A novel mutation in a case of pseudohypoparathyroidism type Ia
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is d...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2016-02-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/1078 |
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| author | Birgül Kırel Meliha Demiral Özkan Bozdağ Kadri Karaer |
| author_facet | Birgül Kırel Meliha Demiral Özkan Bozdağ Kadri Karaer |
| author_sort | Birgül Kırel |
| collection | DOAJ |
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Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His calcium level remained within normal levels after vitamin D treatment, but, elevated PTH and ALP levels and normal-high phosphate levels persisted during his follow-up by age of 2.5 years. He was admitted with hypocalcemic convulsions as well as hyperphosphatemia and elevated PTH levels suggested PTH resistance at 2.5 years of age. He and his mother were obese and had round faces, frontal bossing, small noses, flat nasal bridges, brachydactyly. His mother showed no hormonal resistance. These findings indicated that our patient had PHP type Ia and his mother had pseudoPHP. The same novel heterozygous mutation in the GNAS gene (IVS4+5G > C) was identified in both of patients.
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| format | Article |
| id | doaj-art-1dc5b35b7a1547ce8263dab4fd3a2c08 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2016-02-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-1dc5b35b7a1547ce8263dab4fd3a2c082025-08-20T03:01:14ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212016-02-0158110.24953/turkjped.2016.01.016A novel mutation in a case of pseudohypoparathyroidism type IaBirgül Kırel0Meliha Demiral1Özkan Bozdağ2Kadri Karaer3Division of Pediatric Endocrinology, Osmangazi University Faculty of Medicine, Eskişehir, Turkey.Division of Pediatric Endocrinology, Osmangazi University Faculty of Medicine, Eskişehir, Turkey.Department of Pediatrics, Osmangazi University Faculty of Medicine, Eskişehir, Turkey.Department of Clinical Genetics, Dr. Ersin Arslan Hospital, Gaziantep, Turkey. Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His calcium level remained within normal levels after vitamin D treatment, but, elevated PTH and ALP levels and normal-high phosphate levels persisted during his follow-up by age of 2.5 years. He was admitted with hypocalcemic convulsions as well as hyperphosphatemia and elevated PTH levels suggested PTH resistance at 2.5 years of age. He and his mother were obese and had round faces, frontal bossing, small noses, flat nasal bridges, brachydactyly. His mother showed no hormonal resistance. These findings indicated that our patient had PHP type Ia and his mother had pseudoPHP. The same novel heterozygous mutation in the GNAS gene (IVS4+5G > C) was identified in both of patients. https://turkjpediatr.org/article/view/1078Albright’s hereditary osteodystrophyGNAS genechildrennovel mutationpseudohypoparathyroidism |
| spellingShingle | Birgül Kırel Meliha Demiral Özkan Bozdağ Kadri Karaer A novel mutation in a case of pseudohypoparathyroidism type Ia The Turkish Journal of Pediatrics Albright’s hereditary osteodystrophy GNAS gene children novel mutation pseudohypoparathyroidism |
| title | A novel mutation in a case of pseudohypoparathyroidism type Ia |
| title_full | A novel mutation in a case of pseudohypoparathyroidism type Ia |
| title_fullStr | A novel mutation in a case of pseudohypoparathyroidism type Ia |
| title_full_unstemmed | A novel mutation in a case of pseudohypoparathyroidism type Ia |
| title_short | A novel mutation in a case of pseudohypoparathyroidism type Ia |
| title_sort | novel mutation in a case of pseudohypoparathyroidism type ia |
| topic | Albright’s hereditary osteodystrophy GNAS gene children novel mutation pseudohypoparathyroidism |
| url | https://turkjpediatr.org/article/view/1078 |
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