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European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.
Bollerslev J, Rejnmark L, Zahn A, Heck A, Appelman-Dijkstra NM, Cardoso L, Hannan FM, Cetani F, Sikjær T, Formenti AM, Björnsdottir S, Schalin-Jantti C, Belaya Z, Gibb FW, Lapauw B, Amrein K, Wicke C, Grasemann C, Krebs M, Ryhänen EM, Makay O, Minisola S, Gaujoux S, Bertocchio JP, Hassan-Smith ZK, Linglart A, Winter EM, Kollmann M, Zmierczak HG, Tsourdi E, Pilz S, Siggelkow H, Gittoes NJ, Marcocci C, Kamenicky P; 2021 PARAT Working Group. Bollerslev J, et al. Eur J Endocrinol. 2022 Jan 13;186(2):R33-R63. doi: 10.1530/EJE-21-1044. Print 2022 Feb 1. Eur J Endocrinol. 2022. PMID: 34863037 Free PMC article.
PHPT is a common endocrine disease. However, its differential diagnosing to familial hypocalciuric hypercalcemia (FHH), the definition and clinical course of normocalcemic PHPT, and the optimal management of its recurrence after surgery represent areas of unc …
PHPT is a common endocrine disease. However, its differential diagnosing to familial hypocalciuric hypercalcemia (FHH), …
Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.
Mazarico-Altisent I, Capel I, Baena N, Bella-Cueto MR, Barcons S, Guirao X, Pareja R, Muntean A, Arsentales V, Caixàs A, Rigla M. Mazarico-Altisent I, et al. Front Endocrinol (Lausanne). 2023 Sep 21;14:1244361. doi: 10.3389/fendo.2023.1244361. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37810884 Free PMC article.
RESULTS: Germline variants were observed in 9/40 patients (22.5%): 2 previously unknown pathogenic/likely pathogenic variants of CDKN1B (related to MEN4), 1 novel variant of uncertain significance of CDKN2C, 4 variants of CASR (3 pathogenic/likely pathogenic variants and 1 …
RESULTS: Germline variants were observed in 9/40 patients (22.5%): 2 previously unknown pathogenic/likely pathogenic variants of CDKN …
Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.
Khairi S, Osborne J, Jacobs MF, Clines GT, Miller BS, Hughes DT, Else T. Khairi S, et al. Horm Cancer. 2020 Oct;11(5-6):250-255. doi: 10.1007/s12672-020-00394-2. Epub 2020 Aug 5. Horm Cancer. 2020. PMID: 32761341 Free PMC article.
Primary hyperparathyroidism (pHPT) is associated with familial syndromes such as multiple endocrine neoplasia type 1 (MEN1), 2A (MEN2A), MEN-like syndromes (CDKN1B), and CDC73-related disorder (hyperparathyroidism - jaw tumor syndrome (HPJT)). Familial hypocalciuric …
Primary hyperparathyroidism (pHPT) is associated with familial syndromes such as multiple endocrine neoplasia type 1 (MEN1), 2A (MEN2A), MEN …
Efficacy of calcium excretion and calcium/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
Bhangu JS, Selberherr A, Brammen L, Scheuba C, Riss P. Bhangu JS, et al. Head Neck. 2019 May;41(5):1372-1378. doi: 10.1002/hed.25568. Epub 2018 Dec 15. Head Neck. 2019. PMID: 30554440
BACKGROUND: Twenty-four-hour renal calcium-excretion (CE) and calcium/creatinine-clearance-ratio (CCCR), respectively, are widely used to rule out familial hypocalciuric hypercalcemia (FHH) in patients with suspected primary hyperparathyroidism before surgery …
BACKGROUND: Twenty-four-hour renal calcium-excretion (CE) and calcium/creatinine-clearance-ratio (CCCR), respectively, are widely used to ru …
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B, Schnabel D, Dörr HG, Schöfl C. Mayr B, et al. Eur J Endocrinol. 2016 May;174(5):R189-208. doi: 10.1530/EJE-15-1028. Epub 2015 Dec 8. Eur J Endocrinol. 2016. PMID: 26646938 Review.
Therapeutic concepts for these rare diseases range from general therapies of hyper- and hypo-calcemic conditions to more pathophysiology oriented approaches such as parathyroid hormone (PTH) substitution and allosteric CASR modulators. ...We conducted a literature s …
Therapeutic concepts for these rare diseases range from general therapies of hyper- and hypo-calcemic conditions to more patho …
Is routine 24-hour urine calcium measurement useful during the evaluation of primary hyperparathyroidism?
Li SR, McCoy KL, Levitt HE, Kelley ML, Carty SE, Yip L. Li SR, et al. Surgery. 2022 Jan;171(1):17-22. doi: 10.1016/j.surg.2021.04.055. Epub 2021 Jul 27. Surgery. 2022. PMID: 34325903 Free PMC article.
BACKGROUND: Primary hyperparathyroidism and familial hypocalciuric hypercalcemia have similar biochemical profiles, and calcium-to-creatinine-clearance ratio helps distinguish the two. ...Primary hyperparathyroidism was diagnosed by 2016 American Association …
BACKGROUND: Primary hyperparathyroidism and familial hypocalciuric hypercalcemia have similar biochemical profiles, and …
Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management.
Marx SJ. Marx SJ. J Clin Endocrinol Metab. 2013 Aug;98(8):3139-48. doi: 10.1210/jc.2013-1511. Epub 2013 Jun 14. J Clin Endocrinol Metab. 2013. PMID: 23771922 Free PMC article. Review.
This applies to hormone-secreting tumors that begin as either polyclonal (such as in the parathyroids of familial hypocalciuric hypercalcemia) or monoclonal tumors (such as in the parathyroids of multiple endocrine neoplasia type 1 [MEN1]). ...Even the optimi …
This applies to hormone-secreting tumors that begin as either polyclonal (such as in the parathyroids of familial hypocalciuric …
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV. Hannan FM, et al. Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16. Hum Mol Genet. 2015. PMID: 26082470 Free PMC article.
The adaptor protein-2 sigma subunit (AP2sigma2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2sigma2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), …
The adaptor protein-2 sigma subunit (AP2sigma2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as …
Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
Stratta P, Merlotti G, Musetti C, Quaglia M, Pagani A, Izzo C, Radin E, Airoldi A, Baorda F, Palladino T, Leone MP, Guarnieri V. Stratta P, et al. Nephrol Dial Transplant. 2014 Oct;29(10):1902-9. doi: 10.1093/ndt/gfu065. Epub 2014 Aug 7. Nephrol Dial Transplant. 2014. PMID: 25104082
BACKGROUND: Inactivating mutations of the calcium-sensing receptor (CaSR), of the G-protein subunit alpha11 (GNA11) and of the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes are responsible for familial hypocalciuric hypercalcaemia (FHH). ...Within the la …
BACKGROUND: Inactivating mutations of the calcium-sensing receptor (CaSR), of the G-protein subunit alpha11 (GNA11) and of the adaptor-relat …