EndocrinePub Date : 2025-03-03DOI: 10.1007/s12020-025-04187-x
Juan J Díez, Emma Anda, Begoña Pérez-Corral, Miguel Paja, Victoria Alcázar, Cecilia Sánchez-Ragnarsson, Aida Orois, Ana R Romero-Lluch, Marcel Sambo, Amelia Oleaga, Águeda Caballero, María R Alhambra, Virginia Urquijo, Ana M Delgado-Lucio, José C Fernández-García, Viyey K Doulatram-Gamgaram, Suset Dueñas-Disotuar, Tomás Martín, Mercedes Peinado, Julia Sastre
{"title":"Impaired renal function in patients with permanent hypoparathyroidism after thyroidectomy: analysis of a nationwide cohort in Spain.","authors":"Juan J Díez, Emma Anda, Begoña Pérez-Corral, Miguel Paja, Victoria Alcázar, Cecilia Sánchez-Ragnarsson, Aida Orois, Ana R Romero-Lluch, Marcel Sambo, Amelia Oleaga, Águeda Caballero, María R Alhambra, Virginia Urquijo, Ana M Delgado-Lucio, José C Fernández-García, Viyey K Doulatram-Gamgaram, Suset Dueñas-Disotuar, Tomás Martín, Mercedes Peinado, Julia Sastre","doi":"10.1007/s12020-025-04187-x","DOIUrl":"https://doi.org/10.1007/s12020-025-04187-x","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to assess the decline in renal function in patients with chronic postoperative hypoparathyroidism.</p><p><strong>Methods: </strong>We performed a multicenter, retrospective cohort study including patients with chronic hypoparathyroidism lasting ≥ 3 years. We evaluated the changes in serum creatinine and estimated glomerular filtration rate (eGFR) before surgery and at the last visit. Changes were evaluated in absolute value (ΔeGFR = eGFR at last visit - eGFR before thyroidectomy) and corrected for time (ΔeGFR/yr = ΔeGFR / time in years).</p><p><strong>Results: </strong>We included 236 patients with hypoparathyroidism (85.6% women, median age 47 [37-58] years, median time of follow-up 7.3 [5.0-11.0] years), and 458 control subjects with similar age, gender, and time of follow-up. Before thyroidectomy we found no significant differences in serum creatinine levels or eGFR between patients and controls. At the end of follow-up, ΔeGFR and ΔeGFR/yr in the patients with hypoparathyroidism were -4.87 (-17.0-0.00) ml/min/1.73 m<sup>2</sup> and -0.68 (-2.31-0.00) ml/min/1.73 m<sup>2</sup> per year, respectively, whereas in the control subjects these changes were 0.00 (-10.10-4.00) ml/min/1.73 m<sup>2</sup> (P < 0.001), and 0.00 (-1.34-0.54) ml/min/1.73 m<sup>2</sup> per year (P < 0.001). In multivariable regression analysis the annual eGFR decline in patients with hypoparathyroidism was related to age (P < 0.001), eGFR before thyroidectomy (P < 0.001), and incident nephrolithiasis (P = 0.028).</p><p><strong>Conclusion: </strong>The decline in renal function over time is significantly higher in patients with chronic hypoparathyroidism after thyroidectomy compared to thyroidectomized patients without hypoparathyroidism. Age, preoperative eGFR and nephrolithiasis are the main determinants of renal function loss in these patients.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2025-03-03DOI: 10.1007/s12020-025-04210-1
Carlos Eduardo Santa Ritta Barreira, Andre Povoa Miranda, Thaísa Fabiana Peixoto, Rodrigo Nascimento Pinheiro
{"title":"Indocyanine green angiography to evaluate immediate hypoparathyroidism after thyroid cancer surgery.","authors":"Carlos Eduardo Santa Ritta Barreira, Andre Povoa Miranda, Thaísa Fabiana Peixoto, Rodrigo Nascimento Pinheiro","doi":"10.1007/s12020-025-04210-1","DOIUrl":"https://doi.org/10.1007/s12020-025-04210-1","url":null,"abstract":"<p><strong>Introduction: </strong>Indocyanine green (ICG) fluorescence angiography has been introduced to assess parathyroid perfusion intraoperatively. This study aimed to evaluate whether the number of well-vascularized parathyroid glands identified using ICG fluorescence could predict the maintenance of adequate parathyroid hormone (PTH) levels in the immediate postoperative period.</p><p><strong>Materials and methods: </strong>A retrospective study was conducted on 150 consecutive patients who underwent total thyroidectomy for papillary thyroid cancer between March 2021 and December 2023. Parathyroid perfusion was assessed using ICG fluorescence angiography, and glands were classified on a scale from 0 (no vascularization) to 2 (good vascularization). PTH levels were measured 1 h postoperatively, and biochemical hypoparathyroidism was defined as PTH < 15 pg/dL. Statistical analyses were performed using Fisher's exact test and Chi-square test, with p < 0.05 considered significant.