계명대학교 의학도서관 Repository

Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant

Metadata Downloads
Author(s)
Su Kyeong HwangYe Jee ShimSeung Hwan OhKyung Mi Jang
Keimyung Author(s)
Shim, Ye Jee
Department
Dept. of Pediatrics (소아청소년학)
Journal Title
Children (Basel)
Issued Date
2022
Volume
9
Issue
5
Keyword
pseudohypoparathyroidismGNASalbright’s hereditary osteodystrophyosteoma cutishypothyroidism
Abstract
Pseudohypoparathyroidism (PHP) is a rare, heterogeneous disorder characterized by end-organ resistance to parathyroid hormone (PTH). PTH resistance causes elevated PTH levels, hypocalcemia, and hyperphosphatemia. Since hypocalcemia causes life-threatening events, early diagnosis is crucial. However, the diagnosis of PHP is elusive during infancy because PHP is usually diagnosed with hypocalcemia-induced symptoms, which develop later in childhood when calcium requirements increase. A 1-month-old girl was referred to our clinic for elevated thyroid-stimulating hormone (TSH) levels on newborn screening. When measured 1 month after levothyroxine treatment, her TSH level normalized. At 4-months-old, multiple hard nodules were noted on her trunk. A punch skin biopsy revealed osteoma cutis associated with Albright’s hereditary osteodystrophy, a major characteristic of PHP. We performed targeted sanger sequencing of the GNAS gene and detected a heterozygous variant c.150dupA (p.Ser51Ilefs*3) in both the proband and her mother, causing frameshift and premature termination mutations. The patient was diagnosed with PHP Ia when she had normal calcium, phosphorous, and PTH levels. We report the early diagnosis of PHP Ia without hypocalcemia. It emphasizes the importance of meticulous physical examination in patients with congenital hypothyroidism.
Keimyung Author(s)(Kor)
심예지
Publisher
School of Medicine (의과대학)
Citation
Su Kyeong Hwang et al. (2022). Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant. Children (Basel), 9(5), 723. doi: 10.3390/children9050723
Type
Article
ISSN
2227-9067
Source
https://www.mdpi.com/2227-9067/9/5/723
DOI
10.3390/children9050723
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/44301
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
공개 및 라이선스
  • 공개 구분공개
파일 목록

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.