scholarly journals Parathyroid hormone resistance from severe hypomagnesaemia caused by cisplatin

2020 ◽  
Vol 71 (6) ◽  
pp. 577-578 ◽  
Author(s):  
Adam R. Puchalski ◽  
Mary Beth Hodge
Keyword(s):  
Parathyroid Hormone ◽  
Hormone Resistance

Abstract #615: Hypocalcemia Secondary to Parathyroid Hormone Resistance

2016 ◽  
Vol 22 ◽  
pp. 135
Author(s):  
Mitali Talsania ◽  
Ammara Aziz ◽  
Lauren LaBryer ◽  
Jonea Lim
Keyword(s):  
Parathyroid Hormone ◽  
Hormone Resistance

Acrophobia In A Young Girl With Parathyroid Hormone Resistance (pseudohypoparathyroidism)

2018 ◽  
Vol 28 (09) ◽  
pp. S166-S168
Author(s):  
Mehwish Gilani ◽  
Asif Ali Memon ◽  
Naveed Asif ◽  
Nida Basharat
Keyword(s):  
Parathyroid Hormone ◽  
Young Girl ◽  
Hormone Resistance

Mechanisms of parathyroid hormone resistance in pseudohypoparathyroidism

1988 ◽  
Vol 74 (6) ◽  
pp. 561-566 ◽  
Author(s):  
D. J. Hosking ◽  
D. Kerr
Keyword(s):  
Parathyroid Hormone ◽  
Hormone Resistance

scholarly journals A Maternal Epimutation of GNAS Leads to Albright Osteodystrophy and Parathyroid Hormone Resistance

2008 ◽  
Vol 93 (3) ◽  
pp. 661-665 ◽  
Author(s):  
Virginie Mariot ◽  
Stéphanie Maupetit-Méhouas ◽  
Christiane Sinding ◽  
Marie-Laure Kottler ◽  
Agnès Linglart
Keyword(s):  
Parathyroid Hormone ◽  
Hormone Resistance

scholarly journals OR07-01 Identification of the First Case of Acquired Autoimmune Parathyroid Hormone (PTH) Resistance Due to PTH1 Receptor (PTH1R) Autoantibodies

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Adel Mandl ◽  
Peter D Burbelo ◽  
Giovanni DiPasquale ◽  
James Welch ◽  
William F Simonds ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
Autoimmune Diseases ◽  
Elevated Serum ◽  
American Woman ◽  
Dependent Manner ◽  
Hormone Resistance ◽  
First Case ◽  
Symptomatic Hypocalcemia ◽  
Pth Resistance ◽  
Autoimmune Etiology

Abstract Background: Here we describe a patient who presented with symptomatic hypocalcemia and a biochemical picture suggestive of PTH resistance. PTH resistance is a hallmark of pseudohypoparathyroidism, a heterogeneous group of rare disorders caused by genetic or epigenetic alterations of PTH/PTHrP signaling. However, PTH receptor-related autoimmune etiology has not been identified as the underlying mechanism for PTH resistance. Here we describe the first case of acquired autoimmune PTH resistance that is secondary to PTH1R autoantibodies. Clinical Case: A 60-year-old African-American woman, who previously had normal calcium homeostasis, presented with acute, symptomatic hypocalcemia, hyperphosphatemia and markedly elevated serum PTH, consistent with parathyroid hormone resistance. She did not have other hormone resistance or a clinical phenotype suggestive of pseudohypoparathyroidism. Whole-exome sequencing and GNAS methylation analysis revealed no genetic or epigenetic defects of the PTH/PTHrP signaling pathway. Treatment with Calcitriol and Calcium supplements was initiated with good clinical response. Within 10 years of follow-up, the patient developed autoimmune hypothyroidism, alopecia and an unusual form of membranous glomerulonephritis, raising the suspicion for an autoimmune etiology for PTH resistance. Luciferase immunoprecipitation system assay identified antibodies against PTH1R with mapping to the N-terminal extracellular ligand-binding domain (amino acids 1- 178). Using an in vitro biological assay in GP-2.3 cells, we found that the antibodies derived from the patient’s serum blocked PTH downstream signaling via Gsalpha/cAMP/protein kinase A pathway in a concentration-dependent manner. The patient’s autoantibody profile led to the diagnosis of additional autoimmune diseases, including atrophic gastritis and Sjogren syndrome. Lymphocyte immunophenotyping using flow cytometry revealed an overall normal B and T cell profile, but with decreased frequencies and numbers of switched and non-switched memory B cell subsets and an increased frequency and number of the CD8+ naïve cell population. Genes associated with autoimmune inflammatory disorders were sequenced but no pathologic changes were detected. Conclusions: Identification of the first case of autoimmune PTH resistance secondary to PTH1R autoantibodies extends the etiologic spectrum of hypoparathyroidism and should be considered when a patient presents with findings consistent with pseudohypoparathyroidism, especially in the presence of additional autoimmune diseases.

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