Objective: Assessment of posttraumatic hypothalamic-pituitary dysfunctions is expected to be the most relevant assessment to offer patients with severe intracranial affection. In this study, we aim to investigate the prevalence of hypopituitarism in patients with severe acquired traumatic brain injury (TBI) compared with nontraumatic brain injury (NTBI) and to relate pituitary insufficiency to functional and patient-reported outcomes.
Design: This is a prospective study.
Methods: We included patients admitted for inpatient neurorehabilitation after severe TBI (N = 42) and NTBI (N = 18). The patients underwent a pituitary function assessment at a mean of 2.4 years after the injury. Functional outcome was assessed by using Functional Independence Measure and Glasgow Outcome Scale-Extended (both 1 year after discharge from neurorehabilitation) and patient-reported outcome was assessed by using Multiple Fatigue Inventory-20 and EQ-5D-3L.
Results: Hypopituitarism was reported in 10/42 (24%) patients with TBI and 7/18 (39%) patients with NTBI (P = .23). Insufficiencies affected 1 axis in 14/17 (82%) patients (13 hypogonadotropic hypogonadism and 1 growth hormone [GH] deficiency) and 2 axes in 3/17 (18%) patients (1 hypogonadotropic hypogonadism and GH deficiency, and 2 hypogonadotropic hypogonadism and arginin vasopressin deficiency). None had central hypoadrenalism or central hypothyroidism. In patients with both TBI and NTBI, pituitary status was unrelated to functioning and ability scores at 1 year and to patient-reported outcome scores at a mean of 2.4 years after the injury.
Conclusion: Patients with severe acquired brain injury may develop long-term hypothalamus-pituitary insufficiency, with an equal occurrence in patients with TBI and NTBI. In both types of patients, mainly isolated deficiencies, most commonly affecting the gonadal axis, were seen. Insufficiencies were unrelated to functional outcomes and patient-reported outcomes, probably reflecting the complexity and heterogeneous manifestations in both patient groups.
{"title":"Long-term pituitary function and functional and patient-reported outcomes in severe acquired brain injury.","authors":"Djordje Marina, Ulla Feldt-Rasmussen, Marianne Klose","doi":"10.1093/ejendo/lvae047","DOIUrl":"10.1093/ejendo/lvae047","url":null,"abstract":"<p><strong>Objective: </strong>Assessment of posttraumatic hypothalamic-pituitary dysfunctions is expected to be the most relevant assessment to offer patients with severe intracranial affection. In this study, we aim to investigate the prevalence of hypopituitarism in patients with severe acquired traumatic brain injury (TBI) compared with nontraumatic brain injury (NTBI) and to relate pituitary insufficiency to functional and patient-reported outcomes.</p><p><strong>Design: </strong>This is a prospective study.</p><p><strong>Methods: </strong>We included patients admitted for inpatient neurorehabilitation after severe TBI (N = 42) and NTBI (N = 18). The patients underwent a pituitary function assessment at a mean of 2.4 years after the injury. Functional outcome was assessed by using Functional Independence Measure and Glasgow Outcome Scale-Extended (both 1 year after discharge from neurorehabilitation) and patient-reported outcome was assessed by using Multiple Fatigue Inventory-20 and EQ-5D-3L.</p><p><strong>Results: </strong>Hypopituitarism was reported in 10/42 (24%) patients with TBI and 7/18 (39%) patients with NTBI (P = .23). Insufficiencies affected 1 axis in 14/17 (82%) patients (13 hypogonadotropic hypogonadism and 1 growth hormone [GH] deficiency) and 2 axes in 3/17 (18%) patients (1 hypogonadotropic hypogonadism and GH deficiency, and 2 hypogonadotropic hypogonadism and arginin vasopressin deficiency). None had central hypoadrenalism or central hypothyroidism. In patients with both TBI and NTBI, pituitary status was unrelated to functioning and ability scores at 1 year and to patient-reported outcome scores at a mean of 2.4 years after the injury.</p><p><strong>Conclusion: </strong>Patients with severe acquired brain injury may develop long-term hypothalamus-pituitary insufficiency, with an equal occurrence in patients with TBI and NTBI. In both types of patients, mainly isolated deficiencies, most commonly affecting the gonadal axis, were seen. Insufficiencies were unrelated to functional outcomes and patient-reported outcomes, probably reflecting the complexity and heterogeneous manifestations in both patient groups.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140848604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Galderisi, D. Kariyawasam, A. Stoupa, A. Quoc, G. Pinto, M. Viaud, S. Brabant, J. Beltrand, M. Polak, D. Samara-Boustani
