Pub Date : 2025-03-01DOI: 10.1016/j.beem.2024.101967
Piyush Aggarwal, Vinisha Gunasekaran, Ashwani Sood, Bhagwant Rai Mittal
Primary hyperparathyroidism is the main cause of hypercalcemia, resulting predominantly from parathyroid adenomas followed by hyperplasia. Diagnosis relies on clinical and biochemical parameters. Accurate pre-operative localization is mandatory for better surgical outcome. Various non-invasive imaging modalities includes cervical ultrasound, radionuclide scintigraphy with 99mTc-Methoxyisobutyl isonitrile combined with SPECT/CT, 4DCT, MRI and 18F-Choline PET/CT. Functional imaging has shown higher accuracy in localization especially in ectopic parathyroid adenomas and persistent or recurrent hyperparathyroidism. Combined ultrasound and 99mTc-MIBI has shown high sensitivity and specificity than individual imaging modality. 18F-Choline PET/CT has better diagnostic performance in identifying parathyroid hyperplasia and multiple adenomas. In patients with equivocal findings and concurrent thyroid nodular diseases, 18F-Choline PET/MRI and 4DCT helps in better characterization of lesion. Intraoperative probe guided surgery facilitates targeted and minimally invasive surgery resulting in better surgical outcome. More specific radiopharmaceuticals for parathyroid imaging need to be developed to reduce false positive results.
{"title":"Localization in primary hyperparathyroidism","authors":"Piyush Aggarwal, Vinisha Gunasekaran, Ashwani Sood, Bhagwant Rai Mittal","doi":"10.1016/j.beem.2024.101967","DOIUrl":"10.1016/j.beem.2024.101967","url":null,"abstract":"<div><div>Primary hyperparathyroidism is the main cause of hypercalcemia, resulting predominantly from parathyroid adenomas followed by hyperplasia. Diagnosis relies on clinical and biochemical parameters. Accurate pre-operative localization is mandatory for better surgical outcome. Various non-invasive imaging modalities includes cervical ultrasound, radionuclide scintigraphy with <sup>99m</sup>Tc-Methoxyisobutyl isonitrile combined with SPECT/CT, 4DCT, MRI and <sup>18</sup>F-Choline PET/CT. Functional imaging has shown higher accuracy in localization especially in ectopic parathyroid adenomas and persistent or recurrent hyperparathyroidism. Combined ultrasound and <sup>99m</sup>Tc-MIBI has shown high sensitivity and specificity than individual imaging modality. <sup>18</sup>F-Choline PET/CT has better diagnostic performance in identifying parathyroid hyperplasia and multiple adenomas. In patients with equivocal findings and concurrent thyroid nodular diseases, <sup>18</sup>F-Choline PET/MRI and 4DCT helps in better characterization of lesion. Intraoperative probe guided surgery facilitates targeted and minimally invasive surgery resulting in better surgical outcome. More specific radiopharmaceuticals for parathyroid imaging need to be developed to reduce false positive results.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101967"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928740","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}
Pub Date : 2025-03-01DOI: 10.1016/j.beem.2025.101984
Ashna Grover , Smita Jha
Familial or heritable hyperparathyroidism (FHPT) is seen in approximately 10–15 % of patients with primary hyperparathyroidism (PHPT). Once the diagnosis of PHPT is established, consideration of heritable forms should be made in patients with positive family history, young onset, multi-glandular disease, and recurrent or persistent disease. FHPT encompasses both syndromic and non-syndromic forms. Syndromic forms include multiple endocrine neoplasia (MEN) types 1, 2, 3 and 4, hyperparathyroidism-jaw tumor syndrome, hereditary pheochromocytoma and paraganglioma, and the more recently reported, Birt-Hogg-Dubé (BHD) syndrome, and X-linked intellectual disability syndrome. Non-syndromic forms include familial hypocalciuric hypercalcemia (FHH)- types 1,2, and 3, neonatal severe hyperparathyroidism, GCM2-mediated hyperparathyroidism, transient neonatal hyperparathyroidism, and familial isolated hyperparathyroidism. In this review we aim to review the heritable forms of PHPT and highlight the important genetics insights and clinical implications.
