No abstract available.
Adrenal Hyperplasia, Congenital* ; Adrenogenital Syndrome*

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 following the treatment.
Adrenalectomy ; Adrenogenital Syndrome*

No abstract available.
Adrenogenital Syndrome* ; Congenital Hypothyroidism*

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 urethral meatus and pubic hairs, was herein presented with brief review of literatures.
Adrenogenital Syndrome* ; Clitoris ; Female ; Genitalia ; Hair ; Humans

Adrenocortical adenomas are relatively rare tumor in retroperitoneum, and most cases are nonfunctioning tumors. Recently, we experienced two cases of functioning Adrenocortical adenomas giving rise to adrenogenital syndrome and Cushing's syndrome.
Adrenal Glands ; Adrenocortical Adenoma* ; Adrenogenital Syndrome ; Cushing Syndrome

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 precocity in males. Here, a case of adrenogenital syndrome developed in 14 year-old Korean female was presented. She had an enlarged clitoris and vaginal introitus communicated to the urethra interior to the urethral meatal opening at the perineum, resembling perineal hypospadiac penis. Exploration of the pelvic cavity and left adrenal gland revealed normal female internal genital organs and hyperplastic adrenal gland. Constructive operation including vaginoplasty and clitoridectomy was performed.
Adolescent ; Adrenal Glands ; Adrenal Hyperplasia, Congenital ; Adrenogenital Syndrome* ; Androgens ; Circumcision, Female ; Clitoris ; Female ; Genitalia ; Heterosexuality ; Humans ; Male ; Metabolism ; Penis ; Perineum ; Urethra

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 the frequency and the type of the responsible mutations differ according to the ethnic background and the type of mutation can predict the clinical outcomes such as salt losing type (SL), simple virilizing type (SV) and non-classic type (NC). METHODS: We have analyzed CYP21 genes in 55 Korean cases (110 chromosomes) of CAH by Southern blotting, PCR-dot hybridization and PCR amplification-created restriction site method. The patients include 43 cases of SL and 12 of SV. None of the NC was found. RESULTS: We found the mutations in 94% (103/110) of the examined chromosomes. A total of 10 types of mutations were discovered. The mutations include aberrant splicing of intron 2 (i2, 35%), CYP21 gene deletion (32%) and I172N (11%) in order. When the relationship between the clinical types and genotypes were correlated, most of the SL patients have either i2 (42%) or CYP21 gene deletion (41%), while SV patients have I172N (33%) or P30L (21%). The parents' mutation was investigated in 20 cases. In 4 families, one of the parents was not the obligatory heterozygote carrier i.e. did not have a mutation. The results suggest the high incidence of de novo mutation. CONCLUSION: We have identified the frequency of mutations of the CYP21 in Korean AGS patients. Our results shows that the clinical type of AGS can be predicted from the genotypes of CYP21. Also the high incidence of de novo mutation of CYP21 confirmed the genetic instability of major histocompatibility III region where the CYP21 is located.
Adrenal Hyperplasia, Congenital ; Adrenogenital Syndrome* ; Blotting, Southern ; Cholesterol ; Gene Deletion ; Genotype* ; Heterozygote ; Histocompatibility ; Humans ; Hydrocortisone ; Incidence ; Introns ; Parents ; Phenotype* ; Polymerase Chain Reaction ; Steroid 21-Hydroxylase*

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 autosomal recessive disease in close genetic linkage with HLA. The common clinical manifestations of congenital adrenal hyperplasia is progressive virilization in both sexes, abnormal external genitalia in the female, rapid growth with or without salt losing syndrome. We experienced tow female siblings aged 8 and 12 years, who had rapid growth without salt losing syndrome, ambiguous genitalia, virilizing symptoms and other typical laboratory findings such as 17-ketosteroid in 24 hour urine and normal plasma renin activities, Diagnosis was made by typical clinical manifestations, 46, XX in karyotype, and some hormonal study. After the operation of clitorial recession, they have been treated orally with cortisone acetate. The review of literature was made briefly.
Adrenal Hyperplasia, Congenital* ; Adrenogenital Syndrome ; Cortisone ; Diagnosis ; Disorders of Sex Development ; Female ; Genetic Linkage ; Genitalia ; Humans ; Hydrocortisone ; Karyotype ; Plasma ; Renin ; Siblings* ; Steroid 21-Hydroxylase* ; Virilism

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 urethra and vagina both empty. Postoperative genital structures showed cosmetically good shape.
Adrenogenital Syndrome* ; Child, Preschool ; Clitoris ; Female ; Humans ; Urethra ; Vagina

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 13 year-old girlsare presented with brief review of literatures.
Adolescent ; Adrenogenital Syndrome* ; Child ; Humans ; Hyperplasia ; Infant ; Siblings* ; Virilism