{"title":"Glucose pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring.","authors":"A. Galderisi, D. Kariyawasam, A. Stoupa, A. Quoc, G. Pinto, M. Viaud, S. Brabant, J. Beltrand, M. Polak, D. Samara-Boustani","doi":"10.1093/ejendo/lvae042","DOIUrl":"https://doi.org/10.1093/ejendo/lvae042","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140652738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sibylle Rovani, Victoria Butler, D. Samara-Boustani, G. Pinto, L. González-Briceño, Adrien Nguyen Quoc, Gaëlle Vermillac, A. Stoupa, A. Besançon, J. Beltrand, C. Thalassinos, I. Flechtner, Yamina Dassa, M. Viaud, Maria Beatriz Arrom-Branas, N. Boddaert, S. Puget, T. Blauwblomme, C. Alapetite, S. Bolle, François Doz, Jacques Grill, Christelle Dufour, Franck Bourdeaut, S. Abbou, L. Guerrini-Rousseau, A. Leruste, K. Beccaria, M. Polak, D. Kariyawasam
OBJECTIVE Adamantinomatous craniopharyngioma mainly affects children. Excessive weight gain is a major long-term complication. The primary objective of this study was to assess long-term weight changes in children treated for craniopharyngioma. The secondary objectives were to identify risk factors for excessive weight gain and to look for associations with hypothalamic damage by the tumour or treatment. DESIGN Single-centre retrospective cohort study. METHOD Children managed for craniopharyngioma at our centre between 1990 and 2019 were included. The body mass index (BMI) standard deviation scores (SDS) at baseline and at last follow-up were compared. Univariate and multivariate analyses were performed in order to identify variables associated with the long-term BMI-SDS variation. RESULTS The 108 patients had a mean follow-up of 10.4 years. The mean BMI-SDS increase over time was 2.11 (p < 0.001) overall, 1.21 (p < 0.001) in the group without hypothalamic involvement by the tumour, and 1.95 (p < 0.001) in the group managed using intended hypothalamus-sparing surgery. Absence of hypothalamic involvement by the tumour or treatment was significantly associated with less weight gain (p = 0.046 and p < 0.01, respectively). After adjustment, factors associated with a BMI-SDS change greater than 2 were female sex (p = 0.023), tumour involving the hypothalamus (p = 0.04), and higher baseline BMI (p < 0.001). CONCLUSION Clinically significant weight gain occurred in nearly all children treated for craniopharyngioma, including those whose hypothalamus was spared by the tumour and intentionally by treatment. However, hypothalamus integrity was associated with less weight gain. Despite hypothalamus-sparing strategies, hypothalamic obesity remains a major concern, indicating a need for novel treatment approaches.
目的金刚瘤性颅咽管瘤主要影响儿童。体重过度增长是一个主要的长期并发症。本研究的主要目的是评估接受颅咽管瘤治疗的儿童的长期体重变化。设计单中心回顾性队列研究。方法纳入1990年至2019年在本中心接受颅咽管瘤治疗的儿童。比较基线时和最后一次随访时的体重指数（BMI）标准差评分（SDS）。结果108名患者的平均随访时间为10.4年。总体而言，BMI-SDS随时间推移的平均增幅为2.11（p < 0.001），未受下丘脑肿瘤累及组为1.21（p < 0.001），采用预定的下丘脑保留手术治疗组为1.95（p < 0.001）。肿瘤或治疗未累及下丘脑与体重增加较少显著相关（分别为 p = 0.046 和 p < 0.01）。结论几乎所有接受颅咽管瘤治疗的儿童都出现了临床意义上的体重增加，包括下丘脑未受肿瘤影响和治疗有意造成下丘脑损伤的儿童。然而，下丘脑的完整性与体重增加较少有关。尽管采取了保留下丘脑的策略，但下丘脑肥胖仍是一个主要问题，这表明需要新的治疗方法。
{"title":"Long-Term Weight Gain in Children with Craniopharyngioma.","authors":"Sibylle Rovani, Victoria Butler, D. Samara-Boustani, G. Pinto, L. González-Briceño, Adrien Nguyen Quoc, Gaëlle Vermillac, A. Stoupa, A. Besançon, J. Beltrand, C. Thalassinos, I. Flechtner, Yamina Dassa, M. Viaud, Maria Beatriz Arrom-Branas, N. Boddaert, S. Puget, T. Blauwblomme, C. Alapetite, S. Bolle, François Doz, Jacques Grill, Christelle Dufour, Franck Bourdeaut, S. Abbou, L. Guerrini-Rousseau, A. Leruste, K. Beccaria, M. Polak, D. Kariyawasam","doi":"10.1093/ejendo/lvae044","DOIUrl":"https://doi.org/10.1093/ejendo/lvae044","url":null,"abstract":"OBJECTIVE\u0000Adamantinomatous craniopharyngioma mainly affects children. Excessive weight gain is a major long-term complication. The primary objective of this study was to assess long-term weight changes in children treated for craniopharyngioma. The secondary objectives were to identify risk factors for excessive weight gain and to look for associations with hypothalamic damage by the tumour or treatment.\u0000\u0000\u0000DESIGN\u0000Single-centre retrospective cohort study.\u0000\u0000\u0000METHOD\u0000Children managed for craniopharyngioma at our centre between 1990 and 2019 were included. The body mass index (BMI) standard deviation scores (SDS) at baseline and at last follow-up were compared. Univariate and multivariate analyses were performed in order to identify variables associated with the long-term BMI-SDS variation.\u0000\u0000\u0000RESULTS\u0000The 108 patients had a mean follow-up of 10.4 years. The mean BMI-SDS increase over time was 2.11 (p < 0.001) overall, 1.21 (p < 0.001) in the group without hypothalamic involvement by the tumour, and 1.95 (p < 0.001) in the group managed using intended hypothalamus-sparing surgery. Absence of hypothalamic involvement by the tumour or treatment was significantly associated with less weight gain (p = 0.046 and p < 0.01, respectively). After adjustment, factors associated with a BMI-SDS change greater than 2 were female sex (p = 0.023), tumour involving the hypothalamus (p = 0.04), and higher baseline BMI (p < 0.001).\u0000\u0000\u0000CONCLUSION\u0000Clinically significant weight gain occurred in nearly all children treated for craniopharyngioma, including those whose hypothalamus was spared by the tumour and intentionally by treatment. However, hypothalamus integrity was associated with less weight gain. Despite hypothalamus-sparing strategies, hypothalamic obesity remains a major concern, indicating a need for novel treatment approaches.","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140658587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. V. van Kinschot, Lindsey Oudijk, C. van Noord, T. Korevaar, F H van Nederveen, Robin P Peeters, F. V. van Kemenade, W. E. Visser
