Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a
Pseudohypoparathyroidism type 1a (PHP1a) is a genetic disorder caused by heterozygous loss-of-function mutations on the maternal allele of the GNAS gene. Patients with PHP1a predominantly exhibit parathyroid hormone (PTH) resistance and physical features of Albright's hereditary osteodystrophy....
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-06-01
|
| Series: | Bone Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S235218722200403X |
| _version_ | 1818253265301667840 |
|---|---|
| author | Masatsune Itoh Michiko Okajima Yuko Kittaka Akihiro Yachie Taizo Wada Yutaka Saikawa |
| author_facet | Masatsune Itoh Michiko Okajima Yuko Kittaka Akihiro Yachie Taizo Wada Yutaka Saikawa |
| author_sort | Masatsune Itoh |
| collection | DOAJ |
| description | Pseudohypoparathyroidism type 1a (PHP1a) is a genetic disorder caused by heterozygous loss-of-function mutations on the maternal allele of the GNAS gene. Patients with PHP1a predominantly exhibit parathyroid hormone (PTH) resistance and physical features of Albright's hereditary osteodystrophy. We report two unrelated cases with PHP1a who developed tertiary hyperparathyroidism (HPT). Molecular analyses of the GNAS gene identified a previously known heterozygous 4-bp deletion (c. 565_568delGACT) in exon 7 in case 1 and a novel heterozygous missense mutation (p.Lys233Glu) in exon 9 in case 2. Both patients developed tertiary HPT associated with hyperfunctioning parathyroid glands during long-term treatment of hypocalcemia. Case 1 had severe osteoporosis and underwent parathyroidectomy. Case 2 was asymptomatic with no evidence of bone diseases associated with tertiary HPT. PHP1a patients are at risk of developing tertiary HPT and should be treated with sufficient doses of calcium and vitamin D to achieve serum PTH levels within the mid - normal to double the upper limit of the normal range, regardless of serum calcium levels. |
| first_indexed | 2024-12-12T16:37:19Z |
| format | Article |
| id | doaj.art-2e60615b3bc44c17a3cab46e56abf080 |
| institution | Directory Open Access Journal |
| issn | 2352-1872 |
| language | English |
| last_indexed | 2024-12-12T16:37:19Z |
| publishDate | 2022-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Bone Reports |
| spelling | doaj.art-2e60615b3bc44c17a3cab46e56abf0802022-12-22T00:18:38ZengElsevierBone Reports2352-18722022-06-0116101569Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1aMasatsune Itoh0Michiko Okajima1Yuko Kittaka2Akihiro Yachie3Taizo Wada4Yutaka Saikawa5Department of Pediatrics, Kanazawa Medical University, Kanazawa, Japan; Corresponding author at: Department of Pediatrics, Kanazawa Medical University, Daigaku 1-1, Uchinada-machi, Kahoku-gun, Ishikawa, Japan.Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Science, Kanazawa University, Kanazawa, JapanDepartment of Pediatrics, JA Onomichi General Hospital, Onomichi, JapanDepartment of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Science, Kanazawa University, Kanazawa, JapanDepartment of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Science, Kanazawa University, Kanazawa, JapanDepartment of Pediatrics, Kanazawa Medical University, Kanazawa, JapanPseudohypoparathyroidism type 1a (PHP1a) is a genetic disorder caused by heterozygous loss-of-function mutations on the maternal allele of the GNAS gene. Patients with PHP1a predominantly exhibit parathyroid hormone (PTH) resistance and physical features of Albright's hereditary osteodystrophy. We report two unrelated cases with PHP1a who developed tertiary hyperparathyroidism (HPT). Molecular analyses of the GNAS gene identified a previously known heterozygous 4-bp deletion (c. 565_568delGACT) in exon 7 in case 1 and a novel heterozygous missense mutation (p.Lys233Glu) in exon 9 in case 2. Both patients developed tertiary HPT associated with hyperfunctioning parathyroid glands during long-term treatment of hypocalcemia. Case 1 had severe osteoporosis and underwent parathyroidectomy. Case 2 was asymptomatic with no evidence of bone diseases associated with tertiary HPT. PHP1a patients are at risk of developing tertiary HPT and should be treated with sufficient doses of calcium and vitamin D to achieve serum PTH levels within the mid - normal to double the upper limit of the normal range, regardless of serum calcium levels.http://www.sciencedirect.com/science/article/pii/S235218722200403XPHP1aPseudohypoparathyroidism 1aTertiary hyperparathyroidism |
| spellingShingle | Masatsune Itoh Michiko Okajima Yuko Kittaka Akihiro Yachie Taizo Wada Yutaka Saikawa Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a Bone Reports PHP1a Pseudohypoparathyroidism 1a Tertiary hyperparathyroidism |
| title | Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a |
| title_full | Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a |
| title_fullStr | Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a |
| title_full_unstemmed | Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a |
| title_short | Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a |
| title_sort | tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a |
| topic | PHP1a Pseudohypoparathyroidism 1a Tertiary hyperparathyroidism |
| url | http://www.sciencedirect.com/science/article/pii/S235218722200403X |
| work_keys_str_mv | AT masatsuneitoh tertiaryhyperparathyroidisminpatientswithpseudohypoparathyroidismtype1a AT michikookajima tertiaryhyperparathyroidisminpatientswithpseudohypoparathyroidismtype1a AT yukokittaka tertiaryhyperparathyroidisminpatientswithpseudohypoparathyroidismtype1a AT akihiroyachie tertiaryhyperparathyroidisminpatientswithpseudohypoparathyroidismtype1a AT taizowada tertiaryhyperparathyroidisminpatientswithpseudohypoparathyroidismtype1a AT yutakasaikawa tertiaryhyperparathyroidisminpatientswithpseudohypoparathyroidismtype1a |