지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 18 - 22 (5page)
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초록· 키워드
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Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.
목차
등록된 정보가 없습니다.
참고문헌 (9)
참고문헌 신청
Mantovani G / 2006 / Mutations in the Gs alpha gene causing hormone resistance / Best Pract Res Clin Endocrinol Metab 20:501~513
Mariot V / 2008 / A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance / J Clin Endocrinol Metab 93:661~665
Jin HY / 2011 / Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism / Clin Endocrinol (Oxf) 75:207~213
Levine MA / 1983 / Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein / Am J Med 74:545~556
Lemos MC / 2015 / GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders / Hum Mutat 36:11~19
Mariot V / 2008 / A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance / J Clin Endocrinol Metab 93:661~665
Jin HY / 2011 / Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism / Clin Endocrinol (Oxf) 75:207~213
Levine MA / 1983 / Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein / Am J Med 74:545~556
Lemos MC / 2015 / GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders / Hum Mutat 36:11~19
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