BACKGROUND Lymph node metastases in papillary thyroid cancer (PTC) increase the risk for persistent and recurrent disease. Data on the predictive value of histopathological features of lymph node metastases, however, are inconsistent. The aim of this study was to evaluate the prognostic significance of known and new histopathological features of lymph node metastases in a well-defined cohort of PTC patients with clinically evident lymph node metastases. METHODS A total of 1042 lymph node metastases, derived from 129 PTC patients, were re-examined according to a predefined protocol and evaluated for diameter, extranodal extension, cystic changes, necrosis, calcifications and the proportion of the lymph node taken up by tumor cells. Predictors for a failure to achieve a complete biochemical and structural response to treatment were determined. RESULTS The presence of more than 5 lymph node metastases was the only independent predictor for a failure to achieve a complete response to treatment (OR 3.39 [95% CI 1.57-7.33], p < 0.05). Diameter nor any of the other evaluated lymph node features were significantly associated with the response to treatment. CONCLUSIONS Detailed re-examination of lymph nodes revealed that only the presence of more than 5 lymph node metastases was an independent predictor of failure to achieve a complete response to treatment. No predictive value was found for other histopathological features, including the diameter of the lymph node metastases. These findings have the potential to improve risk stratification in patients with PTC and clinically evident lymph node metastases.
{"title":"Predictors of treatment response in lymphogenic metastasized papillary thyroid cancer: a histopathological study.","authors":"C. V. van Kinschot, Lindsey Oudijk, C. van Noord, T. Korevaar, F H van Nederveen, Robin P Peeters, F. V. van Kemenade, W. E. Visser","doi":"10.1093/ejendo/lvae048","DOIUrl":"https://doi.org/10.1093/ejendo/lvae048","url":null,"abstract":"BACKGROUND\u0000Lymph node metastases in papillary thyroid cancer (PTC) increase the risk for persistent and recurrent disease. Data on the predictive value of histopathological features of lymph node metastases, however, are inconsistent. The aim of this study was to evaluate the prognostic significance of known and new histopathological features of lymph node metastases in a well-defined cohort of PTC patients with clinically evident lymph node metastases.\u0000\u0000\u0000METHODS\u0000A total of 1042 lymph node metastases, derived from 129 PTC patients, were re-examined according to a predefined protocol and evaluated for diameter, extranodal extension, cystic changes, necrosis, calcifications and the proportion of the lymph node taken up by tumor cells. Predictors for a failure to achieve a complete biochemical and structural response to treatment were determined.\u0000\u0000\u0000RESULTS\u0000The presence of more than 5 lymph node metastases was the only independent predictor for a failure to achieve a complete response to treatment (OR 3.39 [95% CI 1.57-7.33], p < 0.05). Diameter nor any of the other evaluated lymph node features were significantly associated with the response to treatment.\u0000\u0000\u0000CONCLUSIONS\u0000Detailed re-examination of lymph nodes revealed that only the presence of more than 5 lymph node metastases was an independent predictor of failure to achieve a complete response to treatment. No predictive value was found for other histopathological features, including the diameter of the lymph node metastases. These findings have the potential to improve risk stratification in patients with PTC and clinically evident lymph node metastases.","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140668938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Kulle, Amke Caliebe, Tabea Lamprecht, T. Reinehr, G. Šimić-Schleicher, Esther Schulz, Michaela Kleber, J. Rothermel, Sabine Heger, Olaf Hiort, P.-M. Holterhus
CONTEXT Reliable estradiol (E2) reference intervals (RIs) are crucial in Pediatric Endocrinology. OBJECTIVES To develop a sensitive ultra-performance liquid chromatographic tandem mass spectrometry (UPLC-MS/MS) method for E2 in serum, to establish graphically represented RI percentiles and annual RIs for both sexes and to perform a systematic literature comparison. METHODS First, an UPLC-MS/MS method for E2 was developed. Second, graphically represented RI percentiles and annual RIs covering 0-18 years were computed (cohort of healthy children (1181 girls, 543 boys)). Subsequently, RIs were compared with published data by systematic searches. RESULTS Lower limit of quantification was 11 pmol/L, indicating high sensitivity. E2 first peaked during mini-puberty in both sexes (girls up to 192 pmol/L; boys up to: 225 pmol/L). As could