The natural history of 21-hydroxylase autoantibodies in autoimmune Addison's disease
CONCLUSION: 21OH-autoantibodies are reliable and robust markers for autoimmune Addison's disease, linked to HLA risk genotype. However, a negative test in patients with long disease duration does not exclude autoimmune aetiology.PMID:34665570 | PMC:PMC8052519 | DOI:10.1530/EJE-20-1268 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 19, 2021 Category: Endocrinology Authors: Anette Boe Wolff Lars Breivik Karl Ove Hufthammer Marianne Aardal Grytaas Eirik Bratland Eystein Sverre Husebye Bergithe Eikeland Oftedal Source Type: research

The natural history of 21-hydroxylase autoantibodies in autoimmune Addison's disease
CONCLUSION: 21OH-autoantibodies are reliable and robust markers for autoimmune Addison's disease, linked to HLA risk genotype. However, a negative test in patients with long disease duration does not exclude autoimmune aetiology.PMID:34665570 | PMC:PMC8052519 | DOI:10.1530/EJE-20-1268 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 19, 2021 Category: Endocrinology Authors: Anette Boe Wolff Lars Breivik Karl Ove Hufthammer Marianne Aardal Grytaas Eirik Bratland Eystein Sverre Husebye Bergithe Eikeland Oftedal Source Type: research

The natural history of 21-hydroxylase autoantibodies in autoimmune Addison's disease
CONCLUSION: 21OH-autoantibodies are reliable and robust markers for autoimmune Addison's disease, linked to HLA risk genotype. However, a negative test in patients with long disease duration does not exclude autoimmune aetiology.PMID:34665570 | DOI:10.1530/EJE-20-1268 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 19, 2021 Category: Endocrinology Authors: Anette Boe Wolff Lars Breivik Karl Ove Hufthammer Marianne Aardal Grytaas Eirik Bratland Eystein Sverre Husebye Bergithe Eikeland Oftedal Source Type: research

The natural history of 21-hydroxylase autoantibodies in autoimmune Addison's disease
CONCLUSION: 21OH-autoantibodies are reliable and robust markers for autoimmune Addison's disease, linked to HLA risk genotype. However, a negative test in patients with long disease duration does not exclude autoimmune aetiology.PMID:34665570 | DOI:10.1530/EJE-20-1268 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 19, 2021 Category: Endocrinology Authors: Anette Boe Wolff Lars Breivik Karl Ove Hufthammer Marianne Aardal Grytaas Eirik Bratland Eystein Sverre Husebye Bergithe Eikeland Oftedal Source Type: research

Biallelic CAV1 null variants induce Congenital Generalized Lipodystrophy with achalasia
CONCLUSIONS: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.PMID:34643546 | DOI:10.1530/EJE-21-0915 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 13, 2021 Category: Endocrinology Authors: Asuman Nur Karhan Jamila Zammouri Martine Auclair Emilie Capel Feramuz Demir Apayd ın Fehmi Ate ş Marie-Christine Verpont Jocelyne Magre Bruno F ève Olivier Lascols Yusuf Usta Isabelle J éru Corinne Vigouroux Source Type: research

Biallelic CAV1 null variants induce Congenital Generalized Lipodystrophy with achalasia
CONCLUSIONS: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.PMID:34643546 | DOI:10.1530/EJE-21-0915 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 13, 2021 Category: Endocrinology Authors: Asuman Nur Karhan Jamila Zammouri Martine Auclair Emilie Capel Feramuz Demir Apayd ın Fehmi Ate ş Marie-Christine Verpont Jocelyne Magre Bruno F ève Olivier Lascols Yusuf Usta Isabelle J éru Corinne Vigouroux Source Type: research

Biallelic CAV1 null variants induce Congenital Generalized Lipodystrophy with achalasia
CONCLUSIONS: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.PMID:34643546 | DOI:10.1530/EJE-21-0915 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 13, 2021 Category: Endocrinology Authors: Asuman Nur Karhan Jamila Zammouri Martine Auclair Emilie Capel Feramuz Demir Apayd ın Fehmi Ate ş Marie-Christine Verpont Jocelyne Magre Bruno F ève Olivier Lascols Yusuf Usta Isabelle J éru Corinne Vigouroux Source Type: research

Biallelic CAV1 null variants induce Congenital Generalized Lipodystrophy with achalasia
CONCLUSIONS: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.PMID:34643546 | DOI:10.1530/EJE-21-0915 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 13, 2021 Category: Endocrinology Authors: Asuman Nur Karhan Jamila Zammouri Martine Auclair Emilie Capel Feramuz Demir Apayd ın Fehmi Ate ş Marie-Christine Verpont Jocelyne Magre Bruno F ève Olivier Lascols Yusuf Usta Isabelle J éru Corinne Vigouroux Source Type: research

