hormones do not Alter Final Height in Transgender Adolescents
CONCLUSION: ePS and GAH do not impact FH, supporting the safety of the treatment; however trans adolescents achieve a FH in line with SRAB, rather than EG.PMID:37703317 | DOI:10.1093/ejendo/lvad125 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 13, 2023 Category: Endocrinology Authors: Silvia Ciancia Daniel Klink Margarita Craen Martine Cools Source Type: research
Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels
CONCLUSIONS: Novel loss-of-function mutations in DLK1 gene were identified in two French girls with CPP. Additionally, we demonstrated a pattern of dynamic changes in circulating DLK1 serum levels in humans and mice during pubertal stages, reinforcing the role of this factor in pubertal timing.PMID:37703313 | DOI:10.1093/ejendo/lvad129 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 13, 2023 Category: Endocrinology Authors: Luciana Montenegro Carlos Seraphim Fl ávia Tinano Maiara Piovesan Ana P M Canton Ken McElreavey Severine Brabant Natalia P Boris Melissa Magnuson Rona S Carroll Ursula B Kaiser Jes ús Argente Vicente Barrios Vinicius N Brito Raja Brauner Ana Claudia Lat Source Type: research
Early Puberty Suppression and Gender-Affirming Hormones do not Alter Final Height in Transgender Adolescents
CONCLUSION: ePS and GAH do not impact FH, supporting the safety of the treatment; however trans adolescents achieve a FH in line with SRAB, rather than EG.PMID:37703317 | DOI:10.1093/ejendo/lvad125 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 13, 2023 Category: Endocrinology Authors: Silvia Ciancia Daniel Klink Margarita Craen Martine Cools Source Type: research
Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability
CONCLUSION: In conclusion, variants in genes related to the growth plate have a potential role as genetic modifiers of the phenotype in individuals with SHOX deficiency. In individuals with SHOX alterations restricted to the regulatory region, a second alteration could be critical to determine the penetrance and expression of the phenotype.PMID:37695807 | DOI:10.1093/ejendo/lvad128 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 11, 2023 Category: Endocrinology Authors: Naiara C B Dantas Mariana F A Funari Antonio M Ler ário Nathalia L M Andrade Ra íssa C Rezende Laurana P Cellin Cr ésio Alves Lindiane G Crisostomo Ivo J P Arnhold Berenice Mendonca Renata C Scalco Alexander A L Jorge Source Type: research
Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability
CONCLUSION: In conclusion, variants in genes related to the growth plate have a potential role as genetic modifiers of the phenotype in individuals with SHOX deficiency. In individuals with SHOX alterations restricted to the regulatory region, a second alteration could be critical to determine the penetrance and expression of the phenotype.PMID:37695807 | DOI:10.1093/ejendo/lvad128 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 11, 2023 Category: Endocrinology Authors: Naiara C B Dantas Mariana F A Funari Antonio M Ler ário Nathalia L M Andrade Ra íssa C Rezende Laurana P Cellin Cr ésio Alves Lindiane G Crisostomo Ivo J P Arnhold Berenice Mendonca Renata C Scalco Alexander A L Jorge Source Type: research
Early mortality critically impedes improvements in thyroid cancer survival through a half century
CONCLUSIONS: We documented worse relative survival in the first year than in the 4 subsequent years, most likely because of rare anaplastic cancer. Overall survival in thyroid cancer patients increased in the Nordic countries in the course of 50 years; 5-year survival was close to 90% for men and close to 95% for women. Even though overdiagnosis may explain some of 5-year survival increase, it is unlikely to influence the substantial increase in 1-year survival. The unmet need is to increase 1-year survival by diagnosing and treating aggressive tumors before metastatic spread.PMID:37675794 | DOI:10.1093/ejendo/lvad117 (Sou...
Source: European Journal of Endocrinology - September 7, 2023 Category: Endocrinology Authors: Filip Tichanek Asta F örsti Vaclv Liska Otto Hemminki Anni Koskinen Akseli Hemminki Kari Hemminki Source Type: research
Early mortality critically impedes improvements in thyroid cancer survival through a half century
CONCLUSIONS: We documented worse relative survival in the first year than in the 4 subsequent years, most likely because of rare anaplastic cancer. Overall survival in thyroid cancer patients increased in the Nordic countries in the course of 50 years; 5-year survival was close to 90% for men and close to 95% for women. Even though overdiagnosis may explain some of 5-year survival increase, it is unlikely to influence the substantial increase in 1-year survival. The unmet need is to increase 1-year survival by diagnosing and treating aggressive tumors before metastatic spread.PMID:37675794 | DOI:10.1093/ejendo/lvad117 (Sou...
Source: European Journal of Endocrinology - September 7, 2023 Category: Endocrinology Authors: Filip Tichanek Asta F örsti Vaclv Liska Otto Hemminki Anni Koskinen Akseli Hemminki Kari Hemminki Source Type: research
Early mortality critically impedes improvements in thyroid cancer survival through a half century
CONCLUSIONS: We documented worse relative survival in the first year than in the 4 subsequent years, most likely because of rare anaplastic cancer. Overall survival in thyroid cancer patients increased in the Nordic countries in the course of 50 years; 5-year survival was close to 90% for men and close to 95% for women. Even though overdiagnosis may explain some of 5-year survival increase, it is unlikely to influence the substantial increase in 1-year survival. The unmet need is to increase 1-year survival by diagnosing and treating aggressive tumors before metastatic spread.PMID:37675794 | DOI:10.1093/ejendo/lvad117 (Sou...
Source: European Journal of Endocrinology - September 7, 2023 Category: Endocrinology Authors: Filip Tichanek Asta F örsti Vaclv Liska Otto Hemminki Anni Koskinen Akseli Hemminki Kari Hemminki Source Type: research