be expected, girls showed higher pubertal E2 (up to 638 pmol/L). However, boys' RIs (up to 259 pmol/L) overlapped considerably. We found four studies in the literature which also used LC-MS/MS to determine E2 and published RIs for the complete pediatric age range. RIs varied considerably. Pre-pubertal and pubertal phases were present in all studies. Higher E2 during the time of mini-puberty in both sexes was documented in three studies including ours. CONCLUSIONS Variability of RIs for E2 between studies illustrates importance of laboratory-specific RIs despite using a liquid chromatographic tandem mass spectrometry (LC-MS/MS) reference method. In boys, the striking E2 peak during mini-puberty as well as high pubertal E2 without phenotypic estrogenization in regular male puberty indicate that the role of E2 in children, and especially in boys requires better functional understanding.
{"title":"New LC-MS/MS reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patterns.","authors":"A. Kulle, Amke Caliebe, Tabea Lamprecht, T. Reinehr, G. Šimić-Schleicher, Esther Schulz, Michaela Kleber, J. Rothermel, Sabine Heger, Olaf Hiort, P.-M. Holterhus","doi":"10.1093/ejendo/lvae046","DOIUrl":"https://doi.org/10.1093/ejendo/lvae046","url":null,"abstract":"CONTEXT\u0000Reliable estradiol (E2) reference intervals (RIs) are crucial in Pediatric Endocrinology.\u0000\u0000\u0000OBJECTIVES\u0000To develop a sensitive ultra-performance liquid chromatographic tandem mass spectrometry (UPLC-MS/MS) method for E2 in serum, to establish graphically represented RI percentiles and annual RIs for both sexes and to perform a systematic literature comparison.\u0000\u0000\u0000METHODS\u0000First, an UPLC-MS/MS method for E2 was developed. Second, graphically represented RI percentiles and annual RIs covering 0-18 years were computed (cohort of healthy children (1181 girls, 543 boys)). Subsequently, RIs were compared with published data by systematic searches.\u0000\u0000\u0000RESULTS\u0000Lower limit of quantification was 11 pmol/L, indicating high sensitivity. E2 first peaked during mini-puberty in both sexes (girls up to 192 pmol/L; boys up to: 225 pmol/L). As could be expected, girls showed higher pubertal E2 (up to 638 pmol/L). However, boys' RIs (up to 259 pmol/L) overlapped considerably. We found four studies in the literature which also used LC-MS/MS to determine E2 and published RIs for the complete pediatric age range. RIs varied considerably. Pre-pubertal and pubertal phases were present in all studies. Higher E2 during the time of mini-puberty in both sexes was documented in three studies including ours.\u0000\u0000\u0000CONCLUSIONS\u0000Variability of RIs for E2 between studies illustrates importance of laboratory-specific RIs despite using a liquid chromatographic tandem mass spectrometry (LC-MS/MS) reference method. In boys, the striking E2 peak during mini-puberty as well as high pubertal E2 without phenotypic estrogenization in regular male puberty indicate that the role of E2 in children, and especially in boys requires better functional understanding.","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140669796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Asaf Lebel, Efrat Ben Shalom, Rozan Mokatern, Raphael Halevy, Y. Zehavi, Daniela Magen
BACKGROUND AND OBJECTIVE Apparent mineralocorticoid excess (AME) syndrome is an ultra-rare autosomal-recessive tubulopathy, caused by mutations in HSD11B2, leading to excessive activation of the kidney mineralocorticoid receptor, and characterized by early-onset low-renin hypertension, hypokalemia, and risk of chronic kidney disease (CKD). To date, most reports included few patients, and none described patients from Israel. We aimed to describe AME patients from Israel and to review the relevant literature. DESIGN Retrospective cohort study. METHODS Clinical, laboratory, and molecular data from patients' records were collected. RESULTS Five patients presented at early childhood with normal estimated glomerular filtration rate (eGFR), while two patients presented during late childhood with CKD. Molecular analysis revealed two novel homozygous mutations in HSD11B2. All patients presented with severe hypertension and hypokalemia. While all patients developed nephrocalcinosis, only one showed hypercalciuria. All individuals were managed with potassium supplements, mineralocorticoid receptor antagonists, and various antihypertensive medications. One patient survived cardiac arrest secondary to severe hyperkalemia. At last follow-up, those five patients who presented early exhibited normal eGFR and near-normal blood pressure, but two have hypertension complications. The two patients who presented with CKD progressed to end-stage kidney disease (ESKD) necessitating dialysis and kidney transplantation. CONCLUSIONS In this 11-year follow-up report of two Israeli families with AME, patients who presented early maintained long-term normal kidney function, while those who presented late progressed to ESKD. Nevertheless, despite early diagnosis and management, AME is commonly associated with serious complications of the disease or its treatment.
