본문 바로가기
  • 학술저널

표지

DBpia에서 서비스 중인 논문에 한하여 피인용 수가 반영됩니다. 내서재에 논문을 담은 이용자 수의 총합입니다.

발행기관의 요청으로 개인이 구매하실 수 없습니다.

초록·키워드 목차

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. #Pseudohypoparathyroidism #Parathyroid hormone #Unipatental disomy

등록된 정보가 없습니다.

저자의 논문

DBpia에서 서비스 중인 논문에 한하여 피인용 수가 반영됩니다.
Insert title here
논문의 정보가 복사되었습니다.
붙여넣기 하세요.