</p><p><strong>Results: </strong>Transient biochemical hypoparathyroidism occurred in 34.7% of patients. Among patients with two or more well-vascularized parathyroid glands (score 2), 70.2% did not experience a decrease in parathyroid hormone levels below 15 pg/mL (NPV 70.2%, 95% CI: 62.4-78.1%). However, 29.8% of patients with two or more well-vascularized glands still developed hypoparathyroidism, highlighting the limitations of using this metric alone to predict postoperative outcomes. The overall accuracy for predicting hypoparathyroidism was 70% (95% CI: 62.7-77.3%). No patient developed permanent hypoparathyroidism.</p><p><strong>Conclusion: </strong>ICG fluorescence angiography is a reliable tool for assessing parathyroid gland perfusion during thyroidectomy. However, the identification of two or more well-vascularized parathyroid glands does not completely exclude the risk of transient hypoparathyroidism, indicating that additional factors must be considered in predicting postoperative outcomes.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2025-03-01Epub Date: 2024-11-28DOI: 10.1007/s12020-024-04108-4
Klara Pekarova, Jan Schovanek, Roman Dohnal, Martin Radvansky, David Karasek, Marta Karhanova
{"title":"Evaluation of corticoresistance in patients with thyroid eye disease and use of rituximab as a second-line treatment.","authors":"Klara Pekarova, Jan Schovanek, Roman Dohnal, Martin Radvansky, David Karasek, Marta Karhanova","doi":"10.1007/s12020-024-04108-4","DOIUrl":"10.1007/s12020-024-04108-4","url":null,"abstract":"<p><strong>Purpose: </strong>High-dose intravenous glucocorticoids are the standard first-line treatment in active, moderate to severe and severe thyroid eye disease (TED). We evaluate the usefulness of clinical activity score (CAS) and thyroid-stimulating immunoglobulin (TSI) as predictors and/or post-treatment markers of corticoresistance in patients with TED and the effect of rituximab in second-line treatment.</p><p><strong>Methods: </strong>We enrolled 236 patients with an active TED into this retrospective single-tertiary-center cohort study. All patients were initially treated with high-dose systemic glucocorticoids. Rituximab was later administered to 29 of 42 corticoresistant patients.</p><p><strong>Results: </strong>The CAS of the corticoresistant patients was significantly higher both before (p = 0.0001) and after (p = <0.0001) first-line treatment compared to the corticosensitive group. ROC analysis established the cut-point value as CAS ≥ 2.5 with a sensitivity of 96.3%, specificity of 57.5% and area under the curve of 82.8%. In 22 patients treated with rituximab, CAS gradually decreased to zero values without reactivation during extended follow-up. There was no difference in the TSI of corticosensitive and corticoresistant patients before or after first-line therapy.</p><p><strong>Conclusion: </strong>CAS ≥ 2, after first-line treatment, could be used as a corticoresistance marker. Corticoresistant patients should be subject to long-term follow-up for early detection of reactivation to reduce the delay to second-line treatment. Rituximab is a well-tolerated choice of second-line treatment and has a long-lasting effect on disease activity. Although TSI is a valuable biomarker of Graves' disease and TED activity, according to our results, TSI cannot be used as a marker of corticoresistance.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1112-1119"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11845400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2025-03-01Epub Date: 2024-11-29DOI: 10.1007/s12020-024-04114-6
Fernanda Accioly de Andrade, Daniel Bulzico, Rossana Corbo, Fernanda Vaisman
{"title":"Is peptide receptor radionuclide therapy still a promising option for medullary thyroid carcinoma?","authors":"Fernanda Accioly de Andrade, Daniel Bulzico, Rossana Corbo, Fernanda Vaisman","doi":"10.1007/s12020-024-04114-6","DOIUrl":"10.1007/s12020-024-04114-6","url":null,"abstract":"<p><p>Medullary thyroid carcinoma (MTC) is a rare cancer that originates from germline RET proto-oncogene mutations in all hereditary forms and from somatic RET mutations in most sporadic cases. Currently, highly selective RET inhibitors have been approved for clinical use in patients with RET mutations with persistent, recurrent or metastatic disease. This therapy has proven efficacy, low toxicity, and a limited impact on patients' quality of life. However, for recurrent or metastatic RET-negative disease, few systemic therapies are available. Multikinase inhibitors are used; however, tumour cells frequently develop resistance mechanisms, or treatment must be discontinued due to the high incidence of side effects. In this context, peptide receptor radionuclide therapy (PRRT) may be a treatment option, but its clinical utility remains under investigation. The aim of this review is to evaluate the evidence of PRRT in MTC and discuss its limitations in the RET inhibitor era.