{"title":"Apparent Mineralocorticoid Excess in Israel: A Case Series and Literature Review.","authors":"Asaf Lebel, Efrat Ben Shalom, Rozan Mokatern, Raphael Halevy, Y. Zehavi, Daniela Magen","doi":"10.1093/ejendo/lvae049","DOIUrl":"https://doi.org/10.1093/ejendo/lvae049","url":null,"abstract":"BACKGROUND AND OBJECTIVE\u0000Apparent mineralocorticoid excess (AME) syndrome is an ultra-rare autosomal-recessive tubulopathy, caused by mutations in HSD11B2, leading to excessive activation of the kidney mineralocorticoid receptor, and characterized by early-onset low-renin hypertension, hypokalemia, and risk of chronic kidney disease (CKD). To date, most reports included few patients, and none described patients from Israel. We aimed to describe AME patients from Israel and to review the relevant literature.\u0000\u0000\u0000DESIGN\u0000Retrospective cohort study.\u0000\u0000\u0000METHODS\u0000Clinical, laboratory, and molecular data from patients' records were collected.\u0000\u0000\u0000RESULTS\u0000Five patients presented at early childhood with normal estimated glomerular filtration rate (eGFR), while two patients presented during late childhood with CKD. Molecular analysis revealed two novel homozygous mutations in HSD11B2. All patients presented with severe hypertension and hypokalemia. While all patients developed nephrocalcinosis, only one showed hypercalciuria. All individuals were managed with potassium supplements, mineralocorticoid receptor antagonists, and various antihypertensive medications. One patient survived cardiac arrest secondary to severe hyperkalemia. At last follow-up, those five patients who presented early exhibited normal eGFR and near-normal blood pressure, but two have hypertension complications. The two patients who presented with CKD progressed to end-stage kidney disease (ESKD) necessitating dialysis and kidney transplantation.\u0000\u0000\u0000CONCLUSIONS\u0000In this 11-year follow-up report of two Israeli families with AME, patients who presented early maintained long-term normal kidney function, while those who presented late progressed to ESKD. Nevertheless, despite early diagnosis and management, AME is commonly associated with serious complications of the disease or its treatment.","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140668548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ilja Dubinski, Susanne Bechtold-Dalla Pozza, Belana Debor, H. Nowotny, N. Reisch, Lea Tschaidse, Heinrich Schmidt
{"title":"Continuous Glucose Monitoring in Children and Adolescents with Congenital Adrenal Hyperplasia.","authors":"Ilja Dubinski, Susanne Bechtold-Dalla Pozza, Belana Debor, H. Nowotny, N. Reisch, Lea Tschaidse, Heinrich Schmidt","doi":"10.1093/ejendo/lvae036","DOIUrl":"https://doi.org/10.1093/ejendo/lvae036","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140693667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. Tucci, F. Fanelli, Ilaria Improta, Valentina Bissi, Claudia Lena, Greta Galante, M. Mezzullo, Matteo Magagnoli, Anna Bianca Lalumera, Giacomo Colombin, Kimberly Coscia, Laura Rotolo, V. Vicennati, U. Pagotto, G. Di Dalmazi
BACKGROUND Various glucocorticoid replacement treatments (GRT) are available for adrenal insufficiency (AI). However, their effectiveness in restoring glucocorticoid rhythm and exposure lacks adequate biochemical markers. We described the diurnal salivary cortisol (SalF) and cortisone (SalE) rhythm among different GRTs and analysed the associations between saliva-derived parameters and life quality questionnaires. METHODS Control subjects (CS, n=28) and AI patients receiving hydrocortisone (HC, n=9), cortisone acetate (CA, n=23), dual-release hydrocortisone once (DRHC-od, n=10) and twice a day (DRHC-td, n=6) collected 9 saliva samples from 07:00 to 23:00. Patients compiled Pittsburgh Sleep Quality Index, Hospital Anxiety and Depression Scale and Addison disease specific quality-of-life questionnaires. SalE and SalF were measured by liquid chromatography-mass spectrometry. Exposure was monitored using SalE for HC and DRHC, and SalF for CA. Area under the curve (AUC) was computed. Different GRTs were compared by Z-scores calculated from saliva-derived parameters. Questionnaires results predictors were evaluated with multiple regression analysis. RESULTS Compared to controls, all GRTs resulted in glucocorticoid over-exposure in the morning. HC, CA, and DRHC-td caused over-exposure also in afternoon and evening. Compared to other treatments, CA determined increased Z-score-07:00 (p<0.001), DRHC-td determined increased Z-score-AUC07:00→14:00 (p=0.007) and DRHC-od induced lower Zscore-AUC14:00→23:00 (p=0.015). Z-scores-AUC14:00→16:00 ≥ 0.619 best predicted questionnaire scores. CONCLUSIONS None of the GRTs mimics normal glucocorticoid rhythmicity and exposure. SalE, SalF and Z-score may be useful markers for monitoring and comparing different GRTs. Excess glucocorticoid in early afternoon best associated with depressive symptoms and worse life and sleep quality.
