- Hormone profile in patients with simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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Lee JY, Oh BH
- KMID: 2259398
- Korean J Obstet Gynecol.
- 1992 Apr;35(4):498-508.
No abstract available. -
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- Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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Oh BH
- KMID: 1686899
- J Korean Soc Endocrinol.
- 1993 Dec;8(4):379-386.
No abstract available. -
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- Two Cases of Simple Virilizing Congenital Adrenal Hyperplasia with Compound Heterozygous Mutations of CYP21 Gene
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Kim KS, Choi YS, Bai YS, Rha SY, Jo YS, Shong M
- KMID: 2063542
- J Korean Endocr Soc.
- 2007 Aug;22(4):299-304.
- doi: 10.3803/jkes.2007.22.4.299
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 testicular adrenal rest tumor in a male child with congenital adrenal hyperplasia
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Kim JH, Yun KA, Shin CH, Yang SW
- KMID: 2280199
- Korean J Pediatr.
- 2008 Sep;51(9):1018-1022.
- doi: 10.3345/kjp.2008.51.9.1018
Testicular adrenal rest tumors are a well-known complication in male patients with congenital adrenal hyperplasia. Corticosteroid suppressive therapy usually results in the regression of these tumors. We describe a patient... -
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- Clinical and molecular review of atypical congenital adrenal hyperplasia
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Sahakitrungruang T
- KMID: 1789524
- Ann Pediatr Endocrinol Metab.
- 2015 Mar;20(1):1-7.
- doi: 10.6065/apem.2015.20.1.1
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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- Congenital Adrenal Hyperplasia with 21-hydroxylase Deficiencies in Twins
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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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- A case of adrenocortical adenoma following long-term treatment in a patient with congenital adrenal hyperplasia
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Lho SR, Park SH, Jung MH, Lee BC
- KMID: 2279252
- Korean J Pediatr.
- 2007 Mar;50(3):302-305.
- doi: 10.3345/kjp.2007.50.3.302
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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- Two Siblings of Non Salt Losing Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
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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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- A Case Of Male Infertility Secondary To Congenital Adrenal Hyperplasia
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Kwak C, Paick JS, Lee SW, Kim SH
- KMID: 2327918
- J Korean Androl Soc.
- 1993 Dec;11(2):129-134.
Congenital adrenal hyperplasia, a deficiency of an adrenal enzyme involved in the biosynthesis of cortisol, is a recognized cause of infertility. Abnormal adrenal steroid production inhibits the release of gonadotropins... -
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- Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia
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Song JH, Lee KH, Kim SD, Cho BS
- KMID: 2052298
- Electrolyte Blood Press.
- 2007 Dec;5(2):140-146.
- doi: 10.5049/EBP.2007.5.2.140
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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- Three Cases of Congenital Adrenal Hyperplasia Owing to Multiple Mutations of CYP21 Gene
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Heo J, Yu JH, Jeong DK
- KMID: 2144627
- J Korean Soc Pediatr Endocrinol.
- 2001 Dec;6(2):176-181.
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. We have analyzed CYP21 genes... -
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- A case of congenital adrenal hyperplasia presenting as adrenal incidentaloma
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Choi MJ, Kim BH, Sohn KM, Yang HN, Ryu OH, Choi MG, Yoo HJ
- KMID: 2258113
- Korean J Med.
- 2009 Aug;77(Suppl 1):S103-S108.
Congenital adrenal hyperplasia, an autosomal recessive disorder resulting from an enzymatic defect during cortisol biosynthesis (i.e., 21-hydroxylase deficiency), is characterized by impaired production of cortisol with or without impaired production... -
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- Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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Choi JH, Kim GH, Yoo HW
- KMID: 2161299
- Ann Pediatr Endocrinol Metab.
- 2016 Mar;21(1):1-6.
- doi: 10.6065/apem.2016.21.1.1
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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- Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care
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Choi JH, Yoo HW
- KMID: 2371375
- Korean J Pediatr.
- 2017 Feb;60(2):31-37.
- doi: 10.3345/kjp.2017.60.2.31
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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- Molecular Diagnosis of 21-hydroxylase (CYP21) Gene mutations in Congenital Adrenal Hyperplasia
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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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- A Case of Congenital Adrenal Hyperlasia Misdiagnosed as Leydig Cell Tumor
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Kim M, Han HS
- KMID: 2144628
- J Korean Soc Pediatr Endocrinol.
- 2001 Dec;6(2):182-186.
We experienced a boy manifesting sexual precocity with unilateral testicular tumor, who was finally diagnosed as CAH with 21-hydroxylase deficiency. Initial laboratory findings were compatible with peripheral precocious puberty. Ultrasonogram... -
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- A Case of Congenital Adrenal Hyperplasia due to 11beta-Hydroxylase Deficiency
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Ryu OH, Yoo HJ, Park SY, Kwon SB, Park SS, Kim HY, Lee KW, Seo JA, Oh JH, Kim SG, Kim NH, Choi KM, Baik SH, Choi DS
- KMID: 2200472
- J Korean Soc Endocrinol.
- 2004 Feb;19(1):58-63.
Congenital adrenal hyperplasia refers to a group of autosomal recessive disorders that is defective in the synthesis of cortisol. The enzymes most often affected are 21-hydroxylase and 11beta hydroxylase. The... -
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- The Clinical Characteristics of Congenital Adrenal Hyperplasia
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Park SJ, Seo JY, Kim CJ, Woo YJ
- KMID: 2172269
- Chonnam Med J.
- 2009 Aug;45(2):105-110.
- doi: 10.4068/cmj.2009.45.2.105
This study was performed to investigate the clinical features of congenital adrenal hyperplasia (CAH) with steroid 21-hydroxylase deficiency and to compare the salt-wasting (SW) type with the simple virilizing (SV)... -
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- Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center
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Yoo Y, Chang MS, Lee J, Cho SY, Park SW, Jin DK, Park HD
- KMID: 2266364
- Ann Pediatr Endocrinol Metab.
- 2013 Sep;18(3):128-134.
- doi: 10.6065/apem.2013.18.3.128
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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- Successful pregnancy and delivery of a patient with congenital adrenal hyperplasia
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Mun DH, Yun HN, Kim JW, Kim YH, Song TB
- KMID: 2152644
- Obstet Gynecol Sci.
- 2016 Jan;59(1):50-53.
- doi: 10.5468/ogs.2016.59.1.50
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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