No abstract available.
46, XX Disorders of Sex Development* ; Female* ; Humans

No abstract available.
46, XX Disorders of Sex Development* ; Adrenal Hyperplasia, Congenital* ; Female* ; Humans

No abstract available.
46, XX Disorders of Sex Development* ; Adrenal Hyperplasia, Congenital* ; Female* ; Humans

17alpha- hydroxylase deficiency is a rare form of congenital adrenal hyperplasia and characterized by the coexistance of hypertension caused by the hyperproduction of mineralocorticoid precursors and sexual abnormalities, such as female pseudohermaphroditism and sexually infantile female with 46,XX karyotype or male pseudohermaphroditism with 46, XY karyotype, due to impaired production of sex hormone. We experienced a case of 17alpha- hydroxylase deficiency (46,XX) presented with primary amenorrhea, sexual infantilism, and hypertension. We report this case with a brief review of the concerned literatures.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Adrenal Hyperplasia, Congenital ; Amenorrhea* ; Female ; Humans ; Hypertension* ; Karyotype ; Sexual Infantilism

Anomalous sexual development causing ambiguous genitalia is largely categorized by disorders of gonadal differentiation, female pseudohermaphroditism and male pseudohermaphroditism. And the most common cause of ambiguous genitalia is congenital adrenal hyperplasia causing female pseudohermaphroditism. We report a case of female pseudohermaphrodite developed in 16 year-old female who has a phallic urethra, normal breast development and normal menstruation without previous specific treatment. Constructive operation including clitoroplasty and vaginoplasty was performed.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Adolescent ; Adrenal Hyperplasia, Congenital ; Breast ; Disorders of Sex Development* ; Female ; Gonads ; Humans ; Menstruation ; Sexual Development ; Urethra

Intersex is the state of having ambiguous or inappropriate genitalia due to abnormalities of normal mechanisms for sexual development. Three broad subcategories of intersex have been defined according to the histology of the gonad: Female & male pseudohermaphroditism and true hermaphroditism. Twenty two cases of intersex are described. Among them, true hermaphroditism was 7 cas-es, female pseudohermaphroditism 10 cases and male pseudohermaphroditism 5 cases. The presenting symptoms, age of diagnosis, gender role, histologic findings of gonad & tre-atment are discussed. Review of literature and reference on intersex was attempted briefly.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Diagnosis ; Female ; Gender Identity ; Genitalia ; Gonads ; Humans ; Ovotesticular Disorders of Sex Development ; Sexual Development

The XX-male or sex reversal syndrome is a rare entity, which a is phenotypic man with a 46, XX female karyotype. Since it was first reported by la Chapelle and associates in 1964, more than 150 XX males have been reported. Recently we experienced a 18-year-old XX-male with gynecomastia and hypospadias. Clinical, endocrinological and genetically studies were presented and theories regarding the etiology of the XX-male syndrome were discussed with review of literatures.
46, XX Testicular Disorders of Sex Development ; Adolescent ; Female ; Gynecomastia ; Humans ; Hypospadias ; Karyotype ; Male

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

The most common etiology for female pseudohermaphroditism is congenital adrenal hyperplasia, which accounts for more than 60 percent of children with ambiguous genitalia, and is treated with cortisol replacement and surgical correction of ambiguous genitalia. Flap vaginoplasty, the inverted U-Shaped type has been applied worldwide to the patient with low vaginal entry. The most frequent complication of the operation is contraction of the new vaginal introitus as a result of ischemic and fibrotic changes in the overlapping suture line between the flap and posterior vaginal wall. Maintenance of a good blood supply for the flap and tension free anastomosis should always be kept in mind to avoid this complication. We experienced a vaginoplasty with labioscrotal flap instead of the inverted U-shaped flap and achieved a good result in a 14-year-old girl with low vaginal entry due to congenital adrenal hyperplasia. The labioscrotal flap seems to be more suitable than inverted U-shaped flap for vaginoplasty because the labioscrotal skin is more elastic and more easily elongated than the perineal skin.
46, XX Disorders of Sex Development* ; Adolescent ; Adrenal Hyperplasia, Congenital* ; Child ; Disorders of Sex Development ; Female* ; Humans ; Hydrocortisone ; Skin ; Sutures

Transsexuals are those who have appropriate chromosomal, hormonal and anatomical characteristics corresponding to their sexual phenotype but feel strongly with respect to their sexual identity, that they belong to the opposite sex. For this reason, they wish to be reassigned to their psychological sex by means of endocrinological and surgical treatment. Although its etiology is unknown, the majority of modern psychiatrists and behavioral scientists agree that the transsexualism is a disease entity belonging to gender identity disorder or gender dysphoria but not to be confused with the transversite, honosexualism or psychiatric problem. Three kinds of hermaphroditism have been defined according to the histology of the gonad : female pseudohermaphroditism, male pseudohermaphroditism and true hermaphroditism. It is very difficult, if not possible to assign sex especially in neonate and young children. Once sex assignment has been decided and accepted by the patient, surgical intervention should be undertaken as soon as possible. For adults there are many kinds of operative techniques. We have operated 28 cases of transexualism patients by using the penile and scrotal skin flap. This technique is superb for improving sexual appearance and function, and finally for a good opportunity for social activity. We report the results of surgery.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Adult ; Child ; Disorders of Sex Development ; Female* ; Gender Identity ; Gonads ; Humans ; Infant, Newborn ; Male* ; Ovotesticular Disorders of Sex Development ; Phenotype ; Psychiatry ; Skin* ; Transsexualism*