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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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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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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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Final Adult Height and Its Influencing Factors in Patients with Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency

Hong SY, Chung HR, Kim SY, Yi KH, Shin CH, Yang SW

  • KMID: 2321975
  • J Korean Soc Pediatr Endocrinol.
  • 2005 Jun;10(1):42-49.
PURPOSE: We evaluated adult final height and factors influencing adult height outcome in patients with congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. METHOD: We retrospectively reviewed medical records of 20...
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Molecular Diagnosis of 21-hydroxylase (CYP21) Gene mutations in Congenital Adrenal Hyperplasia

Lee HS, Cheon KW, Park YS, Han IK, Kang IS

  • KMID: 2262293
  • Korean J Obstet Gynecol.
  • 2001 Jun;44(6):1171-1177.
OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is most often caused by a deficiency in steroid 21-hydroxylase (21-OH), a microsomal enzyme encoded by the CYP21 gene....
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Factors Affecting the Presence of Menarche and Final Adult Height in Adult Female Patients with Congenital Adrenal Hyperplasia of 21-Hydroxylase Deficiency

Lee SY, Song CK, Jung MH, Hwang JS, Yang SW

  • KMID: 1605943
  • J Korean Pediatr Soc.
  • 2001 Jan;44(1):75-82.
PURPOSE: Amenorrhea and short stature are serious complications in patients with congenital adrenal hyperplasia of 21-hydroxylase deficiency(CAH). We analysed several factors influencing the presence of menarche and final adult height...
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A Study on the Relationship Between Genotype and Phenotype in Korean Patients with Congenital Adrenogenital Syndrome Caused by 21-hydroxylase Deficiency

Jin DK, Kim JS, Song SM, Park SJ, Hwang HZ, On HY, Oh PS, Koh SW, Uhm MR, Lee DH, Shin JH, Han HS, Kim HS, Ko CW, Yoo HW, Lee JS, Kim DH

  • KMID: 2199617
  • J Korean Soc Endocrinol.
  • 2000 Jun;15(2):237-247.
BACKGROUND: Congenital adrenal hyperplasia (CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. It appears that...
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Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients

Jin DK, Beck NS, Oh PS

  • KMID: 1963061
  • J Genet Med.
  • 1997 Sep;1(1):27-32.
Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia(CAH) and is caused by genetic impairment (CYP21B) of this enzyme. In the human genome, CYP21B is located within...
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Two Siblings of Non Salt Losing Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Lee SC, Suh BK, Lee BC

  • KMID: 2208316
  • J Korean Pediatr Soc.
  • 1995 Apr;38(4):574-581.
Congenital adrenal hyperplasia in caused by a defect in the biosynthesis of cortisol as a result of deviciency in one of the essential enzymes, most commonly 21-hydroxylase and is an...
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The Correlation between the Age and Predicted Adult Height, Final Adult Height in the Children with Congenital Adrenal Hyperplasia, Especially 21-Hydroxylase Deficiency

Yang SW, Moon HR

  • KMID: 2208531
  • J Korean Pediatr Soc.
  • 1994 Mar;37(3):300-308.
We studied the correlation between the bone age and the predicted adult height, final adult height in the 69 children (30 salt losing form and 39 non-salt losing form) diagnosed...
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Congenital Adrenal Hyperplasia with 21-hydroxylase Deficiencies in Twins

Kim YD, Choi JH, Park JH, Park HJ, Jeon SS

  • KMID: 2208493
  • J Korean Pediatr Soc.
  • 1994 Oct;37(10):1469-1473.
Congenital adrenal hyperplasia is inherited disorder of adrenal steroidogenesis. 21-hydroxylase deficiency is the most commone enzymatic defect and is divided into classic and late-onset or nonclassic forms. Both classic non-classic...
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Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Oh BH

  • KMID: 1686899
  • J Korean Soc Endocrinol.
  • 1993 Dec;8(4):379-386.
No abstract available.
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Hormone profile in patients with simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Lee JY, Oh BH

  • KMID: 2259398
  • Korean J Obstet Gynecol.
  • 1992 Apr;35(4):498-508.
No abstract available.
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