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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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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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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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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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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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Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

Yoo Y, Chang MS, Lee J, Cho SY, Park SW, Jin DK, Park HD

PURPOSE: The purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and...
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Two Cases of Simple Virilizing Congenital Adrenal Hyperplasia with Compound Heterozygous Mutations of CYP21 Gene

Kim KS, Choi YS, Bai YS, Rha SY, Jo YS, Shong M

Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), which is an inherited inability to synthesize cortisol. Actually, CAH is caused by mutations in the CYP21...
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A case of adrenocortical adenoma following long-term treatment in a patient with congenital adrenal hyperplasia

Lho SR, Park SH, Jung MH, Lee BC

As a result of the widespread use and enhanced quality of high-resolution radiological techniques, a recent report has revealed a relatively high prevalence of small adrenal tumors in patients with...
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Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia

Song JH, Lee KH, Kim SD, Cho BS

Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is an autosomal recessive disease, which leads to cortisol and aldosterone deficiency and hyperandrogenism. Typical medical treatment includes oral glucocorticoid and mineralocorticoid...
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A Case of Congenital Adrenal Hyperplasia Combined with a Testicular Adrenal Rest Tumor and Adrenal Incidentaloma

Cho GR, Chueh HW, Kim JP, Jung JA, Yoo JH, Yoon SK, Hwang KG

The fundamental defect among patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylse deficiency is the inability to synthesize cortisol and aldosterone adequately. Ineffective cortisol synthesis signals the hypothalamus and...
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Revaluation of Neonatal Screening Test for Congenital Adrenal Hyperplasia

Oh KI, Kim SJ, Kim DH, Kim JK, Jun YH, Choi JW, Lee JE

  • KMID: 2193516
  • J Korean Soc Pediatr Endocrinol.
  • 2006 Dec;11(2):192-198.
PURPOSE: Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due...
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The Behavioral and Psychic Masculinizing Scores and Its Related Factors in Female Patients with Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency

Hwang IT, Ryu SG, Yi KH

  • KMID: 2321978
  • J Korean Soc Pediatr Endocrinol.
  • 2005 Jun;10(1):64-70.
OBJECTIVE: We analyzed the degree of behavioral and psychic masculinization as well as factors influencing the masculinization in female patients with CAH caused by 21-hydroxylase deficiency. METHODS: We studied 26 patients...
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Genotype of Steroid 21-Hydroxylase Gene and Clinical Characteristics in Patients with Congenital Adrenal Hyperplasia 21-Hydroxylase Deficiency

Ko JM, Choi JH, Kim GH, Yoo HW

  • KMID: 2321977
  • J Korean Soc Pediatr Endocrinol.
  • 2005 Jun;10(1):57-63.
PURPOSE: This study was undertaken to characterize clinical features of congenital adrenal hyperplasia (CAH) with steroid 21-hydroxylase deficiency, identify appropriate dose of hydrocortisone to normalize endocrine abnormalities, and correlate between...
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Effect on Final Height of Gonadotropin-Releasing Hormone Agonist (GnRHa) in Children with Congenital Adrenal Hyperplasia

Yi KH

  • KMID: 2321976
  • J Korean Soc Pediatr Endocrinol.
  • 2005 Jun;10(1):50-56.
PURPOSE: Object of present study is to identify the effect of gonadotropin-releasing hormone agonis (GnRHa) treatment on final adult height in congenital adrenal hyperplasia (CAH) children with central precocious puberty....
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