Biallelic CAV1 null variants induce Congenital Generalized Lipodystrophy with achalasia
CONCLUSIONS: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.PMID:34643546 | DOI:10.1530/EJE-21-0915 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 13, 2021 Category: Endocrinology Authors: Asuman Nur Karhan Jamila Zammouri Martine Auclair Emilie Capel Feramuz Demir Apayd ın Fehmi Ate ş Marie-Christine Verpont Jocelyne Magre Bruno F ève Olivier Lascols Yusuf Usta Isabelle J éru Corinne Vigouroux Source Type: research

Pituitary adenoma in patients with multiple endocrine neoplasia type 1 - a cohort study
CONCLUSION: PAs in patients with MEN1 are less aggressive than previously thought. Tumour progression is rare with standard of care monitoring and treatment, especially in related patients who mostly present non-secreting microadenoma. MRI monitoring for asymptomatic MEN1 patients should be reduced accordingly.PMID:34636744 | DOI:10.1530/EJE-21-0630 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 12, 2021 Category: Endocrinology Authors: Maelle Le Bras H élène Leclerc Olivia Rousseau Pierre Goudet Thomas Cuny Frederic Castinetti Catherine Bauters Philippe Chanson Antoine Tabarin Sebastien Gaujoux Sophie Christin-Maitre Philippe Ruszniewski Francoise Borson-Chazot Isabelle Guilhem Philip Source Type: research

Insulin resistance and risk of vascular events, interventions and mortality in type 1 diabetes
CONCLUSIONS: Insulin resistance as measured by eGDR is an additional risk factor for cardiovascular disease in individuals with type 1 diabetes. Modification of insulin resistance by lifestyle interventions or pharmacological treatment could be a viable therapeutic target to lower the risk of cardiovascular disease.PMID:34636745 | DOI:10.1530/EJE-21-0636 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 12, 2021 Category: Endocrinology Authors: Marga A G Helmink Marieke de Vries Frank L J Visseren Wendela L de Ranitz Harold W de Valk Jan Westerink Source Type: research

Pituitary adenoma in patients with multiple endocrine neoplasia type 1 - a cohort study
CONCLUSION: PAs in patients with MEN1 are less aggressive than previously thought. Tumour progression is rare with standard of care monitoring and treatment, especially in related patients who mostly present non-secreting microadenoma. MRI monitoring for asymptomatic MEN1 patients should be reduced accordingly.PMID:34636744 | DOI:10.1530/EJE-21-0630 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 12, 2021 Category: Endocrinology Authors: Maelle Le Bras H élène Leclerc Olivia Rousseau Pierre Goudet Thomas Cuny Frederic Castinetti Catherine Bauters Philippe Chanson Antoine Tabarin Sebastien Gaujoux Sophie Christin-Maitre Philippe Ruszniewski Francoise Borson-Chazot Isabelle Guilhem Philip Source Type: research

Insulin resistance and risk of vascular events, interventions and mortality in type 1 diabetes
CONCLUSIONS: Insulin resistance as measured by eGDR is an additional risk factor for cardiovascular disease in individuals with type 1 diabetes. Modification of insulin resistance by lifestyle interventions or pharmacological treatment could be a viable therapeutic target to lower the risk of cardiovascular disease.PMID:34636745 | DOI:10.1530/EJE-21-0636 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 12, 2021 Category: Endocrinology Authors: Marga A G Helmink Marieke de Vries Frank L J Visseren Wendela L de Ranitz Harold W de Valk Jan Westerink Source Type: research

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11
Conclusions Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation. These patients should be prioritised for genetic testing for KATP channel genes.PMID:34633981 | DOI:10.1530/EJE-21-0476 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 11, 2021 Category: Endocrinology Authors: Thomas I Hewat Daphne Yau Joseph C S Jerome Thomas W Laver Jayne A L Houghton Beverley M Shields Sarah E Flanagan Kashyap A Patel Source Type: research

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11
Conclusions Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation. These patients should be prioritised for genetic testing for KATP channel genes.PMID:34633981 | DOI:10.1530/EJE-21-0476 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 11, 2021 Category: Endocrinology Authors: Thomas I Hewat Daphne Yau Joseph C S Jerome Thomas W Laver Jayne A L Houghton Beverley M Shields Sarah E Flanagan Kashyap A Patel Source Type: research