{"title":"Heritable hyperparathyroidism: Genetic insights and clinical implications","authors":"Ashna Grover , Smita Jha","doi":"10.1016/j.beem.2025.101984","DOIUrl":"10.1016/j.beem.2025.101984","url":null,"abstract":"<div><div>Familial or heritable hyperparathyroidism (FHPT) is seen in approximately 10–15 % of patients with primary hyperparathyroidism (PHPT). Once the diagnosis of PHPT is established, consideration of heritable forms should be made in patients with positive family history, young onset, multi-glandular disease, and recurrent or persistent disease. FHPT encompasses both syndromic and non-syndromic forms. Syndromic forms include multiple endocrine neoplasia (MEN) types 1, 2, 3 and 4, hyperparathyroidism-jaw tumor syndrome, hereditary pheochromocytoma and paraganglioma, and the more recently reported, Birt-Hogg-Dubé (BHD) syndrome, and X-linked intellectual disability syndrome. Non-syndromic forms include familial hypocalciuric hypercalcemia (FHH)- types 1,2, and 3, neonatal severe hyperparathyroidism, <em>GCM2</em>-mediated hyperparathyroidism, transient neonatal hyperparathyroidism, and familial isolated hyperparathyroidism. In this review we aim to review the heritable forms of PHPT and highlight the important genetics insights and clinical implications.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101984"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588583","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}
Pub Date : 2025-03-01DOI: 10.1016/j.beem.2024.101966
Abhishek Viswanath , Eftychia E. Drakou , Fannie Lajeunesse-Trempe , Ashley B. Grossman , Georgios K. Dimitriadis
Parathyroid carcinoma (PC) is a rare malignancy, comprising 1 % of all cases of primary hyperparathyroidism (PHPT). This narrative review explores recent advances in PC management, with a focus on molecular insights, diagnostic advancements, surgical innovations, and emerging targeted therapies. Manuscripts published between 2023 and 2024 were obtained from PubMed, EMBASE, and the Cochrane Central Register of Controlled Trials (CENTRAL). The review highlights advances in biochemical markers, such as circulating tumour cells (CTCs), and imaging modalities such as 18F-FDG PET/CT and 4D-CT, which are improving diagnostic accuracy. Surgical resection remains central to localised and metastatic disease management. For patients with widespread metastatic or unresectable disease, newer targeted approaches such as tyrosine kinase inhibitors (TKIs), temozolomide, and immune checkpoint inhibitors (ICIs) may offer clinical benefit to specific patient cohorts. This review identifies future research areas to improve outcomes and recommends that patients with advanced PC continue to be managed in centres of excellence.
{"title":"Parathyroid carcinoma: New insights","authors":"Abhishek Viswanath , Eftychia E. Drakou , Fannie Lajeunesse-Trempe , Ashley B. Grossman , Georgios K. Dimitriadis","doi":"10.1016/j.beem.2024.101966","DOIUrl":"10.1016/j.beem.2024.101966","url":null,"abstract":"<div><div>Parathyroid carcinoma (PC) is a rare malignancy, comprising 1 % of all cases of primary hyperparathyroidism (PHPT). This narrative review explores recent advances in PC management, with a focus on molecular insights, diagnostic advancements, surgical innovations, and emerging targeted therapies. Manuscripts published between 2023 and 2024 were obtained from PubMed, EMBASE, and the Cochrane Central Register of Controlled Trials (CENTRAL). The review highlights advances in biochemical markers, such as circulating tumour cells (CTCs), and imaging modalities such as <sup>18</sup>F-FDG PET/CT and 4D-CT, which are improving diagnostic accuracy. Surgical resection remains central to localised and metastatic disease management. For patients with widespread metastatic or unresectable disease, newer targeted approaches such as tyrosine kinase inhibitors (TKIs), temozolomide, and immune checkpoint inhibitors (ICIs) may offer clinical benefit to specific patient cohorts. This review identifies future research areas to improve outcomes and recommends that patients with advanced PC continue to be managed in centres of excellence.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101966"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01DOI: 10.1016/j.beem.2025.101980
Durairaj Arjunan , Salvatore Minisola , Sudhaker D. Rao , Sanjay K. Bhadada
Primary hyperparathyroidism (PHPT), the third most common endocrine disorder, was so eloquently described first by Fuller Albright as a polymorphic condition in his classic paper and monograph as early as 1934. Over the decades, the clinical presentation of PHPT in developed countries has shifted significantly from a disease primarily affecting the bones and kidneys to an asymptomatic condition often discovered incidentally. In developing countries, the high prevalence of vitamin D deficiency is one of the main factors influencing the clinical presentation of PHPT. In Europe and North America, PHPT is predominantly asymptomatic. In South America, China, and Eastern parts of Europe, such as Turkey, Bulgaria, and Russia, there is an ongoing transition from symptomatic to asymptomatic cases. Asia shows variability: symptomatic cases dominate in the Indian subcontinent, Middle East, and Southeast Asia, while transitional patterns with predominant asymptomatic cases have now been reported in China, and Japan reports mostly asymptomatic cases. Factors influencing these changes include advancements in diagnostic technologies, detection of incidental parathyroid adenomas during thyroid ultrasonography, regional differences in vitamin D deficiency, dietary habits, and genetic polymorphisms in vitamin D and calcium-sensing receptors. A higher prevalence of nephrolithiasis in certain climates contributes to regional variations. This review examines the dynamic nature of PHPT's clinical presentation, shaped by geographic, genetic, and environmental influences. Also, this review highlights the importance of addressing global disparities in an attempt to optimize patient outcomes.
