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Page 1
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), …
Calcium homeostasis and hyperparathyroidism: Nephrologic and endocrinologic points of view.
Lemoine S, Figueres L, Bacchetta J, Frey S, Dubourg L. Lemoine S, et al. Ann Endocrinol (Paris). 2022 Aug;83(4):237-243. doi: 10.1016/j.ando.2022.05.003. Epub 2022 May 19. Ann Endocrinol (Paris). 2022. PMID: 35598638 Review.
However, it can also be normocalcemic and calcium loading will be necessary to diagnosis it. The differential diagnosis of PHP is familial hypocalciuric hypercalcemia (FHH), a dominant autosomal disease implicating a calcium sensing receptor-inactivating muta …
However, it can also be normocalcemic and calcium loading will be necessary to diagnosis it. The differential diagnosis of PHP is familia …
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Howles SA, Gorvin CM, Cranston T, Rogers A, Gluck AK, Boon H, Gibson K, Rahman M, Root A, Nesbit MA, Hannan FM, Thakker RV. Howles SA, et al. J Bone Miner Res. 2023 Jun;38(6):907-917. doi: 10.1002/jbmr.4803. Epub 2023 Apr 18. J Bone Miner Res. 2023. PMID: 36970776 Free PMC article.
Familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2) are due to loss- and gain-of-function mutations, respectively, of the GNA11 gene that encodes the G protein subunit Galpha11, a signaling partner of the calci …
Familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2) are due to loss- a …
Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
Chinoy A, Nicholson J, Skae M, Hannan FM, Thakker RV, Mughal MZ, Padidela R. Chinoy A, et al. J Pediatr. 2023 Jun;257:113367. doi: 10.1016/j.jpeds.2023.02.013. Epub 2023 Mar 2. J Pediatr. 2023. PMID: 36868303
OBJECTIVES: To evaluate the prevalence and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric hypercalcemia type 3 (FHH3). STUDY DESIGN: A formal neurodevelopmental assessment was performed in children diagnosed with FHH3. …
OBJECTIVES: To evaluate the prevalence and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric …
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center. Dershem R, et al. Am J Hum Genet. 2020 Jun 4;106(6):734-747. doi: 10.1016/j.ajhg.2020.04.006. Epub 2020 May 7. Am J Hum Genet. 2020. PMID: 32386559 Free PMC article.
The calcium-sensing receptor (CaSR) regulates serum calcium concentrations. CASR loss- or gain-of-function mutations cause familial hypocalciuric hypercalcemia type 1 (FHH1) or autosomal-dominant hypocalcemia type 1 (ADH1), respectively, but the population pr …
The calcium-sensing receptor (CaSR) regulates serum calcium concentrations. CASR loss- or gain-of-function mutations cause familial …
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.
We aimed to determine the prevalence of germline variants in these patients, to clinically characterize the probands and their relatives, and to compare disease severity in carriers versus those with a negative genetic test. RESULTS: Germline variants were observed in 9/40 …
We aimed to determine the prevalence of germline variants in these patients, to clinically characterize the probands and their relatives, an …
Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia.
Asla Q, Sardà H, Seguí N, Martínez de Pinillos G, Mazarico-Altisent I, Capel I, Rives J, Suárez J, Ávila-Rubio V, Muñoz Torres M, Saigí I, Palacios N, Urgell E, Webb SM, Fernández M, Oriola J, Mora M, Tondo M, Aulinas A. Asla Q, et al. Endocrine. 2024 Mar;83(3):747-756. doi: 10.1007/s12020-023-03560-y. Epub 2023 Oct 30. Endocrine. 2024. PMID: 38214877 Free PMC article.
OBJECTIVE: Biochemical suspicion of familial hypocalciuric hypercalcemia (FHH) might provide with a negative (FHH-negative) or positive (FHH-positive) genetic result. ...The multivariate analysis revealed that family history and magnesium levels were independ …
OBJECTIVE: Biochemical suspicion of familial hypocalciuric hypercalcemia (FHH) might provide with a negative (FHH-negat …
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV. Nesbit MA, et al. N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253. N Engl J Med. 2013. PMID: 23802516 Free PMC article.
BACKGROUND: Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. ...METHODS: We performed GNA11 mutational analysis in a kindred with familial hypocalciuric hypercalcemia typ …
BACKGROUND: Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three variants: types 1, …
Molecular pathogenesis of primary hyperparathyroidism.
Arnold A, Shattuck TM, Mallya SM, Krebs LJ, Costa J, Gallagher J, Wild Y, Saucier K. Arnold A, et al. J Bone Miner Res. 2002 Nov;17 Suppl 2:N30-6. J Bone Miner Res. 2002. PMID: 12412775 Review.
However, the CaR, which when partially or markedly deficient because of germline mutation can cause familial hypocalciuric hypercalcemia or neonatal severe hyperparathyroidism, must still be considered as having a potentially important secondary role in the m …
However, the CaR, which when partially or markedly deficient because of germline mutation can cause familial hypocalciuric …
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study.
Isaksen T, Nielsen CS, Christensen SE, Nissen PH, Heickendorff L, Mosekilde L. Isaksen T, et al. Calcif Tissue Int. 2011 Oct;89(4):285-94. doi: 10.1007/s00223-011-9517-x. Epub 2011 Jul 22. Calcif Tissue Int. 2011. PMID: 21785908
Studies have shown that cancellous bone is relatively preserved in primary hyperparathyroidism (PHPT), whereas bone loss is seen in cortical bone. Familial hypocalciuric hypercalcemia (FHH) patients seem to preserve bone mineral in spite of hypercalcemia and …
Studies have shown that cancellous bone is relatively preserved in primary hyperparathyroidism (PHPT), whereas bone loss is seen in cortical …
55 results