Reply to: Comment on EUGOGO CLINICAL PRACTICE GUIDELINES
Eur J Endocrinol. 2021 Oct 6:EJE-21-0967. doi: 10.1530/EJE-21-0967. Online ahead of print.ABSTRACTN/A.PMID:34619658 | DOI:10.1530/EJE-21-0967 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 7, 2021 Category: Endocrinology Authors: George J Kahaly Luigi Bartalena Source Type: research

Comment on the 2021 EUGOGO Clinical Practice Guidelines for the Medical Management of Graves' Orbitopathy
Eur J Endocrinol. 2021 Oct 6:EJE-21-0861. doi: 10.1530/EJE-21-0861. Online ahead of print.ABSTRACTN/A.PMID:34619659 | DOI:10.1530/EJE-21-0861 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 7, 2021 Category: Endocrinology Authors: Terry J Smith Source Type: research

Reply to: Comment on EUGOGO CLINICAL PRACTICE GUIDELINES
Eur J Endocrinol. 2021 Oct 6:EJE-21-0967. doi: 10.1530/EJE-21-0967. Online ahead of print.ABSTRACTN/A.PMID:34619658 | DOI:10.1530/EJE-21-0967 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 7, 2021 Category: Endocrinology Authors: George J Kahaly Luigi Bartalena Source Type: research

Comment on the 2021 EUGOGO Clinical Practice Guidelines for the Medical Management of Graves' Orbitopathy
Eur J Endocrinol. 2021 Oct 6:EJE-21-0861. doi: 10.1530/EJE-21-0861. Online ahead of print.ABSTRACTN/A.PMID:34619659 | DOI:10.1530/EJE-21-0861 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 7, 2021 Category: Endocrinology Authors: Terry J Smith Source Type: research

Reply to: Comment on EUGOGO CLINICAL PRACTICE GUIDELINES
Eur J Endocrinol. 2021 Oct 6:EJE-21-0967. doi: 10.1530/EJE-21-0967. Online ahead of print.ABSTRACTN/A.PMID:34619658 | DOI:10.1530/EJE-21-0967 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 7, 2021 Category: Endocrinology Authors: George J Kahaly Luigi Bartalena Source Type: research

Comment on the 2021 EUGOGO Clinical Practice Guidelines for the Medical Management of Graves' Orbitopathy
Eur J Endocrinol. 2021 Oct 6:EJE-21-0861. doi: 10.1530/EJE-21-0861. Online ahead of print.ABSTRACTN/A.PMID:34619659 | DOI:10.1530/EJE-21-0861 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 7, 2021 Category: Endocrinology Authors: Terry J Smith Source Type: research

Cardiovascular risk profile in Growth Hormone treated adults with a craniopharyngioma compared to a non-functioning pituitary adenoma: a national cohort study
CONCLUSION: This study suggests that overall cardiovascular risk profile is worse in craniopharyngioma patients with growth hormone deficiency compared to patients with NFPA. During growth hormone replacement therapy, patients with craniopharyngioma demonstrated an increase in BMI over time, where BMI remained stable in patients with NFPA. Also, diastolic blood pressure did not improve with antihypertensive drugs in craniopharyngioma as seen in patients with NFPA.PMID:34605771 | DOI:10.1530/EJE-21-0419 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 4, 2021 Category: Endocrinology Authors: Tim Verweij Tessa N A Slagboom Nad ège C van Varsseveld Aart-Jan Van der Lely Madeleine L Drent Christa C van Bunderen Source Type: research

Pituitary surgery as alternative to dopamine agonists treatment for microprolactinomas, a cohort study
This study reports the first large series of consecutive non-invasive microprolactinoma patients treated by pituitary surgery and evaluates the efficiency and safety of this treatment.DESIGN: Follow-up of a cohort of consecutive patients treated by surgery.METHODS: Between January 2008 and October 2020, 114 adult patients with pure microprolactinomas were operated on in a single tertiary expert neurosurgical department, using an endoscopic endonasal transsphenoidal approach. Eligible patients were presenting a microprolactinoma with no obvious cavernous invasion on MRI. Prolactin was assayed before and after surgery. Disea...
Source: European Journal of Endocrinology - October 4, 2021 Category: Endocrinology Authors: Bertrand Baussart Chiara Villa Anne Jouinot Marie-Laure Raffin-Sanson Luc Foubert Laure Cazabat Michele Bernier Fid éline Bonnet Anthony Dohan Jerome Bertherat Guillaume Assie Stephan Gaillard Source Type: research