{"title":"Changing trends in clinical presentation of primary hyperparathyroidism across countries over time","authors":"Durairaj Arjunan , Salvatore Minisola , Sudhaker D. Rao , Sanjay K. Bhadada","doi":"10.1016/j.beem.2025.101980","DOIUrl":"10.1016/j.beem.2025.101980","url":null,"abstract":"<div><div>Primary hyperparathyroidism (PHPT), the third most common endocrine disorder, was so eloquently described first by Fuller Albright as a polymorphic condition in his classic paper and monograph as early as 1934. Over the decades, the clinical presentation of PHPT in developed countries has shifted significantly from a disease primarily affecting the bones and kidneys to an asymptomatic condition often discovered incidentally. In developing countries, the high prevalence of vitamin D deficiency is one of the main factors influencing the clinical presentation of PHPT. In Europe and North America, PHPT is predominantly asymptomatic. In South America, China, and Eastern parts of Europe, such as Turkey, Bulgaria, and Russia, there is an ongoing transition from symptomatic to asymptomatic cases. Asia shows variability: symptomatic cases dominate in the Indian subcontinent, Middle East, and Southeast Asia, while transitional patterns with predominant asymptomatic cases have now been reported in China, and Japan reports mostly asymptomatic cases. Factors influencing these changes include advancements in diagnostic technologies, detection of incidental parathyroid adenomas during thyroid ultrasonography, regional differences in vitamin D deficiency, dietary habits, and genetic polymorphisms in vitamin D and calcium-sensing receptors. A higher prevalence of nephrolithiasis in certain climates contributes to regional variations. This review examines the dynamic nature of PHPT's clinical presentation, shaped by geographic, genetic, and environmental influences. Also, this review highlights the importance of addressing global disparities in an attempt to optimize patient outcomes.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101980"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143371407","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}
Primary hyperparathyroidism is a common endocrine disorder characterized by inappropriate elevation of parathyroid hormone and hypercalcemia. While predominantly an asymptomatic disease in Western populations, symptomatic presentations are more prevalent in Eastern countries. The molecular pathogenesis of sporadic PHPT primarily involves genetic and epigenetic alterations leading to abnormal parathyroid cell proliferation and altered calcium sensing mechanism. To date, MEN1 and cyclin D1 are the only established drivers of sporadic PHPT. Somatic MEN1 gene mutations occur in 30–40 % of sporadic parathyroid adenomas (PA), with a recent study on symptomatic cases reporting germline variants.Cyclin D1 overexpression in sporadic PA has been observed in 20–40 % of cases in Western populations and 80 % of cases in Eastern populations, with an inverse association with cyclin-dependent kinase inhibitors CDKN2A and CDKN2B expression. The calcium-sensing receptor expression was significantly lower in symptomatic compared to asymptomatic PHPT, strongly supported by epigenetic deregulation (promoter hypermethylation and histone methylation). Recent studies have highlighted the potential involvement of EZH2, a histone methyltransferase, in parathyroid tumorigenesis. Additionally, parathyroid-specific transcription factors like GCM2, PAX1, and GATA3 are emerging as putative tumor suppressors, especially from the symptomatic PHPT. Next-generation sequencing has identified novel potential drivers such as PIK3CA, MTOR, and NF1 in sporadic PC, alongside CDC73. The molecular landscape of sporadic PHPT appears to differ between Eastern and Western populations. This heterogeneity underscores the need for further large-scale studies, particularly in symptomatic cases from developing nations, to comprehensively elucidate the molecular drivers of parathyroid tumorigenesis.