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"943-950"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Is there still a place for etomidate in the management of Cushing's syndrome? The experience of a single center of low-dose etomidate and combined etomidate-osilodrostat treatment in severe hypercortisolemia.","authors":"Lukasz Dzialach, Joanna Sobolewska, Wioleta Respondek, Agnieszka Wojciechowska-Luzniak, Pawel Kuca, Przemysław Witek","doi":"10.1007/s12020-024-04135-1","DOIUrl":"10.1007/s12020-024-04135-1","url":null,"abstract":"<p><strong>Purpose: </strong>Severe Cushing's syndrome (SCS) is a life-threatening endocrine condition that requires prompt medical intervention. Intravenous etomidate infusion is considered to be the most effective in rapid cortisol overproduction inhibition. This single-center retrospective study aimed to present the safety and effectiveness of intravenous, low-dose, lipid-formulated etomidate infusion in patients with SCS.</p><p><strong>Methods: </strong>Seven patients with complicated SCS related to ectopic ACTH syndrome (n = 6) or Cushing's disease (n = 1) who received low-dose etomidate infusion as a part of their cortisol-lowering treatment between April 2019 and April 2024 in the Department of Internal Medicine, Endocrinology and Diabetes of Medical University of Warsaw were included in the study. A continuous etomidate infusion was initiated at 0.01-0.02 mg/kg/h.</p><p><strong>Results: </strong>In all patients, rapid control of hypercortisolemia was achieved with a median time of 30 h (range: 12-48 h). Median serum cortisol concentration reduced from 101.9 μg/dL (range: 78.2-119.6 μg/dL) before etomidate to 19.5 μg/dL (range: 18.3-22.5) after 72 h of etomidate treatment. Etomidate infusion was followed by etomidate and osilodrostat combined treatment and then osilodrostat monotherapy in four patients; one patient underwent adrenalectomy, and two patients died during etomidate infusion due to complications of advanced malignancy.</p><p><strong>Conclusions: </strong>This study shows that low-dose and short-term lipid formulation etomidate therapy is highly effective in severe hypercortisolemia management. Combined therapy with etomidate and osilodrostat is well tolerated and could serve as a bridge in long-term SCS treatment.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1305-1313"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11845398/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2025-03-01Epub Date: 2024-11-05DOI: 10.1007/s12020-024-04086-7
Ekin Yiğit Köroğlu, Reyhan Ersoy, Muhammed Saçıkara, Fatma Dilek Dellal Kahramanca, Şefika Burçak Polat, Oya Topaloğlu, Bekir Çakır
{"title":"Evaluation of the impact Of ChatGPT support on acromegaly management and patient education.","authors":"Ekin Yiğit Köroğlu, Reyhan Ersoy, Muhammed Saçıkara, Fatma Dilek Dellal Kahramanca, Şefika Burçak Polat, Oya Topaloğlu, Bekir Çakır","doi":"10.1007/s12020-024-04086-7","DOIUrl":"10.1007/s12020-024-04086-7","url":null,"abstract":"<p><strong>Purpose: </strong>ChatGPT is a widely used artificial intelligence modeling tool. Healthcare is one potential area of use of ChatGPT. This study aimed to test the usability and reliability of ChatGPT in acromegaly, which is less known in society and should be evaluated by a group of specialized physicians.</p><p><strong>Methods: </strong>The study is designed in two parts. For the first part, 35 questions regarding acromegaly that patients frequently ask were identified, and these questions were asked to ChatGPT. In the second part, four patient examples were presented to ChatGPT using medical terminology. Three experts evaluated ChatGPT's answers to the questions and approaches in case management using 7-point scales in terms of safety, reliability, correctness, and usability.</p><p><strong>Results: </strong>When the ChatGPT answers to the patient's questions were evaluated, a mean score of 6.78 ± 0.55 was given for correctness and 6.69 ± 0.60 for reliability. The mean scores given by the raters for correctness, safety and usability in the evaluation of the cases were as follows: 6.33 ± 0.88, 6.16 ± 0. 71 and 6.08 ± 0.79 points for case 1; 5.35 ± 1.88, 5.29 ± 1.80 and 5.20 ± 1.86 points for case 2; 6.08 ± 0.97, 6.00 ± 0.93 and 5.91 ± 0.82 points for case 3; 6.10 ± 1.29, 6.13 ± 1.30 and 6.16 ± 1.14 points for case 4.</p><p><strong>Conclusion: </strong>ChatGPT can actively answer the questions of acromegaly patients. Although it is not a reliable source alone in managing patients with acromegaly, it can be a supportive tool for physicians.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1141-1149"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142577072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2025-03-01Epub Date: 2024-10-19DOI: 10.1007/s12020-024-04079-6