Filamin A and Parafibromin Expression in Parathyroid Carcinoma
We examined FLNA, CaSR and parafibromin expression in PCs (n = 32), APTs (n = 44) and PAs (n = 77) and investigated their potential as diagnostic and/or prognostic markers.METHODS: Tissue microarray slides were immunohistochemically stained with FLNA, CaSR and parafibromin. Staining results were correlated with detailed clinical data.RESULTS: All tumours stained positively for CaSR, with two tumours (one PC and one APT) showing diminished expression. Carcinomas were characterized by increased cytoplasmic FLNA expression compared to APTs and PAs (p = 0.004). FLNA expression was not correlated with Ki-67 proliferation index ...
Source: European Journal of Endocrinology - October 4, 2021 Category: Endocrinology Authors: Sara Storvall Helena Leijon Eeva M Ryh änen Tiina Vesterinen Ilkka Heiskanen Camilla Schalin-Jantti Johanna Arola Source Type: research

Cardiovascular risk profile in Growth Hormone treated adults with a craniopharyngioma compared to a non-functioning pituitary adenoma: a national cohort study
CONCLUSION: This study suggests that overall cardiovascular risk profile is worse in craniopharyngioma patients with growth hormone deficiency compared to patients with NFPA. During growth hormone replacement therapy, patients with craniopharyngioma demonstrated an increase in BMI over time, where BMI remained stable in patients with NFPA. Also, diastolic blood pressure did not improve with antihypertensive drugs in craniopharyngioma as seen in patients with NFPA.PMID:34605771 | DOI:10.1530/EJE-21-0419 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 4, 2021 Category: Endocrinology Authors: Tim Verweij Tessa N A Slagboom Nad ège C van Varsseveld Aart-Jan Van der Lely Madeleine L Drent Christa C van Bunderen Source Type: research

Pituitary surgery as alternative to dopamine agonists treatment for microprolactinomas, a cohort study
This study reports the first large series of consecutive non-invasive microprolactinoma patients treated by pituitary surgery and evaluates the efficiency and safety of this treatment.DESIGN: Follow-up of a cohort of consecutive patients treated by surgery.METHODS: Between January 2008 and October 2020, 114 adult patients with pure microprolactinomas were operated on in a single tertiary expert neurosurgical department, using an endoscopic endonasal transsphenoidal approach. Eligible patients were presenting a microprolactinoma with no obvious cavernous invasion on MRI. Prolactin was assayed before and after surgery. Disea...
Source: European Journal of Endocrinology - October 4, 2021 Category: Endocrinology Authors: Bertrand Baussart Chiara Villa Anne Jouinot Marie-Laure Raffin-Sanson Luc Foubert Laure Cazabat Michele Bernier Fid éline Bonnet Anthony Dohan Jerome Bertherat Guillaume Assie Stephan Gaillard Source Type: research

Filamin A and Parafibromin Expression in Parathyroid Carcinoma
We examined FLNA, CaSR and parafibromin expression in PCs (n = 32), APTs (n = 44) and PAs (n = 77) and investigated their potential as diagnostic and/or prognostic markers.METHODS: Tissue microarray slides were immunohistochemically stained with FLNA, CaSR and parafibromin. Staining results were correlated with detailed clinical data.RESULTS: All tumours stained positively for CaSR, with two tumours (one PC and one APT) showing diminished expression. Carcinomas were characterized by increased cytoplasmic FLNA expression compared to APTs and PAs (p = 0.004). FLNA expression was not correlated with Ki-67 proliferation index ...
Source: European Journal of Endocrinology - October 4, 2021 Category: Endocrinology Authors: Sara Storvall Helena Leijon Eeva M Ryh änen Tiina Vesterinen Ilkka Heiskanen Camilla Schalin-Jantti Johanna Arola Source Type: research

Cardiovascular risk profile in Growth Hormone treated adults with a craniopharyngioma compared to a non-functioning pituitary adenoma: a national cohort study
CONCLUSION: This study suggests that overall cardiovascular risk profile is worse in craniopharyngioma patients with growth hormone deficiency compared to patients with NFPA. During growth hormone replacement therapy, patients with craniopharyngioma demonstrated an increase in BMI over time, where BMI remained stable in patients with NFPA. Also, diastolic blood pressure did not improve with antihypertensive drugs in craniopharyngioma as seen in patients with NFPA.PMID:34605771 | DOI:10.1530/EJE-21-0419 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 4, 2021 Category: Endocrinology Authors: Tim Verweij Tessa N A Slagboom Nad ège C van Varsseveld Aart-Jan Van der Lely Madeleine L Drent Christa C van Bunderen Source Type: research

