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Page 1
Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b.
Srivastava T, Krudys J, Mardis NJ, Sebestyen-VanSickle J, Alon US. Srivastava T, et al. Pediatr Nephrol. 2016 May;31(5):795-800. doi: 10.1007/s00467-015-3271-7. Epub 2015 Dec 1. Pediatr Nephrol. 2016. PMID: 26628282
BACKGROUND: In patients with pseudohypoparathyroidism type 1b (PHP1b) due to a tissue-specific imprinting defect in the G-protein alpha-subunit, skeletal disorders can arise from the bones being sensitive to parathyroid hormone (PTH) while the kidneys remain …
BACKGROUND: In patients with pseudohypoparathyroidism type 1b (PHP1b) due to a tissue-specific imprinting defect in the …
Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B.
Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS. Neary NM, et al. J Clin Endocrinol Metab. 2012 Sep;97(9):3025-30. doi: 10.1210/jc.2012-1655. Epub 2012 Jun 26. J Clin Endocrinol Metab. 2012. PMID: 22736772 Free PMC article.
CONTEXT: Pseudohypoparathyroidism type 1B (PHP1B) patients have PTH resistance at the renal proximal tubule and develop hypocalcemia and secondary hyperparathyroidism. ...PHP1B patients are at theoretical risk of developing tertiary hyperparathyroidism. SETTI …
CONTEXT: Pseudohypoparathyroidism type 1B (PHP1B) patients have PTH resistance at the renal proximal tubule and develop …
Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B.
Van der Biest AM, Jüppner H, Andreescu C, Bravenboer B. Van der Biest AM, et al. BMJ Case Rep. 2024 Feb 29;17(2):e258403. doi: 10.1136/bcr-2023-258403. BMJ Case Rep. 2024. PMID: 38423572
We describe a case in which epileptic seizures and abnormalities in dental development were the main clinical manifestation of PHP type 1B. This case demonstrates the importance of screening for hypocalcaemia in patients with de novo epileptic seizures. ...
We describe a case in which epileptic seizures and abnormalities in dental development were the main clinical manifestation of PHP ty …
Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology.
Goel NJ, Meyers LL, Frangos M. Goel NJ, et al. J Assist Reprod Genet. 2018 Jun;35(6):975-979. doi: 10.1007/s10815-018-1129-1. Epub 2018 Feb 7. J Assist Reprod Genet. 2018. PMID: 29417303 Free PMC article.
Pseudohypoparathyroidism type 1B (PHP1B) is characterized by renal tubular resistance to parathyroid hormone (PTH) leading to hyperphosphatemia, hypocalcemia, elevated PTH, and hyperparathyroid bone changes. ...We present a twin boy conceived by ART to parent …
Pseudohypoparathyroidism type 1B (PHP1B) is characterized by renal tubular resistance to parathyroid hormone (PTH) lead …
A review of known imprinting syndromes and their association with assisted reproduction technologies.
Amor DJ, Halliday J. Amor DJ, et al. Hum Reprod. 2008 Dec;23(12):2826-34. doi: 10.1093/humrep/den310. Epub 2008 Aug 14. Hum Reprod. 2008. PMID: 18703582 Review.
There is currently a lack of evidence linking ART with the remaining six imprinting syndromes: Prader-Willi syndrome, Russell-Silver syndrome, maternal and paternal uniparental disomy of chromosome 14, pseudohypoparathyroidism type 1b and transient neonatal d …
There is currently a lack of evidence linking ART with the remaining six imprinting syndromes: Prader-Willi syndrome, Russell-Silver syndrom …
Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.
Poradosu S, Bravenboer B, Takatani R, Jüppner H. Poradosu S, et al. BMJ Case Rep. 2016 May 11;2016:bcr2016214673. doi: 10.1136/bcr-2016-214673. BMJ Case Rep. 2016. PMID: 27170606 Free PMC article.
Pseudohypoparathyroidism type 1B (PHP1B) consists of a heterogeneous group of disorders characterised by resistance to parathyroid hormone (PTH). ...
Pseudohypoparathyroidism type 1B (PHP1B) consists of a heterogeneous group of disorders characterised by resistance to …
Multiple brown tumors: a bone complication due to long-term untreated pseudohypoparathyroidism.
Gonnelli S, Briot K, Cormier C, Teboul S, Roux C, Koumakis E. Gonnelli S, et al. Osteoporos Int. 2024 Jan;35(1):195-199. doi: 10.1007/s00198-023-06878-5. Epub 2023 Aug 29. Osteoporos Int. 2024. PMID: 37644196
Bone lytic lesions are a possible complication of pseudohypoparathyroidism type 1B, in undertreated adult patients. Whole body [18F] F-fluorocholine PET/CT is a useful imaging tool to assess brown tumor progression in this context. ...This case illustrates th …
Bone lytic lesions are a possible complication of pseudohypoparathyroidism type 1B, in undertreated adult patients. Who …
Screening for parathyroid hormone resistance in patients with nonphenotypically evident pseudohypoparathyroidism.
Todorova-Koteva K, Wood K, Imam S, Jaume JC. Todorova-Koteva K, et al. Endocr Pract. 2012 Nov-Dec;18(6):864-9. doi: 10.4158/EP12007.OR. Endocr Pract. 2012. PMID: 22784837
We have designed a new test to diagnose PTH resistance and confirmed its clinical utility in the diagnosis of pseudohypoparathyroidism. METHODS: Our test consists of a subcutaneous injection of commercially available recombinant PTH and concomitant measurement of cyclic ad …
We have designed a new test to diagnose PTH resistance and confirmed its clinical utility in the diagnosis of pseudohypoparathyroidis …
Fibroblast growth factor-23 is regulated by 1alpha,25-dihydroxyvitamin D.
Collins MT, Lindsay JR, Jain A, Kelly MH, Cutler CM, Weinstein LS, Liu J, Fedarko NS, Winer KK. Collins MT, et al. J Bone Miner Res. 2005 Nov;20(11):1944-50. doi: 10.1359/JBMR.050718. Epub 2005 Jul 18. J Bone Miner Res. 2005. PMID: 16234967 Free article.
She was treated with increasing doses of calcitriol followed by synthetic PTH(1-34). Patient 3 had pseudohypoparathyroidism type 1B and tertiary hyperparathyroidism. She underwent parathyroidectomy, which was followed by the development of hungry bone syndrom …
She was treated with increasing doses of calcitriol followed by synthetic PTH(1-34). Patient 3 had pseudohypoparathyroidism type …
Successful off-label use of cinacalcet HCl after standard therapy failure in a young man with pseudohypoparathyroidism Type 1b and vitamin D intoxication sequelae.
Koch M, Kohnle M. Koch M, et al. Clin Nephrol. 2008 Nov;70(5):439-44. doi: 10.5414/cnp70439. Clin Nephrol. 2008. PMID: 19000547
We describe the case of a young man with pseudohypoparathyroidism Type 1b--a rare genetic disorder characterized by end-organ resistance to parathormone (PTH)--and vitamin D intoxication sequelae due to inappropriate and poorly monitored calcitriol treatment …
We describe the case of a young man with pseudohypoparathyroidism Type 1b--a rare genetic disorder characterized by end …