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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

Lee HI, Kwon A, Suh JH, Choi HS, Song KC, Chae HW, Kim HS

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by...
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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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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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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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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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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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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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Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia

Yu MK, Jung MK, Kim KE, Kwon AR, Chae HW, Kim DH, Kim HS

PURPOSE: In male patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumors (TARTs) have been reported, however their prevalence and clinical manifestations are not well known....
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Clinical and molecular review of atypical congenital adrenal hyperplasia

Sahakitrungruang T

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for...
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Dried Blood Spot Testing for Seven Steroids Using Liquid Chromatography-Tandem Mass Spectrometry With Reference Interval Determination in the Korean Population

Kim B, Lee MN, Park HD, Kim JW, Chang YS, Park WS, Lee SY

BACKGROUND: Conventional screening for congenital adrenal hyperplasia (CAH) using immunoassays generates a large number of false-positive results. A more specific liquid chromatography-tandem mass spectrometry (LC-MS/MS) method has been introduced to...
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Testicular Adrenal Rest Tumor in 11-Beta-Hydroxylase Deficiency Driven Congenital Adrenal Hyperplasia

Kaynar M, Sonmez MG, Unlu Y, Karatag T, Tekinarslan E, Sumer A

Testicular adrenal rest tumors (TART) occur often as asymptomatic nodules in corticotropin-dependent lesions aberrant adrenal tissue in congenital adrenal hyperplasia (CAH) patients. The present manuscript is about an unusual case...
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Ultrasound Follow-Up of Testicular Adrenal Rest Tumors with Congenital Adrenal Hyperplasia: Report of Three Cases

Cho JY, Kim DW, Yoon SK, Nam KJ

While testicular adrenal rest tumor is generally a rare intratesticular tumor, it is frequent in patients with congenital adrenal hyperplasia. The tumors are diagnosed and followed up by ultrasound examination...
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Congenital lipoid adrenal hyperplasia

Kim CJ

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations...
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p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia

Park HW, Kwak BO, Kim GH, Yoo HW, Chung S

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia which is caused by mutations in the steroidogenic acute regulatory protein (StAR). The mutations in StAR...
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Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

Koh JW, Kim GH, Yoo HW, Yu J

Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study...
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Manifestation of Giant Bilateral Symptomatic Adrenal Myelolipomas in an Adult Patient with Congenital Adrenal Hyperplasia

Kim YM, Choi JH, Lee BH, Kim GH, Hong BS, Ryu YJ, Yoo HW

Adrenal myelolipoma is an uncommon non-functioning tumor that is composed of variable amounts of mature adipose tissue and scattered islands of hematopoietic elements, including erythroid, myeloid, lymphoid series, and megakaryocytes....
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A Case of Congenital Adrenal Hyperplasia Mimicking Cushing's Syndrome

Kim HJ, Kang M, Kim JH, Kim SW, Chung JH, Min YK, Lee MK, Kim KW, Lee MS

Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and...
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Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia

Jin HY, Choi JH, Kim GH, Lee CS, Yoo HW

Testicular adrenal rest tumors (TARTs) are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH) in male patients with congenital adrenal...
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Establishment of the Separate Cutoff Values of 17-alpha-hydroxyprogesterone in Neonatal Screening Program for Congenital Adrenal Hyperplasia according to Birth Weight

Song SM, Lee HJ, Yoon HR, Lee KR

  • KMID: 2200538
  • J Lab Med Qual Assur.
  • 2010 Dec;32(2):211-216.
BACKGROUND: In Korea, 17-alpha-hydroxyprogesterone (17-OHP) neonatal screening for congenital adrenal hyperplasia (CAH) has a high false positive rate. Preterm infants have higher levels of 17-OHP than term infants. We established...
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