Adult onset pseudohypoparathyroidism type-1b with normal phosphaturic response to exogenous parathyroid hormone

Pseudohypoparathyroidism type-1b is a hereditary disorder of clinical hypoparathyroidism without AHO phenotype, characterized by blunted nephrogenous cyclic-AMP (cAMP) response to exogenous parathyroid hormone (PTH). Here we report a young adult presenting with hypocalcemic tetany with raised PTH le...

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Detalles Bibliográficos
Autores principales: Kharb, Sandeep, Gundgurthi, Abhay, Dutta, M. K., Garg, M. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193786/
https://www.ncbi.nlm.nih.gov/pubmed/22029008
http://dx.doi.org/10.4103/2230-8210.85598
Descripción
Sumario:Pseudohypoparathyroidism type-1b is a hereditary disorder of clinical hypoparathyroidism without AHO phenotype, characterized by blunted nephrogenous cyclic-AMP (cAMP) response to exogenous parathyroid hormone (PTH). Here we report a young adult presenting with hypocalcemic tetany with raised PTH levels. His urinary cAMP response to exogenous PTH (recombinant 1-34) was blunted; however, phosphaturic response was normal.

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