OBJECTIVETo discuss the treatment of male adrenogenital syndrome.

METHODSThe clinical data of 17 patients with male adrenogenital syndrome, including 15 cases of congenital adrenal hyperplasia (CAH) and 2 cases of adrenocortical tumors, were analyzed retrospectively. The patients with 21-hydroxylase deficiency (21-OHD) and 11beta-hydroxylase deficiency (11beta-OHD) were treated with adrenocortical hormone, those with 17-hydroxylase deficiency (17-OHD) received sexual glands excision and estrogen besides adrenocortical hormone, and those with adrenocortical tumors underwent surgical removal.

RESULTSSexual precocity symptoms disappeared and abnormal laboratory results returned to normal in 5 of the 21-OHD patients, who adhered to hormone treatment, and height growth was improved in the other 2, who received the medicine at an early age. The testicular adrenal rest (TAR) tumor was reduced dramatically in 1 case of 21-OHD after treatment. A left TAR found in another 21-OHD patient who discontinued the hormone therapy became softened after the resumption. Sperm could be seen in the semen of 3 21-OHD patients, but in small quantity and of poor quality. One 11beta-OHD patient with sexual precocity symptoms and hypertension became normal after the hormone treatment, and six 17-OHD patients maintained their female sexuality after the hormone treatment and operation. No relapse was found after resection of the adrenocortical tumors.

CONCLUSIONAdrenocortical hormone therapy helps improve the height growth and testicular function of CAH patients, and surgical removal is necessary for adrenocortical tumors.

Adolescent ; Adrenal Cortex Neoplasms ; surgery ; Adrenal Hyperplasia, Congenital ; drug therapy ; Adrenogenital Syndrome ; drug therapy ; surgery ; therapy ; Adult ; Child ; Child, Preschool ; Glucocorticoids ; therapeutic use ; Humans ; Infant ; Infant, Newborn ; Male ; Retrospective Studies

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*

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 lffian duct structures differentiate partially as phenotypic males. They usually manifest masculinization of the external genitalia as a result of excess endogenous androgens. Most female pseudohermaphrodities have one of the types of congenital virilizing adrenal hyperplasia. Adrenogenital syndrome is inborn errors transmitted by autosomal recessive genes and may be due to defects in any of the enzymic steps in the biosynthesis of cortisol. Most affected individuals have a failure of 21-hydroxylation which prevents the conversion of 17 alpha-hydroxyprogesterone to 11-deoxycortisol. Such a defect in 21-hydroxylase leads to excessive production of adrenal androgens causing virilization. The treatment is early endocrinologic support and surgical reconstruction. There are some considerations in surgical repairs including normal sized clitoris with adequate erogenous sensation, sufficiently wide vaginal introitus and normal aesthetic appearance of the external genitalia for her normalized life as a female. We have experienced four cases of female pseudohermaphroditism due to adrenogenital syndrome. In two cases, we performed clitoroplasty with nerve sparing technique, vulvoplasty with mons pubis augmentation, vaginoplasty with posterior perineal flap and urethral reconstruction. In the other cases, we performed clitoroplasty with nerve sparing technique, vulvoplasty and vaginoplasty There was no specific operative complication and the result of the correction was satisfactory.
17-alpha-Hydroxyprogesterone ; 46, XX Disorders of Sex Development* ; Adrenogenital Syndrome* ; Androgens ; Clitoris ; Cortodoxone ; Female* ; Genes, Recessive ; Genitalia ; H-Y Antigen ; Humans ; Hydrocortisone ; Hyperplasia ; Karyotype ; Male ; Sensation ; Steroid 21-Hydroxylase ; Virilism