Pituitary surgery as alternative to dopamine agonists treatment for microprolactinomas, a cohort study
This study reports the first large series of consecutive non-invasive microprolactinoma patients treated by pituitary surgery and evaluates the efficiency and safety of this treatment.DESIGN: Follow-up of a cohort of consecutive patients treated by surgery.METHODS: Between January 2008 and October 2020, 114 adult patients with pure microprolactinomas were operated on in a single tertiary expert neurosurgical department, using an endoscopic endonasal transsphenoidal approach. Eligible patients were presenting a microprolactinoma with no obvious cavernous invasion on MRI. Prolactin was assayed before and after surgery. Disea...
Source: European Journal of Endocrinology - October 4, 2021 Category: Endocrinology Authors: Bertrand Baussart Chiara Villa Anne Jouinot Marie-Laure Raffin-Sanson Luc Foubert Laure Cazabat Michele Bernier Fid éline Bonnet Anthony Dohan Jerome Bertherat Guillaume Assie Stephan Gaillard Source Type: research

Filamin A and Parafibromin Expression in Parathyroid Carcinoma
We examined FLNA, CaSR and parafibromin expression in PCs (n = 32), APTs (n = 44) and PAs (n = 77) and investigated their potential as diagnostic and/or prognostic markers.METHODS: Tissue microarray slides were immunohistochemically stained with FLNA, CaSR and parafibromin. Staining results were correlated with detailed clinical data.RESULTS: All tumours stained positively for CaSR, with two tumours (one PC and one APT) showing diminished expression. Carcinomas were characterized by increased cytoplasmic FLNA expression compared to APTs and PAs (p = 0.004). FLNA expression was not correlated with Ki-67 proliferation index ...
Source: European Journal of Endocrinology - October 4, 2021 Category: Endocrinology Authors: Sara Storvall Helena Leijon Eeva M Ryh änen Tiina Vesterinen Ilkka Heiskanen Camilla Schalin-Jantti Johanna Arola Source Type: research

Commentary: Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform
Eur J Endocrinol. 2021 Oct 1:EJE-21-0949. doi: 10.1530/EJE-21-0949. Online ahead of print.ABSTRACTRecent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1, altering the balance of alternative-splicing, which results in over-expression of the beta isoform of POU1F1. These studies underscore the need for biologists, in the context of the routine molecular diagnosis of this condition, to investigate alternative splicing in POU1F1 as well as in other genes.PMID:34597272 | DOI:10.1530/EJE-21-0949 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 1, 2021 Category: Endocrinology Authors: Thierry Brue Sally Camper Source Type: research

Commentary: Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform
Eur J Endocrinol. 2021 Oct 1:EJE-21-0949. doi: 10.1530/EJE-21-0949. Online ahead of print.ABSTRACTRecent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1, altering the balance of alternative-splicing, which results in over-expression of the beta isoform of POU1F1. These studies underscore the need for biologists, in the context of the routine molecular diagnosis of this condition, to investigate alternative splicing in POU1F1 as well as in other genes.PMID:34597272 | DOI:10.1530/EJE-21-0949 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 1, 2021 Category: Endocrinology Authors: Thierry Brue Sally Camper Source Type: research

Commentary: Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform
Eur J Endocrinol. 2021 Oct 1:EJE-21-0949. doi: 10.1530/EJE-21-0949. Online ahead of print.ABSTRACTRecent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1, altering the balance of alternative-splicing, which results in over-expression of the beta isoform of POU1F1. These studies underscore the need for biologists, in the context of the routine molecular diagnosis of this condition, to investigate alternative splicing in POU1F1 as well as in other genes.PMID:34597272 | DOI:10.1530/EJE-21-0949 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 1, 2021 Category: Endocrinology Authors: Thierry Brue Sally Camper Source Type: research

Commentary: Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform
Eur J Endocrinol. 2021 Oct 1:EJE-21-0949. doi: 10.1530/EJE-21-0949. Online ahead of print.ABSTRACTRecent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1, altering the balance of alternative-splicing, which results in over-expression of the beta isoform of POU1F1. These studies underscore the need for biologists, in the context of the routine molecular diagnosis of this condition, to investigate alternative splicing in POU1F1 as well as in other genes.PMID:34597272 | DOI:10.1530/EJE-21-0949 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 1, 2021 Category: Endocrinology Authors: Thierry Brue Sally Camper Source Type: research