Krystallenia I Alexandraki, Eirini Papadimitriou, Ariadni Spyroglou, Angeliki Karapanagioti, Ioanna Antonopoulou, Irini Theohari, Odysseas Violetis, Georgios C Sotiropoulos, Stamatios Theocharis, Gregory A Kaltsas
{"title":"Immunohistochemical expression of ephrin receptors in neuroendocrine neoplasms: a case-series of gastroenteropancreatic neuroendocrine neoplasms and a systematic review of the literature.","authors":"Krystallenia I Alexandraki, Eirini Papadimitriou, Ariadni Spyroglou, Angeliki Karapanagioti, Ioanna Antonopoulou, Irini Theohari, Odysseas Violetis, Georgios C Sotiropoulos, Stamatios Theocharis, Gregory A Kaltsas","doi":"10.1007/s12020-024-04079-6","DOIUrl":"10.1007/s12020-024-04079-6","url":null,"abstract":"<p><strong>Purpose: </strong>Erythropoietin-producing hepatocellular (EPH) receptors are the largest known family of tyrosine kinases receptors (TKR) in humans, implicated in cell proliferation, adhesion, migration, tumor angiogenesis, invasion and metastasis. The aim of the present study is to assess the expression of EPHs in neuroendocrine neoplasms (NENs).</p><p><strong>Methods: </strong>Immunohistochemical staining of specimens of 30 patients with gastroenteropancreatic and lung NENs was performed for EPH-A1, EPH-A2, EPH-A4, EPH-A5 protein expression, in addition to ki-67 multiplication index and programmed death-ligand 1. Additionally, we performed a systematic review of the available literature in three different databases reporting on the expression of EPH in all neuroendocrine neoplasms.</p><p><strong>Results: </strong>Positive expression was seen in 16/19 (84%) specimens for EPH-A1, 15/23 (65%) for EPH-A2, 21/24 (88%) for EPH-A4, 24/26 (92%) for EPH-A5. EPH-A1 was expressed in 9/9 pancreatic, 3/4 small intestine, but not in one lung NEN, EPH-A2 in 5/10 pancreatic, 3/4 small intestine and lung, and in one of each of gastric, appendix, colorectal, and cervical NENs, respectively. EPH-A4 showed positive expression in 9/11 pancreatic, 4/4 small intestine, 3/3 lung specimens and EPH-A5 in 10/11, 4/4 and 4/4, respectively. Data retrieved from the systematic review of the literature in combination with the data from the present study are suggestive of a frequent EPH expression in pituitary, thyroid, lung and gastroenteropancreatic NENs, yet, with varying expressions of the single receptor subtypes.</p><p><strong>Conclusion: </strong>EPHs may have a role in NEN tumorigenesis, prognosis as well as a role in the evolving molecular-targeted therapies.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1323-1332"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2025-03-01Epub Date: 2024-10-15DOI: 10.1007/s12020-024-04070-1
Stavroula Psachna, Maria Eleni Chondrogianni, Konstantinos Stathopoulos, Antonis Polymeris, Antonios Chatzigeorgiou, Efstathios Chronopoulos, Symeon Tournis, Eva Kassi
{"title":"The effect of antidiabetic drugs on bone metabolism: a concise review.","authors":"Stavroula Psachna, Maria Eleni Chondrogianni, Konstantinos Stathopoulos, Antonis Polymeris, Antonios Chatzigeorgiou, Efstathios Chronopoulos, Symeon Tournis, Eva Kassi","doi":"10.1007/s12020-024-04070-1","DOIUrl":"10.1007/s12020-024-04070-1","url":null,"abstract":"<p><p>Diabetes mellitus (DM) is a complex metabolic disorder characterized by chronic hyperglycemia, which derives from either insufficient insulin production [type 1 diabetes mellitus (T1DM)] or both impaired insulin sensitivity along with inadequate insulin production [type 2 diabetes mellitus (T2DM)] and affects millions of people worldwide. In addition to the adverse effects of DM on classical target organs and tissues, skeletal health can also be adversely affected. There is considerable evidence linking DM with osteoporosis. The fracture risk in patients with DM differs upon the type of diabetes, and it appears to be related to the type of anti-diabetic treatment. Antidiabetic drugs may have various effects on bone health. Most of them have neutral or even favorable effects on bone