{"title":"Molecular basis of symptomatic sporadic primary hyperparathyroidism: New frontiers in pathogenesis","authors":"Ashutosh Kumar Arya , Poonam Kumari , Priyanka Singh , Sanjay Kumar Bhadada","doi":"10.1016/j.beem.2025.101985","DOIUrl":"10.1016/j.beem.2025.101985","url":null,"abstract":"<div><div>Primary hyperparathyroidism is a common endocrine disorder characterized by inappropriate elevation of parathyroid hormone and hypercalcemia. While predominantly an asymptomatic disease in Western populations, symptomatic presentations are more prevalent in Eastern countries. The molecular pathogenesis of sporadic PHPT primarily involves genetic and epigenetic alterations leading to abnormal parathyroid cell proliferation and altered calcium sensing mechanism. To date, MEN1 and cyclin D1 are the only established drivers of sporadic PHPT. Somatic MEN1 gene mutations occur in 30–40 % of sporadic parathyroid adenomas (PA), with a recent study on symptomatic cases reporting germline variants.Cyclin D1 overexpression in sporadic PA has been observed in 20–40 % of cases in Western populations and 80 % of cases in Eastern populations, with an inverse association with cyclin-dependent kinase inhibitors CDKN2A and CDKN2B expression. The calcium-sensing receptor expression was significantly lower in symptomatic compared to asymptomatic PHPT, strongly supported by epigenetic deregulation (promoter hypermethylation and histone methylation). Recent studies have highlighted the potential involvement of EZH2, a histone methyltransferase, in parathyroid tumorigenesis. Additionally, parathyroid-specific transcription factors like GCM2, PAX1, and GATA3 are emerging as putative tumor suppressors, especially from the symptomatic PHPT. Next-generation sequencing has identified novel potential drivers such as PIK3CA, MTOR, and NF1 in sporadic PC, alongside CDC73. The molecular landscape of sporadic PHPT appears to differ between Eastern and Western populations. This heterogeneity underscores the need for further large-scale studies, particularly in symptomatic cases from developing nations, to comprehensively elucidate the molecular drivers of parathyroid tumorigenesis.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101985"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588584","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}
Pub Date : 2025-03-01DOI: 10.1016/j.beem.2025.101982
Francesca Marini , Francesca Giusti , Maria Luisa Brandi
Primary hyperparathyroidism is a constitutive excess of parathyroid hormone (PTH) in the blood, caused by an idiopathic defect of growth and/or function of the parathyroid glands. PHPT is usually an acquired disease, due to the sporadic development of parathyroid hyperplasia, adenoma, and, in extremely rare cases, malignant carcinoma, mainly occurring by the sixth decade of life. In about 5–10 % of cases PHPT manifests in the context of congenital disorders, having a genetic base and occurring much earlier in life, compared to the sporadic counterpart. Congenital PHPT can manifest as isolated PHPT or as syndromic PHPT in the context of complex multiorgan disorders. Non-syndromic inherited PHPT includes Familial Hypocalciuric Hypercalcemia types 1, 2 and 3, Neonatal Severe Primary Hyperparathyroidism, and three different genetic forms of Familial Isolated Hyperparathyroidism, while syndromic inherited PHPT includes Hyperparathyroidism-Jaw Tumor Syndrome and Multiple Endocrine Neoplasias types 1, 2 A and 4.