Acromegaly in remission: a view from the partner
Conclusions Our results show that relatives require education concerning all the steps involved in the management of acromegaly, as they likely do not fully understand the sequelae of acromegaly.PMID:34586080 | DOI:10.1530/EJE-21-0537 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 29, 2021 Category: Endocrinology Authors: Rachel Fourneaux Marie Vermalle Frederique Albarel Isabelle Morange Thomas Graillon Vincent Amodru Thomas Cuny Henry Dufour Thierry Brue Frederic Castinetti Source Type: research

Acromegaly in remission: a view from the partner
Conclusions Our results show that relatives require education concerning all the steps involved in the management of acromegaly, as they likely do not fully understand the sequelae of acromegaly.PMID:34586080 | DOI:10.1530/EJE-21-0537 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 29, 2021 Category: Endocrinology Authors: Rachel Fourneaux Marie Vermalle Frederique Albarel Isabelle Morange Thomas Graillon Vincent Amodru Thomas Cuny Henry Dufour Thierry Brue Frederic Castinetti Source Type: research

Long-term Male Fertility after Treatment with Radioactive Iodine for Differentiated Thyroid Carcinoma
CONCLUSIONS: Participants had a normal long-term semen quality. The proportion of participants with low semen quality parameters scoring below the 10th percentile did not differ from the general population. Cryopreservation of semen of males with DTC is not crucial for conceiving a child after RAI administration, but may be considered in individual cases.PMID:34582359 | DOI:10.1530/EJE-21-0315 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 28, 2021 Category: Endocrinology Authors: Marloes Nies Eus G J M Arts Evert F S van Velsen Johannes Gm Burgerhof Anneke C Muller-Kobold Eleonora P M Corssmit Romana T Netea-Maier Robin P Peeters Anouk N A van der Horst-Schrivers Astrid E P Cantineau Thera P Links Source Type: research

Long-term Male Fertility after Treatment with Radioactive Iodine for Differentiated Thyroid Carcinoma
CONCLUSIONS: Participants had a normal long-term semen quality. The proportion of participants with low semen quality parameters scoring below the 10th percentile did not differ from the general population. Cryopreservation of semen of males with DTC is not crucial for conceiving a child after RAI administration, but may be considered in individual cases.PMID:34582359 | DOI:10.1530/EJE-21-0315 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 28, 2021 Category: Endocrinology Authors: Marloes Nies Eus G J M Arts Evert F S van Velsen Johannes Gm Burgerhof Anneke C Muller-Kobold Eleonora P M Corssmit Romana T Netea-Maier Robin P Peeters Anouk N A van der Horst-Schrivers Astrid E P Cantineau Thera P Links Source Type: research

Metabolic disease and adverse events from immune checkpoint inhibitors
Eur J Endocrinol. 2021 Jun;184(6):857-865. doi: 10.1530/eje-20-1362. Epub 2021 May 10.ABSTRACTOBJECTIVE: Obese and overweight body mass index (BMI) categories have been associated with increased immune-related adverse events (irAEs) in patients with cancer receiving immune checkpoint inhibitors (ICIs); however, the impact of being overweight in conjunction with related metabolic syndrome-associated factors on irAEs have not been investigated. We aimed to evaluate the impact of overweight and obese BMI according to metabolic disease burden on the development of irAEs.DESIGN AND METHODS: We conducted a retrospective observat...
Source: European Journal of Endocrinology - September 23, 2021 Category: Endocrinology Authors: Amanda Leiter Emily Carroll Sonia De Alwis Danielle Brooks Jennifer Ben Shimol Elliot Eisenberg Juan P Wisnivesky Matthew D Galsky Emily Jane Gallagher Source Type: research

Metabolic disease and adverse events from immune checkpoint inhibitors
Eur J Endocrinol. 2021 Jun;184(6):857-865. doi: 10.1530/eje-20-1362. Epub 2021 May 10.ABSTRACTOBJECTIVE: Obese and overweight body mass index (BMI) categories have been associated with increased immune-related adverse events (irAEs) in patients with cancer receiving immune checkpoint inhibitors (ICIs); however, the impact of being overweight in conjunction with related metabolic syndrome-associated factors on irAEs have not been investigated. We aimed to evaluate the impact of overweight and obese BMI according to metabolic disease burden on the development of irAEs.DESIGN AND METHODS: We conducted a retrospective observat...
Source: European Journal of Endocrinology - September 23, 2021 Category: Endocrinology Authors: Amanda Leiter Emily Carroll Sonia De Alwis Danielle Brooks Jennifer Ben Shimol Elliot Eisenberg Juan P Wisnivesky Matthew D Galsky Emily Jane Gallagher Source Type: research

