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
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제23권 제3호
- 발행연도
- 2018.1
- 수록면
- 158 - 161 (4page)
이용수
초록· 키워드
오류제보하기
We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not necessarily requiring treatment. A 17-year-old male presented to our clinic on glucocorticoid and mineralocorticoid treatment for classic CAH. He was diagnosed at 4 years of age based on mild-moderate elevations of 17-hydroxyprogesterone (17-OHP) and adrenocorticotropic hormone (ACTH), but without evidence of precocious adrenarche/puberty. Due to his diagnosis, his clinically asymptomatic 3-year-old sister was tested and also found to have elevated ACTH and 17-OHP levels and was started on glucocorticoids for classic CAH. Family history revealed a healthy sibling who had no biochemical evidence of CAH and consanguineous healthy parents. We questioned the diagnosis of classic CAH and performed an ACTH1-24 stimulation test, which showed a level of 17-OHP in the borderline range between classic and nonclassic CAH. Molecular testing, using sequencing and multiplex ligation-dependent probe amplification analysis of CYP21A2, revealed that both affected siblings were compound heterozygotes for a whole-gene deletion and a, likely pathogenic (nonclassical), sequence variant, p.R124C. The asymptomatic father had the same genotype, while the mother showed one deleted copy and 2 active copies, making her an asymptomatic carrier. Our report demonstrates the importance of molecular testing in atypical cases of CAH, as well as the importance of both sequencing and deletion analysis. The results of molecular testing should be interpreted in clinical context, and treatment should be prescribed according to guidelines when available.
목차
등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Mendes C / 2015 / Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation / Acta Med Port 28:56~62
Speiser PW / 2010 / Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline / J Clin Endocrinol Metab 95:4133~4160
Falhammar H / 2015 / Biochemical and genetic diagnosis of 21-hydroxylase deficiency / Endocrine 50:306~314
Nimkar n S / 2016 / 21-Hydroxylase-deficient congenital adrenal hyperplasia [Internet]
Krone N / 2013 / Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort / J Clin Endocrinol Metab 98:E346~E354
Speiser PW / 2010 / Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline / J Clin Endocrinol Metab 95:4133~4160
Falhammar H / 2015 / Biochemical and genetic diagnosis of 21-hydroxylase deficiency / Endocrine 50:306~314
Nimkar n S / 2016 / 21-Hydroxylase-deficient congenital adrenal hyperplasia [Internet]
Krone N / 2013 / Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort / J Clin Endocrinol Metab 98:E346~E354
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study
Endocrinology and Metabolism
2022 .02
-
Clinical and molecular review of atypical congenital adrenal hyperplasia
Annals of Pediatirc Endocrinology & Metabolism
2015 .01
-
Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor
Endocrinology and Metabolism
2015 .01
-
Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome
Annals of Pediatirc Endocrinology & Metabolism
2023 .06
-
Successful pregnancy and delivery of a patient with congenital adrenal hyperplasia
Obstetrics & Gynecology Science
2016 .01
-
Long-Term Outcomes of Congenital Adrenal Hyperplasia
Endocrinology and Metabolism
2022 .08
-
CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay
Annals of Laboratory Medicine
2015 .01
-
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Annals of Pediatirc Endocrinology & Metabolism
2016 .01
-
Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia
Annals of Pediatirc Endocrinology & Metabolism
2015 .01
-
Dried Blood Spot Testing for Seven Steroids Using Liquid Chromatography-Tandem Mass Spectrometry With Reference Interval Determination in the Korean Population
Annals of Laboratory Medicine
2015 .01
-
Dried Blood Spot Multiplexed Steroid Profiling Using Liquid Chromatography Tandem Mass Spectrometry in Korean Neonates
Annals of Laboratory Medicine
2019 .01
-
Fertility-preserving treatment in complex atypical hyperplasia and early endometrial cancer in young women with oral progestin: Is it effective?
Obstetrics & Gynecology Science
2016 .01
-
Analysis of the Influencing Factors of 17-Hydroxypro�gesterone Level and the Correlation between 17-Hydroxy�progesterone Level and the Clinical Parameters Related to Adrenal Cortical Function in Very-Low-Birth-Weight Infants
Neonatal medicine
2019 .01
-
Adrenal Morphology as an Indicator of Long-Term Disease Control in Adults with Classic 21-Hydroxylase Deficiency
Endocrinology and Metabolism
2022 .02
-
Second-Line Tests in the Diagnosis of Adrenocorticotropic Hormone-Dependent Hypercortisolism
Annals of Laboratory Medicine
2021 .11
-
Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation
Annals of Pediatirc Endocrinology & Metabolism
2021 .01
-
Novel function of adrenocorticotropic hormone in the stimulation of vascular endothelial growth factor release in healthy children and adolescents: a proof-of-concept study
Annals of Pediatirc Endocrinology & Metabolism
2021 .01
-
선천성 부신 과형성증(21-hydroxylase 결핍)의 신생아 선별 검사 후 진단 알고리즘
대한유전성대사질환학회지
2016 .01
-
Prognostic Implication of Adrenocortical Response during the Course of Critical Illness
Acute and Critical Care
2019 .01
-
Lipoid Congenital Adrenal Hyperplasia Diagnosed in an Infant with Hyperpigmentation Only by Targeted Exome Sequencing
Journal of mucopolysaccharidosis and rare disease
2017 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0