{"title":"Congenital primary hyperparathyroidism","authors":"Francesca Marini , Francesca Giusti , Maria Luisa Brandi","doi":"10.1016/j.beem.2025.101982","DOIUrl":"10.1016/j.beem.2025.101982","url":null,"abstract":"<div><div>Primary hyperparathyroidism is a constitutive excess of parathyroid hormone (PTH) in the blood, caused by an idiopathic defect of growth and/or function of the parathyroid glands. PHPT is usually an acquired disease, due to the sporadic development of parathyroid hyperplasia, adenoma, and, in extremely rare cases, malignant carcinoma, mainly occurring by the sixth decade of life. In about 5–10 % of cases PHPT manifests in the context of congenital disorders, having a genetic base and occurring much earlier in life, compared to the sporadic counterpart. Congenital PHPT can manifest as isolated PHPT or as syndromic PHPT in the context of complex multiorgan disorders. Non-syndromic inherited PHPT includes Familial Hypocalciuric Hypercalcemia types 1, 2 and 3, Neonatal Severe Primary Hyperparathyroidism, and three different genetic forms of Familial Isolated Hyperparathyroidism, while syndromic inherited PHPT includes Hyperparathyroidism-Jaw Tumor Syndrome and Multiple Endocrine Neoplasias types 1, 2 A and 4.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101982"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411857","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}
Pub Date : 2025-03-01DOI: 10.1016/j.beem.2025.101986
Rasha A.Y. Alnajmi , Dalal S. Ali , Aliya A. Khan
Persistent and recurrent primary hyperparathyroidism (PHPT) represent significant challenges in the management of PHPT. Persistent PHPT is defined as persistence of hypercalcemia following parathyroidectomy (PTX) or the recurrence of hypercalcemia within the first 6 months following surgery. Recurrent PHPT is defined as recurrence of hypercalcemia after 6 months following PTX and requires normalization of serum calcium prior to the recurrence. These conditions are often attributed to missed or ectopic glands, multiglandular disease, surgeon inexperience, or rare causes such as parathyromatosis and parathyroid carcinoma. Diagnosis requires a detailed biochemical evaluation, imaging studies, and exclusion of other causes of hypercalcemia as well as secondary causes of hyperparathyroidism. Preoperative imaging modalities, including neck ultrasound, SPECT-CT with 99m Tc-sestamibi scan, 4D-CT, 18F-Fluorocholine PET/CT, and PET/MRI are helpful in localizing abnormal parathyroid glands in cases requiring repeat surgery. Repeat surgery is associated with higher risk and requires an experienced surgeon. When surgery is not indicated or possible, medical management with cinacalcet and antiresorptive therapies may be considered. This review highlights the etiology, diagnostic approaches, and management strategies for persistent and recurrent PHPT, emphasizing the importance of multidisciplinary care in order to optimize outcomes.
{"title":"Persistence and Recurrence of Primary Hyperparathyroidism","authors":"Rasha A.Y. Alnajmi , Dalal S. Ali , Aliya A. Khan","doi":"10.1016/j.beem.2025.101986","DOIUrl":"10.1016/j.beem.2025.101986","url":null,"abstract":"<div><div>Persistent and recurrent primary hyperparathyroidism (PHPT) represent significant challenges in the management of PHPT. Persistent PHPT is defined as persistence of hypercalcemia following parathyroidectomy (PTX) or the recurrence of hypercalcemia within the first 6 months following surgery. Recurrent PHPT is defined as recurrence of hypercalcemia after 6 months following PTX and requires normalization of serum calcium prior to the recurrence. These conditions are often attributed to missed or ectopic glands, multiglandular disease, surgeon inexperience, or rare causes such as parathyromatosis and parathyroid carcinoma. Diagnosis requires a detailed biochemical evaluation, imaging studies, and exclusion of other causes of hypercalcemia as well as secondary causes of hyperparathyroidism. Preoperative imaging modalities, including neck ultrasound, SPECT-CT with 99m Tc-sestamibi scan, 4D-CT, 18F-Fluorocholine PET/CT, and PET/MRI are helpful in localizing abnormal parathyroid glands in cases requiring repeat surgery. Repeat surgery is associated with higher risk and requires an experienced surgeon. When surgery is not indicated or possible, medical management with cinacalcet and antiresorptive therapies may be considered. This review highlights the etiology, diagnostic approaches, and management strategies for persistent and recurrent PHPT, emphasizing the importance of multidisciplinary care in order to optimize outcomes.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101986"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01DOI: 10.1016/j.beem.2025.101975
Anima Sharma, Saba Samad Memon, Manjiri Karlekar, Tushar Bandgar
Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care. The clinical presentation is predominantly symptomatic worldwide. Unique manifestations in this age group include rickets, short stature, and slipped capital femoral epiphysis. Genotype-specific differences are evident in the adolescent PHPT characteristics. Diagnostic evaluation requires careful interpretation of biochemical and dual-energy X-ray absorptiometry findings using age and gender-specific reference ranges, with targeted screening for syndrome-associated neoplasms. Surgery remains the cornerstone of management. Current knowledge gaps in their management include treatment protocols for multiple endocrine neoplasia type 1-associated PHPT, the efficacy and safety of nonsurgical options, and long-term post-surgical outcomes.