Metabolic disease and adverse events from immune checkpoint inhibitors
Eur J Endocrinol. 2021 Jun;184(6):857-865. doi: 10.1530/eje-20-1362. Epub 2021 May 10.ABSTRACTOBJECTIVE: Obese and overweight body mass index (BMI) categories have been associated with increased immune-related adverse events (irAEs) in patients with cancer receiving immune checkpoint inhibitors (ICIs); however, the impact of being overweight in conjunction with related metabolic syndrome-associated factors on irAEs have not been investigated. We aimed to evaluate the impact of overweight and obese BMI according to metabolic disease burden on the development of irAEs.DESIGN AND METHODS: We conducted a retrospective observat...
Source: European Journal of Endocrinology - September 23, 2021 Category: Endocrinology Authors: Amanda Leiter Emily Carroll Sonia De Alwis Danielle Brooks Jennifer Ben Shimol Elliot Eisenberg Juan P Wisnivesky Matthew D Galsky Emily Jane Gallagher Source Type: research

Metabolic disease and adverse events from immune checkpoint inhibitors
Eur J Endocrinol. 2021 Jun;184(6):857-865. doi: 10.1530/eje-20-1362. Epub 2021 May 10.ABSTRACTOBJECTIVE: Obese and overweight body mass index (BMI) categories have been associated with increased immune-related adverse events (irAEs) in patients with cancer receiving immune checkpoint inhibitors (ICIs); however, the impact of being overweight in conjunction with related metabolic syndrome-associated factors on irAEs have not been investigated. We aimed to evaluate the impact of overweight and obese BMI according to metabolic disease burden on the development of irAEs.DESIGN AND METHODS: We conducted a retrospective observat...
Source: European Journal of Endocrinology - September 23, 2021 Category: Endocrinology Authors: Amanda Leiter Emily Carroll Sonia De Alwis Danielle Brooks Jennifer Ben Shimol Elliot Eisenberg Juan P Wisnivesky Matthew D Galsky Emily Jane Gallagher Source Type: research

Plasma glycated CD59 predicts postpartum glucose intolerance after gestational diabetes
Eur J Endocrinol. 2021 Sep 1:EJE-21-0635.R1. doi: 10.1530/EJE-21-0635. Online ahead of print.ABSTRACTAIMS: To assess whether in women with gestational diabetes mellitus (GDM), postpartum plasma glycated CD59 (pGCD59) levels predict conversion to glucose intolerance diagnosed with an oral glucose tolerance test (OGTT).METHODS: Blood levels of pGCD59 were measured in a case-control study of 105 women with GDM who underwent a 75g OGTT three months postpartum. The 35 postpartum glucose intolerant cases were individually matched for age, BMI, ethnic origin and parity with 70 women with GDM but normal postpartum OGTT (controls)....
Source: European Journal of Endocrinology - September 15, 2021 Category: Endocrinology Authors: Katrien Benhalima Diane D Ma Annouschka Laenen Chantal Mathieu Jose A Halperin Source Type: research

Genome-wide analysis of thyroid function in Australian adolescents highlights SERPINA7 and NCOA3
Conclusion Our findings resolve former contention regarding heritability estimates of thyroid function traits and TPOAb positivity. GWAS and gene-based association analysis identified variants accounting for a component of this heritability.PMID:34524976 | DOI:10.1530/EJE-21-0614 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 15, 2021 Category: Endocrinology Authors: James Nolan Purdey J Campbell Suzanne J Brown Gu Zhu Scott Gordon Ee Mun Lim John Joseph Simone Cross Vijay Panicker Sarah E Medland Phillip Melton Lawrence J Beilin Trevor A Mori Benjamin Mullin Craig Pennell Carol Wang Frank Dudbridge John P Walsh Nicho Source Type: research

Association of Sleep and Circadian Patterns and Genetic Risk with Incident Type 2 Diabetes: A Large Prospective Population-Based Cohort Study
Conclusions Sleep and circadian patterns and genetic risk were independently associated with incident T2D. These results indicate the benefits of adhering to a healthy sleep and circadian pattern in entire populations, independent of genetic risk.PMID:34524977 | DOI:10.1530/EJE-21-0314 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 15, 2021 Category: Endocrinology Authors: Zhi-Hao Li Pei-Dong Zhang Qing Chen Xiang Gao Vincent Ch Chung Dong Shen Xi-Ru Zhang Wen-Fang Zhong Qing-Mei Huang Dan Liu Pei-Liang Chen Wei-Qi Song Xian-Bo Wu Virginia Byers Kraus Chen Mao Source Type: research