背景各种糖皮质激素替代疗法（GRT）可用于治疗肾上腺功能不全（AI）。然而，它们在恢复糖皮质激素节律和暴露方面的有效性缺乏适当的生化指标。我们描述了不同 GRT 的昼夜唾液皮质醇（SalF）和可的松（SalE）节律，并分析了唾液衍生参数与生活质量问卷之间的关联。方法对照组（CS，n=28）和接受氢化可的松（HC，n=9）、醋酸可的松（CA，n=23）、双释放氢化可的松一次（DRHC-od，n=10）和一天两次（DRHC-td，n=6）治疗的人工智能患者在 7:00 至 23:00 期间采集了 9 份唾液样本。患者填写匹兹堡睡眠质量指数、医院焦虑和抑郁量表以及阿狄森病特定生活质量问卷。通过液相色谱-质谱法测量 SalE 和 SalF。使用 SalE 监测 HC 和 DRHC 的暴露情况，使用 SalF 监测 CA 的暴露情况。计算曲线下面积（AUC）。根据唾液衍生参数计算出的 Z 分数对不同的 GRT 进行比较。结果与对照组相比，所有 GRT 均导致早晨糖皮质激素暴露过度。HC、CA和DRHC-td也会导致下午和晚上的过度暴露。与其他处理相比，CA导致Z-score-07:00增加（p<0.001），DRHC-td导致Z-score-AUC07:00→14:00增加（p=0.007），DRHC-od导致Z-score-AUC14:00→23:00降低（p=0.015）。Z-scores-AUC14:00→16:00≥0.619最能预测问卷得分。SalE、SalF和Z-score可能是监测和比较不同GRT的有用标记。下午早些时候过量的糖皮质激素与抑郁症状以及生活和睡眠质量的恶化最有关联。
{"title":"Monitoring adrenal insufficiency through salivary steroids: a pilot study.","authors":"L. Tucci, F. Fanelli, Ilaria Improta, Valentina Bissi, Claudia Lena, Greta Galante, M. Mezzullo, Matteo Magagnoli, Anna Bianca Lalumera, Giacomo Colombin, Kimberly Coscia, Laura Rotolo, V. Vicennati, U. Pagotto, G. Di Dalmazi","doi":"10.1093/ejendo/lvae037","DOIUrl":"https://doi.org/10.1093/ejendo/lvae037","url":null,"abstract":"BACKGROUND\u0000Various glucocorticoid replacement treatments (GRT) are available for adrenal insufficiency (AI). However, their effectiveness in restoring glucocorticoid rhythm and exposure lacks adequate biochemical markers. We described the diurnal salivary cortisol (SalF) and cortisone (SalE) rhythm among different GRTs and analysed the associations between saliva-derived parameters and life quality questionnaires.\u0000\u0000\u0000METHODS\u0000Control subjects (CS, n=28) and AI patients receiving hydrocortisone (HC, n=9), cortisone acetate (CA, n=23), dual-release hydrocortisone once (DRHC-od, n=10) and twice a day (DRHC-td, n=6) collected 9 saliva samples from 07:00 to 23:00. Patients compiled Pittsburgh Sleep Quality Index, Hospital Anxiety and Depression Scale and Addison disease specific quality-of-life questionnaires. SalE and SalF were measured by liquid chromatography-mass spectrometry. Exposure was monitored using SalE for HC and DRHC, and SalF for CA. Area under the curve (AUC) was computed. Different GRTs were compared by Z-scores calculated from saliva-derived parameters. Questionnaires results predictors were evaluated with multiple regression analysis.\u0000\u0000\u0000RESULTS\u0000Compared to controls, all GRTs resulted in glucocorticoid over-exposure in the morning. HC, CA, and DRHC-td caused over-exposure also in afternoon and evening. Compared to other treatments, CA determined increased Z-score-07:00 (p<0.001), DRHC-td determined increased Z-score-AUC07:00→14:00 (p=0.007) and DRHC-od induced lower Zscore-AUC14:00→23:00 (p=0.015). Z-scores-AUC14:00→16:00 ≥ 0.619 best predicted questionnaire scores.\u0000\u0000\u0000CONCLUSIONS\u0000None of the GRTs mimics normal glucocorticoid rhythmicity and exposure. SalE, SalF and Z-score may be useful markers for monitoring and comparing different GRTs. Excess glucocorticoid in early afternoon best associated with depressive symptoms and worse life and sleep quality.","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140743394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
P. Mulatero, Ute I Scholl, Carlos E Fardella, Evangelia Charmandari, Andrzej Januszewicz, M. Reincke, Celso E. Gomez-Sanchez, Michael Stowasser, Olaf M Dekkers