{"title":"Adolescent primary hyperparathyroidism","authors":"Anima Sharma, Saba Samad Memon, Manjiri Karlekar, Tushar Bandgar","doi":"10.1016/j.beem.2025.101975","DOIUrl":"10.1016/j.beem.2025.101975","url":null,"abstract":"<div><div>Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care. The clinical presentation is predominantly symptomatic worldwide. Unique manifestations in this age group include rickets, short stature, and slipped capital femoral epiphysis. Genotype-specific differences are evident in the adolescent PHPT characteristics. Diagnostic evaluation requires careful interpretation of biochemical and dual-energy X-ray absorptiometry findings using age and gender-specific reference ranges, with targeted screening for syndrome-associated neoplasms. Surgery remains the cornerstone of management. Current knowledge gaps in their management include treatment protocols for multiple endocrine neoplasia type 1-associated PHPT, the efficacy and safety of nonsurgical options, and long-term post-surgical outcomes.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101975"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018079","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}
Pub Date : 2025-03-01DOI: 10.1016/j.beem.2025.101983
Rimesh Pal , Soham Mukherjee , Trupti N. Prasad , Sanjay Kumar Bhadada
Primary hyperparathyroidism (PHPT) in pregnancy is rare. The physiological changes that occur in pregnancy often tend to mask the symptoms of PHPT, thereby making diagnosis challenging. If left undiagnosed, PHPT can lead to significant feto-maternal morbidity, which, primarily depends on maternal serum calcium levels. Maternal serum calcium > 11.4 mg/dl increases the risk of incident maternal and fetal complications. The diagnosis of PHPT in pregnancy is based on the documentation of parathyroid hormone-dependent hypercalcemia. Ultrasonography can be safely used to localize the culprit parathyroid lesions; other imaging modalities entailing the risk of exposure to ionizing radiation should preferably be avoided. Treatment involves parathyroid surgery (preferably performed in the second trimester) and/or medical management (hydration, use of calcium-lowering drugs like calcitonin and/or cinacalcet) and should be tailored to the term of pregnancy, severity of hypercalcemia, potential maternal-foetal risks involved, available surgical expertise and patient’s choices.
{"title":"Pregnancy with primary hyperparathyroidism","authors":"Rimesh Pal , Soham Mukherjee , Trupti N. Prasad , Sanjay Kumar Bhadada","doi":"10.1016/j.beem.2025.101983","DOIUrl":"10.1016/j.beem.2025.101983","url":null,"abstract":"<div><div>Primary hyperparathyroidism (PHPT) in pregnancy is rare. The physiological changes that occur in pregnancy often tend to mask the symptoms of PHPT, thereby making diagnosis challenging. If left undiagnosed, PHPT can lead to significant feto-maternal morbidity, which, primarily depends on maternal serum calcium levels. Maternal serum calcium > 11.4 mg/dl increases the risk of incident maternal and fetal complications. The diagnosis of PHPT in pregnancy is based on the documentation of parathyroid hormone-dependent hypercalcemia. Ultrasonography can be safely used to localize the culprit parathyroid lesions; other imaging modalities entailing the risk of exposure to ionizing radiation should preferably be avoided. Treatment involves parathyroid surgery (preferably performed in the second trimester) and/or medical management (hydration, use of calcium-lowering drugs like calcitonin and/or cinacalcet) and should be tailored to the term of pregnancy, severity of hypercalcemia, potential maternal-foetal risks involved, available surgical expertise and patient’s choices.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101983"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538099","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}
Pub Date : 2025-03-01DOI: 10.1016/j.beem.2025.101978
Liza Das , Pinaki Dutta
The co-occurrence of primary hyperparathyroidism (PHPT) and pituitary adenomas (PAs) is often indicative of underlying genetic syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1) and, less commonly, MEN4. Although both conditions can occur sporadically, their simultaneous presence warrants evaluation for genetic mutations, with MEN1 mutations being the most frequent cause. The management of concurrent PHPT and PAs, especially in MEN1 patients, presents unique challenges. Management complexities arise from the syndromic nature, involving both surgical and medical interventions tailored to each condition. PHPT often manifests earlier and more aggressively in MEN1, requiring surgical intervention. However, recurrence rates remain high due to multiglandular involvement. Pituitary adenomas in MEN1 are primarily prolactinomas, and treatment with dopamine agonists results in significant tumour control in most cases. Overall, PAs associated with MEN1 are generally responsive to medical therapy, but careful long-term monitoring is essential. The utility of genetic screening cannot be overstated, as it aids in early detection, risk stratification, and management of both the index case and affected family members by cascade screening. A multidisciplinary approach is crucial for optimizing outcomes, with ongoing surveillance to manage recurrence and associated complications. In summary, the co-occurrence of PHPT and PAs, particularly in the context of MEN1, necessitates an integrated management strategy. Genetic testing is key in confirming diagnosis and guiding treatment, while surgical and medical interventions should be tailored to the extent and nature of glandular involvement. Close monitoring for recurrence and proactive family screening are essential components of long-term care.
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