metabolism with the exception of thiazolidinediones (TZDs). Some studies suggest that TZDs may have negative impact on bone health by decreasing bone formation and increasing the fracture risk. There are also limited studies linking the use of canagliflozin, a Sodium-glucose contransporter-2 inhibitor (SGLT2i), with increased fracture risk. On the other hand, therapies that are based on incretin effect, like Dipeptidyl peptidase-4 inhibitors (DPP-4i) and Glucagon-like peptide-1 receptor agonizts (GLP-1RAs) might have positive effects on bone health by promoting bone formation. Herein we review the impact of antidiabetic drugs on bone health, highlighting the potential benefits and risks associated with these medications in an attempt to contribute to the development of personalized treatment strategies for individuals with DM.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"907-919"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2025-03-01Epub Date: 2024-11-29DOI: 10.1007/s12020-024-04120-8
Jan Calissendorff, Henrik Falhammar
{"title":"Renal pseudohypoaldosteronism type 1-an adult case series including a novel gene variant.","authors":"Jan Calissendorff, Henrik Falhammar","doi":"10.1007/s12020-024-04120-8","DOIUrl":"10.1007/s12020-024-04120-8","url":null,"abstract":"<p><strong>Purpose: </strong>Renal pseudohypoaldosteronism type 1 (PHA1) is a rare disease affecting infants. Symptoms are failure to thrive, vomiting, and weight loss. It is caused by gene variants in NR3C2 by which the mineralocorticoid receptor is dysfunctional, and patients develop hyponatremia, elevated plasma aldosterone, and renin but have normal blood pressure. Little is known about PHA1 in adults. We present four adults with PHA1, their clinical, biochemistry, and genetic data.</p><p><strong>Methods: </strong>Clinical and biochemical data were collected from the medical files and clinical examination of the participants. Genetic testing was performed.</p><p><strong>Results: </strong>Two adult dizygotic twins and their mother, as well as an adult man were included. One of the sisters and the man had had severe hyponatremia and been admitted several times as young infants, treated with sodium chloride and fludrocortisone. All had as adults elevated plasma aldosterone and normal sodium. The females now had normal plasma renin, but it was increased in the male. A novel genetic variant in NR3C2 was found in the twins and their mother (c.1816T>C, p.(Cys606Arg)). All had normal blood pressure and were asymptomatic.</p><p><strong>Conclusion: </strong>In adulthood, PHA1 seems to be asymptomatic and long-term consequences favorable.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1285-1290"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2025-03-01Epub Date: 2024-10-16DOI: 10.1007/s12020-024-04069-8
Madhumanti Barman, Nelli Giribabu, Naguib Salleh
{"title":"Roles of thyroid and leptin hormones and their crosstalk in male reproductive functions: an updated review.","authors":"Madhumanti Barman, Nelli Giribabu, Naguib Salleh","doi":"10.1007/s12020-024-04069-8","DOIUrl":"10.1007/s12020-024-04069-8","url":null,"abstract":"<p><strong>Purpose: </strong>This review aims to provide updated information regarding the role of thyroid and leptin hormones and their crosstalk in affecting the male reproductive function in hypothyroid and obesity conditions.</p><p><strong>Method: </strong>A wide literature search was made using online search engines on published articles using keywords including thyroid hormone, hypothyroidism, leptin hormone, hyperleptinemia, obesity, the relationship between thyroid and leptin hormones and male reproduction, and hypothyroidism, obesity, and male reproduction.</p><p><strong>Results: </strong>All information pertaining thyroid and leptin hormone effects on male reproduction, hypothyroidism, hyperleptinemia, and obesity effect on male fertility as well as the related molecular mechanisms are obtained.</p><p><strong>Conclusion: </strong>Thyroid and leptin hormones individually play a significant role in male reproduction. Alterations of these hormones' levels could adversely affect the male reproductive functions. PI3K/AKT signaling was found to be the major signaling pathway involved in mediating the effect of both hormones on male reproduction. Impaired crosstalk between the two hormones may occur in hypothyroidism with obesity which would contribute towards male reproductive dysfunction.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"891-906"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}