Pseudohypoparathyroidism is a group of rare, related and highly heterogeneous disorders characterized by target organ resistance to the action of parathyroid hormone. Pseudohypoparathyroidism and related disorders are caused by genetic and/or epigenetic changes resulting in downregulation of a cyclic adenosine mono phosphate generator primarily linked to the GNAS gene, patients who have experienced hormonal parathyroid (hypocalcemia and hyperphosphatemia resistant to parathyroid hormone with characteristic skeletal and developmental changes. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, hereditary osteodystrophy; Albright, pseudohypoparathyroidism, McCune-Albright syndrome, progressive bone heteroplasia, polyostotic fibrous dysplasia of bone, and certain pituitary tumors Here we report a series of 3 cases carrying pseudohypopathyroidism, their sociodemographic, clinical and paraclinical aspects as well as therapeutic.
| Published in | International Journal of Medical Case Reports (Volume 2, Issue 4) |
| DOI | 10.11648/j.ijmcr.20230204.12 |
| Page(s) | 28-35 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Pseudohypoparathyroidism, PTH Resistance, Subcutaneous Ossifications, Brachydactyly
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APA Style
Mpung Mansoj, H., Dieynabou Sow, A., Ndiaye, M. (2023). Senegalese Experience of Pseudo Hypoparathyroidism About Three Cases at the Department of Neurology in Fann Teaching Hospital. International Journal of Medical Case Reports, 2(4), 28-35. https://doi.org/10.11648/j.ijmcr.20230204.12
ACS Style
Mpung Mansoj, H.; Dieynabou Sow, A.; Ndiaye, M. Senegalese Experience of Pseudo Hypoparathyroidism About Three Cases at the Department of Neurology in Fann Teaching Hospital. Int. J. Med. Case Rep. 2023, 2(4), 28-35. doi: 10.11648/j.ijmcr.20230204.12
AMA Style
Mpung Mansoj H, Dieynabou Sow A, Ndiaye M. Senegalese Experience of Pseudo Hypoparathyroidism About Three Cases at the Department of Neurology in Fann Teaching Hospital. Int J Med Case Rep. 2023;2(4):28-35. doi: 10.11648/j.ijmcr.20230204.12
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Download@article{10.11648/j.ijmcr.20230204.12,
author = {Halladain Mpung Mansoj and Adjaratou Dieynabou Sow and Moustapha Ndiaye},
title = {Senegalese Experience of Pseudo Hypoparathyroidism About Three Cases at the Department of Neurology in Fann Teaching Hospital},
journal = {International Journal of Medical Case Reports},
volume = {2},
number = {4},
pages = {28-35},
doi = {10.11648/j.ijmcr.20230204.12},
url = {https://doi.org/10.11648/j.ijmcr.20230204.12},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijmcr.20230204.12},
abstract = {Pseudohypoparathyroidism is a group of rare, related and highly heterogeneous disorders characterized by target organ resistance to the action of parathyroid hormone. Pseudohypoparathyroidism and related disorders are caused by genetic and/or epigenetic changes resulting in downregulation of a cyclic adenosine mono phosphate generator primarily linked to the GNAS gene, patients who have experienced hormonal parathyroid (hypocalcemia and hyperphosphatemia resistant to parathyroid hormone with characteristic skeletal and developmental changes. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, hereditary osteodystrophy; Albright, pseudohypoparathyroidism, McCune-Albright syndrome, progressive bone heteroplasia, polyostotic fibrous dysplasia of bone, and certain pituitary tumors Here we report a series of 3 cases carrying pseudohypopathyroidism, their sociodemographic, clinical and paraclinical aspects as well as therapeutic.
},
year = {2023}
}
TY - JOUR T1 - Senegalese Experience of Pseudo Hypoparathyroidism About Three Cases at the Department of Neurology in Fann Teaching Hospital AU - Halladain Mpung Mansoj AU - Adjaratou Dieynabou Sow AU - Moustapha Ndiaye Y1 - 2023/12/18 PY - 2023 N1 - https://doi.org/10.11648/j.ijmcr.20230204.12 DO - 10.11648/j.ijmcr.20230204.12 T2 - International Journal of Medical Case Reports JF - International Journal of Medical Case Reports JO - International Journal of Medical Case Reports SP - 28 EP - 35 PB - Science Publishing Group SN - 2994-7049 UR - https://doi.org/10.11648/j.ijmcr.20230204.12 AB - Pseudohypoparathyroidism is a group of rare, related and highly heterogeneous disorders characterized by target organ resistance to the action of parathyroid hormone. Pseudohypoparathyroidism and related disorders are caused by genetic and/or epigenetic changes resulting in downregulation of a cyclic adenosine mono phosphate generator primarily linked to the GNAS gene, patients who have experienced hormonal parathyroid (hypocalcemia and hyperphosphatemia resistant to parathyroid hormone with characteristic skeletal and developmental changes. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, hereditary osteodystrophy; Albright, pseudohypoparathyroidism, McCune-Albright syndrome, progressive bone heteroplasia, polyostotic fibrous dysplasia of bone, and certain pituitary tumors Here we report a series of 3 cases carrying pseudohypopathyroidism, their sociodemographic, clinical and paraclinical aspects as well as therapeutic. VL - 2 IS - 4 ER -
Department of Neurology, Cheikh Anta Diop University, Fann Teaching Hospital, Dakar, Senegal
