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Analysis of Major Factors Affecting False Positive Results in Neonatal Screening Test within 3 Days after Birth

Kim TK, Lee SH, Yu ST, Oh YK

OBJECTIVE: We examined the factors affecting the false positive results in the accidental neonatal screening test (NST) within 3 days after birth and tried to find out the most relevant...
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Dried Blood Spot Multiplexed Steroid Profiling Using Liquid Chromatography Tandem Mass Spectrometry in Korean Neonates

Choi R, Park HD, Oh HJ, Lee K, Song J, Lee SY

BACKGROUND: Screening for congenital adrenal hyperplasia (CAH) using immunoassays for 17α-hydroxyprogesterone generates many false-positive results. We developed and validated a liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay for simultaneous quantification of...
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Analysis of the Influencing Factors of 17-Hydroxyprogesterone Level and the Correlation between 17-Hydroxyprogesterone Level and the Clinical Parameters Related to Adrenal Cortical Function in Very-Low-Birth-Weight Infants

Kum CD, Lee MJ, Park MS, Sohn YB, Noh K, Lee JH

PURPOSE: 17-Hydroxyprogesterone (17-OHP) screening results are difficult to interpret owing to the many influencing factors, and confirming the test results takes time. In this study, we examined the factors that...
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Transient Pseudohypoaldosteronism in a 5-Month-old Infant Manifested as a Failure to Thrive

Lee JW, Cho SJ, Kim HS

Pseudohypoaldosteronism (PHA) in infants is manifested by presence of hyperkalemia, hyponatremia, and metabolic acidosis. At initial stages, PAH is generally suspected as congenital adrenal hyperplasia. Transient PHA has been reported...
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Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

Wang M, Wang H, Zhao H, Li L, Liu M, Liu F, Meng F, Fan C

BACKGROUND: 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia,...
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Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency

Mo EY, Lee JY, Kim SY, Kim MJ, Kim ES, Lee S, Han JH, Moon SD

BACKGROUND: We previously reported a patient with congenital adrenal hyperplasia (CAH) with compound heterozygous mutations in the cytochrome P450 17A1 (CYP17A1) gene. One allele had a p.His373Leu and the other...
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Report on the External Quality Assessment Scheme for Metabolite Testing in Korea (2016–2017)

Lee SY

External quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as extended newborn screening...
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Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita

Serbis A, Tsinopoulou VR, Mouzaki K, Kotanidou , Giza S, Galli-Tsinopoulou A

X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is...
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Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia

Nasir H, Ali SI, Haque N, Grebe SK, Kirmani S

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...
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A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

Lee J, Kim WD, Kim HS, Lee EK, Park HD

Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown...
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Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

Choi JH, Yoo HW

Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most...
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Etiology and therapeutic outcomes of children with gonadotropin-independent precocious puberty

Kang E, Cho JH, Choi JH, Yoo HW

PURPOSE: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP). METHODS: The study included 16 patients (14 female and 2 male...
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Annual Report on the External Quality Assessment Scheme for Biochemical Genetics in Korea (2015)

Lee SY, Ji OJ, Kwon GC, Kim JW, Park HD, Song J, Lee SG, Lee YW, Lee EH, Chun S, Choi TY, Biochemical Genetics Subcommittee, Korean Association of External Quality Assessment Service

Two external quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as newborn screening...
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Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

Woo H, Ko JM, Shin CH, Yang SW

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to...
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Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Choi JH, Kim GH, Yoo HW

The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone...
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17α-hydroxylase Deficiency Mimicking Hyperaldosteronism by Aldosterone-producing Adrenal Adenoma

Cho YK, Oh H, Kang SM, An S, Huh JY, Lee JH, Lee WJ

17α-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia and is characterized by primary amenorrhea, delayed puberty and hypertension. Although 17α-hydroxylase deficiency mimics mineralocorticoid-induced hypertension, impaired sexual development can...
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Successful pregnancy and delivery of a patient with congenital adrenal hyperplasia

Mun DH, Yun HN, Kim JW, Kim YH, Song TB

Congenital adrenal hyperplasia (CAH) during pregnancy is a rare condition. Only a few cases have been reported in the literature. CAH patients has lower pregnancy rate compared to normal women....
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Untreated Congenital Adrenal Hyperplasia with 17-alpha Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor

Lee SJ, Song JE, Hwang S, Lee JY, Park HS, Han S, Rhee Y

Congenital adrenal hyperplasia (CAH) with 17alpha-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women and...
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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

Hong G, Park HD, Choi R, Jin DK, Kim JH, Ki CS, Lee SY, Song J, Kim JW

CYP21A2 mutation analysis of congenital adrenal hyperplasia (CAH) is challenging because of the genomic presence of a homologous CYP21A2 pseudogene and the significant incidence of pseudogene conversion and large deletions....
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A Case of Bilateral Adrenal Myelolipomas with Congenital Adrenal Hyperplasia

Lee JH, Kim JY, Kwon JW, Lee JK, Jeon EJ, Jung ED

Adrenal myelolipoma (AML) is a rare, usually benign, and nonfunctioning tumor. About 7-15% of adrenal incidentalomas are AMLs, composed of normal hematopoietic elements and mature adipose tissue. AML is usually...
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