| Two cases of pseudohypoparathyroidism in sisters |
|
Ihn Suk Lee, Yun Jeung Kim, Yun Sun Choi, Seul Young Kim, Yun Hyeong Lee, Young Suk Jo, Minho Shong |
|
경희대학교 의과대학 순환기내과학교실 |
| 증례 : 자매에서 발생한 가성부갑상선기능저하증 2예 |
|
이인석, 김윤정, 최윤선, 김설영, 이윤형, 조영석, 송민호 |
|
|
|
|
|
|
| Abstract |
|
Pseudohypoparathyroidism (PHP) is characterized by classic clinical and biochemical features of hypoparathyroidism, but an elevated serum level of parathyroid hormone (PTH) and characteristic physical features that are collectively termed ‘Albright's hereditary osteodystrophy’ (AHO). Depending on the difference in pathogenesis and phenotype, PHP can be classified as types Ia, Ib, Ic or II. Inheritances of PHP Ia and Ic are autosomal dominant, and the inheritance of the others is unknown. To our best knowledge, we report the first sisters with AHO in Korea. The older sister had hypocalcemia (6.1 mg/dL), hyperphosphatemia (6.7 mg/dL), and a high intact PTH level (605.7 pg/mL). Physical examination and radiological studies clearly showed the features of AHO. The younger sister had a normal serum calcium level (9.0 mg/dL) and normal phosphorus level (4.9 mg/dL). Interestingly, she also showed the features of AHO and had a high intact PTH level (359.0 pg/mL). After treatment with calcium citrate, cholecalciferol, and alfacalcidol, neurological symptoms and biochemical abnormalities were improved. |
| Key Words:
Hypothyroidism; Pseudohypoparathyroidism; Sibling |
|
PDF Links
Full text via DOI
Download Citation