The broad phenotypic spectrum of 17 α-hydroxylase/ 17,20-lyase (CYP17A1) deficiency: a case series
CONCLUSION: Our findings illustrate the broad phenotypic spectrum of 17OHD. Isolated sex steroid deficiency with normal stimulated cortisol have not been reported before. Attenuation of 17α-hydroxylase activity is readily detected by urinary steroid profiling and predicts phenotype severity.PMID:34524979 | DOI:10.1530/EJE-21-0152 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 15, 2021 Category: Endocrinology Authors: Min Sun Jonathan W Mueller Lorna C Gilligan Angela E Taylor Fozia Shaheen Anna Noczynska Guy T'Sjoen Louise Denvir Savitha Shenoy Piers Fulton Timothy D Cheetham Helena Gleeson Mushtaqur Rahman Nils P Krone Norman F Taylor Cedric H L Shackleton Wiebke Arl Source Type: research

Plasma glycated CD59 predicts postpartum glucose intolerance after gestational diabetes
Eur J Endocrinol. 2021 Sep 1:EJE-21-0635.R1. doi: 10.1530/EJE-21-0635. Online ahead of print.ABSTRACTAIMS: To assess whether in women with gestational diabetes mellitus (GDM), postpartum plasma glycated CD59 (pGCD59) levels predict conversion to glucose intolerance diagnosed with an oral glucose tolerance test (OGTT).METHODS: Blood levels of pGCD59 were measured in a case-control study of 105 women with GDM who underwent a 75g OGTT three months postpartum. The 35 postpartum glucose intolerant cases were individually matched for age, BMI, ethnic origin and parity with 70 women with GDM but normal postpartum OGTT (controls)....
Source: European Journal of Endocrinology - September 15, 2021 Category: Endocrinology Authors: Katrien Benhalima Diane D Ma Annouschka Laenen Chantal Mathieu Jose A Halperin Source Type: research

Genome-wide analysis of thyroid function in Australian adolescents highlights SERPINA7 and NCOA3
Conclusion Our findings resolve former contention regarding heritability estimates of thyroid function traits and TPOAb positivity. GWAS and gene-based association analysis identified variants accounting for a component of this heritability.PMID:34524976 | DOI:10.1530/EJE-21-0614 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 15, 2021 Category: Endocrinology Authors: James Nolan Purdey J Campbell Suzanne J Brown Gu Zhu Scott Gordon Ee Mun Lim John Joseph Simone Cross Vijay Panicker Sarah E Medland Phillip Melton Lawrence J Beilin Trevor A Mori Benjamin Mullin Craig Pennell Carol Wang Frank Dudbridge John P Walsh Nicho Source Type: research

Association of Sleep and Circadian Patterns and Genetic Risk with Incident Type 2 Diabetes: A Large Prospective Population-Based Cohort Study
Conclusions Sleep and circadian patterns and genetic risk were independently associated with incident T2D. These results indicate the benefits of adhering to a healthy sleep and circadian pattern in entire populations, independent of genetic risk.PMID:34524977 | DOI:10.1530/EJE-21-0314 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 15, 2021 Category: Endocrinology Authors: Zhi-Hao Li Pei-Dong Zhang Qing Chen Xiang Gao Vincent Ch Chung Dong Shen Xi-Ru Zhang Wen-Fang Zhong Qing-Mei Huang Dan Liu Pei-Liang Chen Wei-Qi Song Xian-Bo Wu Virginia Byers Kraus Chen Mao Source Type: research

The broad phenotypic spectrum of 17 α-hydroxylase/ 17,20-lyase (CYP17A1) deficiency: a case series
CONCLUSION: Our findings illustrate the broad phenotypic spectrum of 17OHD. Isolated sex steroid deficiency with normal stimulated cortisol have not been reported before. Attenuation of 17α-hydroxylase activity is readily detected by urinary steroid profiling and predicts phenotype severity.PMID:34524979 | DOI:10.1530/EJE-21-0152 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - September 15, 2021 Category: Endocrinology Authors: Min Sun Jonathan W Mueller Lorna C Gilligan Angela E Taylor Fozia Shaheen Anna Noczynska Guy T'Sjoen Louise Denvir Savitha Shenoy Piers Fulton Timothy D Cheetham Helena Gleeson Mushtaqur Rahman Nils P Krone Norman F Taylor Cedric H L Shackleton Wiebke Arl Source Type: research