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 MHC class III region on the short arm of chromosome 6. Most of the genes in this region are highly polymorphic and crowded. Also the CYP21B gene is accompanied by its pseudogene (CYP21A) and tandemly arranged with two genes of fourth component of complement. This highly complex gene arrangement in this area may predispose genetic unstability of CYP21 genes,i.e. mutations. In the current study, we tried to investigate the frequency of duplication and deletion of CYP21 genes and pattern of the genetic alteration of these genes by RFLPs. We also compared the genetic alteration of CYP21 in normal subjects with those of the CAH patients. According to our study, 15% of the normal Korean population have duplication or deletion of CYP21. There was one normal subject with heterozygous deletion of CYP21B gene. Of the 5 CAH patients examined, we found abnormal patterns in 2 patients. One was a large scale gene conversion and the other was a deletion of CYP21B and C4 locus II genes with gene conversion. These results suggest that high frequency of duplication and deletion of CYP21 and C4 in the general population may provide the genetic pool of instable CYP21 genes and these duplicated or deleted genes may result in gene conversions between CYP21A(pseudogene) and CYP21B(true gene) by preventing the normal recombination event.
Adrenogenital Syndrome* ; Arm ; Chromosomes, Human, Pair 6 ; Complement System Proteins ; Gene Conversion ; Gene Order ; Genome, Human ; Humans ; Polymorphism, Restriction Fragment Length ; Pseudogenes ; Recombination, Genetic ; Steroid 21-Hydroxylase*

Major known causes of neonatal adrenal insufficiency are prolonged maternalsteroid use, adrenal hemorrhage from the perinatal stress and adrenogenital syndrome. Theoretically adrenal aplasia might be a cause of neonatal adrenal insufficiency but it has not been reported yet. We had experienced a case of adrenal aplasia in a 5 day-old male neonate whose chief complaint was hyperpigmentation. His laboratory findings were compatible with adrenal insufficiency and adrenal gland was not detected by the ultrasonography and thin section abdominal CT. We reported a case of adrenal aplasia with a brief review of the related literature.
Adrenal Glands ; Adrenal Insufficiency ; Adrenogenital Syndrome ; Hemorrhage ; Humans ; Hyperpigmentation ; Infant, Newborn ; Male ; Tomography, X-Ray Computed ; Ultrasonography

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

It is well known that proper gender assignment and treatment to a neonate born with ambiguous genitalia are extremely important. We reviewed seven patients with ambiguous genitalia who were surgically managed at our department during recent 5 years. The median age was 12.1 years (from 3 to 24 years) and patients consist of three female pseudohermaphroditism (adrenogenital syndrome), one true hermaphroditism, one male pseudohermaphroditism and two mixed gonadal dysgenesis. Three patients were managed with clitoral recession and vaginoplasty, each of them with clitoral recession vaginoplasty and gonadectomy, with clitoral recession and gonadectomy, with clitoral recession, with gonadectomy and bilateral mastectomy. One patient with adrenogenital syndrome was raised as male, but re-assigned and surgically corrected as female at her age of 16 years. Another one patient with true hermaphroditism was raised as male who underwent excision of female internal genitalia, gonadectomy and bilateral mastectomy in considering of patient's gender identity, appearance of external genitalia and parent's proposal although the karyotype was 46 XX. We suggest that gender assignment and surgical correction must be done as early as possible after full evaluation of fertility feasibility, karyotype, sex ability and patient and parent's proposal.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Adrenogenital Syndrome ; Disorders of Sex Development* ; Female ; Fertility ; Gender Identity ; Genitalia ; Gonadal Dysgenesis, Mixed ; Humans ; Infant, Newborn ; Karyotype ; Male ; Mastectomy ; Ovotesticular Disorders of Sex Development

No abstract available.
Adrenogenital Syndrome* ; Congenital Hypothyroidism*

Female pseudohermaphrodities are 46XX genetic females with normal Mullerian derivatives, but have various degrees of ambiguous external genitalia. While most of them are commonly associated with adrenogenital syndrome, some of them have been occasionally associated with maternal ingestion of testosterone or synthetic progestational agent, maternal virilizing tumor or rarely idiopathic. Herein, we present three cases of female pseudohermaphroditism which is unrelated with adrenogenital syndrome. One case is resulted from maternal ingestion of progestational agent during the first trimester of pregnancy, and the other idiopathic.
46, XX Disorders of Sex Development* ; Adrenogenital Syndrome ; Eating ; Female* ; Genitalia ; Humans ; Pregnancy ; Pregnancy Trimester, First ; Testosterone

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