We describe herein the European Reference Network on Rare Endocrine Conditions (Endo-ERN)- clinical practice guideline on diagnosis and management of familial forms of hyperaldosteronism. The guideline panel consisted of 10 experts in primary aldosteronism, endocrine hypertension, pediatric endocrinology and cardiology as well as a methodologist. A systematic literature search was conducted, and because of the rarity of the condition, most recommendations were based on expert opinion and small patient series. The guideline includes a brief description of the genetics and molecular pathophysiology associated with each condition, the patients to be screened and how to screen. Diagnostic and treatment approaches for patients with genetically determined diagnosis are presented. The recommendations apply to patients with genetically proven familial hyperaldosteronism and not to families with more than one case of PA without demonstration of a responsible pathogenic variant.
我们在此介绍欧洲罕见内分泌疾病参考网络（Endo-ERN）--家族性醛固酮增多症诊断和管理临床实践指南。指南小组由原发性醛固酮增多症、内分泌高血压、儿科内分泌学和心脏病学的 10 位专家以及一位方法论专家组成。该指南进行了系统的文献检索，由于该病罕见，大多数建议都是基于专家意见和小型患者系列。指南中简要介绍了与每种疾病相关的遗传学和分子病理生理学、需要筛查的患者以及筛查方法。指南还介绍了针对基因诊断患者的诊断和治疗方法。这些建议适用于经遗传学证实的家族性高醛固酮症患者，不适用于有一个以上 PA 病例但未证明有致病变异的家族。
{"title":"Familial Hyperaldosteronism: an ENDO ERN Clinical Practice Guideline.","authors":"P. Mulatero, Ute I Scholl, Carlos E Fardella, Evangelia Charmandari, Andrzej Januszewicz, M. Reincke, Celso E. Gomez-Sanchez, Michael Stowasser, Olaf M Dekkers","doi":"10.1093/ejendo/lvae041","DOIUrl":"https://doi.org/10.1093/ejendo/lvae041","url":null,"abstract":"We describe herein the European Reference Network on Rare Endocrine Conditions (Endo-ERN)- clinical practice guideline on diagnosis and management of familial forms of hyperaldosteronism. The guideline panel consisted of 10 experts in primary aldosteronism, endocrine hypertension, pediatric endocrinology and cardiology as well as a methodologist. A systematic literature search was conducted, and because of the rarity of the condition, most recommendations were based on expert opinion and small patient series. The guideline includes a brief description of the genetics and molecular pathophysiology associated with each condition, the patients to be screened and how to screen. Diagnostic and treatment approaches for patients with genetically determined diagnosis are presented. The recommendations apply to patients with genetically proven familial hyperaldosteronism and not to families with more than one case of PA without demonstration of a responsible pathogenic variant.","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140741560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Blandine Gatta-Cherifi, Kamel Mohammedi, Tanguy Cariou, Christine Poitou, Philippe Touraine, Gerald Raverot, Thierry Brue, Philippe Chanson, Frédéric Illouz, Solange Grunenwald, Olivier Chabre, Emmanuel Sonnet, Thomas Cuny, Jerôme Bertherat, Sébastien Czernichow, Eric Frison, Antoine Tabarin
Importance: A major issue in the management of craniopharyngioma-related obesity (CRO) is the ineffectiveness of the current therapeutic approaches.
Objective: To study the efficacy of glucagon-like peptide-1 analogs compared with placebo in adults with obesity CRO.
Design: A double-blind multicenter superiority randomized clinical in trial in two parallel arms.
Setting: Eleven French University Hospital Centers.
Participants: Adults with CRO (body mass index > 30 kg/m²) without the sign of recurrence of craniopharyngioma in the past year.
Interventions: Exenatide or placebo injected subcutaneously twice a day during 26 weeks.
Main outcomes and measures: The primary outcome was the mean change in body weight at week 26 in the intention-to-treat population. Secondary outcomes were eating behavior, calories intake, energy expenditure, cardiovascular, metabolic risk factor, quality of life, and the tolerance profile.
