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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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FEMALE PSEUDOHERMAPHRODITISM DUE TO ADRENOGENITAL SYNDROME

Cho SY, Chung HK, Park SJ, Kim YB, Yang SJ

  • KMID: 2119322
  • J Korean Soc Plast Reconstr Surg.
  • 1997 Jan;24(1):186-198.
Female pseudohermaphroditism due to adrenogenital syndrome is a condition in which individuals with a 46XX karyotype, negative H-Y antigen, normal mullerian duct derivatives, and a lack of development of w...
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Adrenogenital Syndrome Combined with Congenital Hypothyroidism

Choi JW, Cheong WS, Yi IK

  • KMID: 2208422
  • J Korean Pediatr Soc.
  • 1994 Nov;37(11):1607-1609.
No abstract available.
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Two Cases of Adrenogenital Syndromes Developed in Sisters

Kim BJ, Park YI, Min BK

  • KMID: 2114898
  • Korean J Urol.
  • 1988 Aug;29(4):651-655.
Virilization in infants and children is most commonly associated with congenitalbilateral cortical hyperplasia in the adrenogenital syndrome. Two cases of adrenogenital syndromes developed in sisters of a 15 and a...
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A Case of Reduction Clitoroplasty in Adrenogenital Syndrome

Lee SW, Choi SH

  • KMID: 2114788
  • Korean J Urol.
  • 1984 Jun;25(3):393-397.
Herein we presented a case of adrenogenital syndrome in 4-year-old female reconstructed by modified Allen-Spence clitoroplasty and vaginoplaty. She had a hypertrophied clitoris and a urogenital sinus into which the...
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Adrenogenital Syndrome with Congenital Adrenal Hyperplasia

Moon MS, Kim KN, Lee WG

  • KMID: 1698911
  • J Korean Pediatr Soc.
  • 1984 May;27(5):511-515.
No abstract available.
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Clinical Observation on Adrenogenital Syndrome

Cho HG, Min BK

  • KMID: 1912040
  • Korean J Urol.
  • 1984 Oct;25(5):663-669.
A clinical observation was made on patients of congenital adrenogenital syndrome who had been admitted to the Department of Urology, Chonnam University Medical School during the period from January 1972...
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A Case of Congenital Adrenogenital Syndrome

Rho YB, Kim HS, Min BK

  • KMID: 1884360
  • Korean J Urol.
  • 1982 Oct;23(6):834-836.
A case of adrenogenital syndrome which occurred in a girl of the age of 5 years, having the chief complaint of the abnormal external genitalia such as enlarged clitoris, abnormal...
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A Case of Adrenogenital Syndrome

Oh HS

  • KMID: 1677555
  • Korean J Urol.
  • 1973 Sep;14(3):239-244.
The adrenogenital syndrome owing to congenital adrenal hyperplasia is an inborn error of adreno-cortical metabolism, as a result of excessive adrenal androgens. producing heterosexual virlizing changes in females and isosexual...
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A Case of Congenital Adrenogenital Syndrome

Cha YI, Kim KN, Kim MH

  • KMID: 1884194
  • Korean J Urol.
  • 1970 Sep;11(3):163-167.
A 5 year old girl was visited with the chief complaint of abnormal genitalia from birth. Physical examination revealed enlarged clitoris, urogenital sinus formation, increased urinary 17-ketosteroid, Jailer's test positive...
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Congenital Adrenogenital Syndrome: Two Cases Report

Lee WS, Lee YS, Cha YI

  • KMID: 1677265
  • Korean J Urol.
  • 1969 Jun;10(2):75-81.
A study was made on the two cases of congenital adrenogenital syndrome. Cliteroplasty wag performed on the two cases in addition to adrenalectomy in one case. Good results were obtained...
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Adrenogenital Syndrome: A Case Report

Lee HY, Choi HS

  • KMID: 1679475
  • Korean J Urol.
  • 1967 Jun;8(1):33-40.
A 5 year-old girl was admitted to the hospital on April 18, 1967 to be investigated for genital anomalies such as greatly enlarged clitoris, sexual hair in axillae and on...
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