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

PURPOSE: A change in gender assignment after 2 years of age is associated with severe psychological problems for the child and family. It is important that a definitive diagnosis be determined as quickly as possible. The treatment of ambiguous genitalia will be different by individual difference. We reviewed 16 cases of ambiguous genitalia patients with the object of encouraging early diagnosis and proper treatment individually. MATERIALS AND METHODS: We reviewed retrospectively 16 patients with ambiguous genitalia who were surgically managed at our department. Diagnostic workup included chromosomal analysis, blood and urine steroid measurement, hormonal study and radiologic study. The patients consisted of female pseudohermaphroditism in five cases, male pseudohermaphroditism in nine cases, true hermaphroditism and mixed gonadal dysgenesis in one case in each. The groups were analyzed according to karyotype, sex of rearing, age at diagnosis, age at operation, op procedure, post op complication and follow up. RESULTS: Five cases of female pseudohermaphroditism were raised as female in three cases and male in two cases, re-assigned and surgically corrected as four females and one male. Nine cases of male pseudohermaphroditism were raised as female in six cases and male in three cases, re-assigned and surgically corrected as three females and six males. One case of true hermaphroditism was surgically corrected as male. One case of mixed gonadal dysgenesis was surgically corrected as female and then given hormonal therapy. Four patients had sex conversion after 2 years of age. CONCLUSIONS: Though early diagnosis and treatment are most important, most patients were diagnosed and treated after 2 years of age. A continuous effort should be made to educate parents and alert attending physicians so that early diagnosis and treatment of these patients could be made as soon as possible.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Child ; Diagnosis ; Disorders of Sex Development* ; Early Diagnosis ; Female ; Follow-Up Studies ; Gonadal Dysgenesis, Mixed ; Humans ; Individuality ; Karyotype ; Male ; Ovotesticular Disorders of Sex Development ; Parents ; Retrospective Studies