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KMID : 0882420080740000209
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Korean Journal of Medicine
2008 Volume.74 No. 0 p.209 ~ p.216
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Two cases of pseudohypoparathyroidism in sisters
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Lee Ihn-Suk
Kim Yun-Jeung
Choi Yun-Sun
Kim Seul-Young
Lee Yun-Hyeong
Jo Young-Suk
Shong Min-Ho
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Abstract
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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.(Korean J Med 74:S209-S216, 2008)
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KEYWORD
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Hypothyroidism, Pseudohypoparathyroidism, Sibling
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