Results: At week 26, weight decreased from baseline by a mean of -3.8 (SD 4.3) kg for exenatide and -1.6 (3.8) kg for placebo. The adjusted mean treatment difference was -3.1 kg (95% confidence interval [CI] -7.0 to 0.7, P = 0.11). Results were compatible with a higher reduction of hunger score with exenatide compared with placebo (estimated treatment difference in change from baseline to week 26: -2.3, 95% CI -4.5 to -0.2), while all other outcomes did not significantly differ between groups. Adverse events were more common with exenatide versus placebo, and occurred in, respectively, 19 (95%) participants (108 events) and 14 (70%) participants (54 events).
Conclusions and relevance: Combined with intensive lifestyle interventions, a 26-week treatment with exenatide was not demonstrated superior to placebo to treat craniopharyngioma-related obesity.
研究目的我们的目的是研究GLP-1类似物与安慰剂相比对颅咽管瘤相关肥胖症（CRO）成人患者的疗效：设计：我们在法国11所大学医院中心开展了一项双盲多中心优效随机临床试验：经过 4 周的磨合期后，40 名在过去一年中没有复发迹象的 CRO（体重指数大于 30 kg/m²）成人患者被随机分配接受艾塞那肽（20 人）或安慰剂（20 人）皮下注射，每天两次。意向治疗人群的主要结果是第26周时体重的平均变化。次要结果包括饮食行为、卡路里摄入量、能量消耗、心血管、代谢风险因素、生活质量和耐受情况：第26周时，艾塞那肽治疗组的体重与基线相比平均下降了-3.8（标准差4.3）公斤，安慰剂治疗组的体重与基线相比平均下降了-1.6（3.8）公斤。调整后的平均治疗差异为-3.1千克（95% CI -7.0至0.7，P = 0.11）。结果显示，与安慰剂相比，艾塞那肽能更大程度地降低饥饿感评分（从基线到第26周的变化估计治疗差异为-2.3（95% CI -4.5至-0.2）），而所有其他结果在组间无显著差异。与安慰剂相比，艾塞那肽的不良反应更常见，分别有19名（95%）参与者（108起）和14名（70%）参与者（54起）发生：结论：结合强化生活方式干预措施，在治疗颅咽管瘤相关肥胖症方面，为期26周的艾塞那肽治疗未被证明优于安慰剂。
{"title":"Impact of exenatide on weight loss and eating behavior in adults with craniopharyngioma-related obesity: the CRANIOEXE randomized placebo-controlled trial.","authors":"Blandine Gatta-Cherifi, Kamel Mohammedi, Tanguy Cariou, Christine Poitou, Philippe Touraine, Gerald Raverot, Thierry Brue, Philippe Chanson, Frédéric Illouz, Solange Grunenwald, Olivier Chabre, Emmanuel Sonnet, Thomas Cuny, Jerôme Bertherat, Sébastien Czernichow, Eric Frison, Antoine Tabarin","doi":"10.1093/ejendo/lvae024","DOIUrl":"10.1093/ejendo/lvae024","url":null,"abstract":"<p><strong>Importance: </strong>A major issue in the management of craniopharyngioma-related obesity (CRO) is the ineffectiveness of the current therapeutic approaches.</p><p><strong>Objective: </strong>To study the efficacy of glucagon-like peptide-1 analogs compared with placebo in adults with obesity CRO.</p><p><strong>Design: </strong>A double-blind multicenter superiority randomized clinical in trial in two parallel arms.</p><p><strong>Setting: </strong>Eleven French University Hospital Centers.</p><p><strong>Participants: </strong>Adults with CRO (body mass index > 30 kg/m²) without the sign of recurrence of craniopharyngioma in the past year.</p><p><strong>Interventions: </strong>Exenatide or placebo injected subcutaneously twice a day during 26 weeks.</p><p><strong>Main outcomes and measures: </strong>The primary outcome was the mean change in body weight at week 26 in the intention-to-treat population. Secondary outcomes were eating behavior, calories intake, energy expenditure, cardiovascular, metabolic risk factor, quality of life, and the tolerance profile.</p><p><strong>Results: </strong>At week 26, weight decreased from baseline by a mean of -3.8 (SD 4.3) kg for exenatide and -1.6 (3.8) kg for placebo. The adjusted mean treatment difference was -3.1 kg (95% confidence interval [CI] -7.0 to 0.7, P = 0.11). Results were compatible with a higher reduction of hunger score with exenatide compared with placebo (estimated treatment difference in change from baseline to week 26: -2.3, 95% CI -4.5 to -0.2), while all other outcomes did not significantly differ between groups. Adverse events were more common with exenatide versus placebo, and occurred in, respectively, 19 (95%) participants (108 events) and 14 (70%) participants (54 events).</p><p><strong>Conclusions and relevance: </strong>Combined with intensive lifestyle interventions, a 26-week treatment with exenatide was not demonstrated superior to placebo to treat craniopharyngioma-related obesity.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140049025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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