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
- 527 - 532 (6page)
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초록· 키워드
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Purpose: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantiallybetween ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patientswith an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD).
Materials and Methods: This study included 27 patients with sporadic IGHD and CPHD. A mutation analysis of the POU1F1, PROP1, LHX3, LHX4, and HESX1 genes was performed using genomic DNA from peripheral blood leukocytes.
Results: IGHD and CPHD were observed in 4 and 23 patients, respectively. Mean age at diagnosis was 8.28±7.25 years for IGHD and 13.48±10.46 years for CPHD (p=0.37). Serum insulin-like growth factor-1 and peak growth hormone (GH) levels following GH stimulationtests were significantly lower in patients with CPHD than in those with IGHD (p<0.05). Sellar MRI findings revealed structural abnormalitiesin 3 patients with IGHD (75%) and 21 patients with CPHD (91.3%) (p=0.62). A mutation analysis identified homozygous p.R109Q mutations in HESX1 in a patient with CPHD. Patients with CPHD had more severe GHD than those with IGHD.
Conclusion: The frequency of defects in the genes encoding pituitary transcription factors was extremely low in Korean patients with congenital hypopituitarism. Environmental factors and the impact of other causative genes may contribute to this clinical phenotype.
목차
등록된 정보가 없습니다.
참고문헌 (25)
참고문헌 신청
Bas¸ F / 2015 / Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency:a multicenter study / Endocrine 49:479~491
Alatzoglou KS / 2009 / Genetic forms of hypopituitarism and their manifestation in the neonatal period / Early Hum Dev 85 : 705 ~ 712
Argyropoulou M / 1992 / Magnetic resonance imaging in the diagnosis of growth hormone deficiency / J Pediatr 120 : 886 ~ 891
Bancalari RE / 2012 / Pituitary gland development: an update / Endocr Dev 23 : 1 ~ 15
Cohen LE / 2002 / Molecular basis of combined pituitary hormone deficiencies / Endocr Rev 23 : 431 ~ 442
Alatzoglou KS / 2009 / Genetic forms of hypopituitarism and their manifestation in the neonatal period / Early Hum Dev 85 : 705 ~ 712
Argyropoulou M / 1992 / Magnetic resonance imaging in the diagnosis of growth hormone deficiency / J Pediatr 120 : 886 ~ 891
Bancalari RE / 2012 / Pituitary gland development: an update / Endocr Dev 23 : 1 ~ 15
Cohen LE / 2002 / Molecular basis of combined pituitary hormone deficiencies / Endocr Rev 23 : 431 ~ 442
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