Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.
46, XY Disorders of Sex Development ; Androgen-Insensitivity Syndrome ; Disorders of Sex Development ; Female* ; Gonadal Dysgenesis ; Gonadal Dysgenesis, 46,XY ; Gonads ; Humans ; Karyotype* ; Male

Partial Gonadal Dysgenesis (PGD) is a rare disorder of sexual development defined by sexual ambiguity and the presence of mullerian structures due to variable degrees of testicular dysgenesis in individuals with a non-mosaic 46, XY karyotype. Due to incomplete gonadal development, the external phenotype would rely on the degree of testicular function. The dysgenetic gonads found in PGD have high risk for malignant transformation. Although ambiguous genitalia was noted upon birth, a case diagnosed in adulthood is presented. Discordance between sex of rearing and the psychosexuality of the patient prompted consult. On work up, 46, XY was noted on karyotyping but presence of a uterus was seen on ultrasound. Hormonal assay revealed elevated levels of FSH and LH, while testosterone levels were low and estradiol was high. Gonadoblastoma was noted on final histopathologic evaluation. This report shall tackle thorough preoperative evaluation, surgical and postoperative management of individuals with PGD.
Gonadal Dysgenesis ; Disorders of Sex Development ; Disorder of Sex Development, 46,XY

Swyer syndrome is a type of gonadal dysgenesis wherein a 46,XY karyotype presents with a female phenotype. It is a rare cause of disorder in sexual development that occurs in 1:100,000 births. Local studies are currently limited to few case reports. Sex-determining region on the Y chromosome gene mutation is the root cause of nonfunctional gonads with no hormonal or reproductive potential. They are born with normal female external genitalia but not suspected until puberty when menses do not occur or if secondary sexual characteristics do not develop. This report presents the case of a 23-year-old phenotypically female presenting with primary amenorrhea and hypogastric discomfort. Ultrasound revealed an infantile cervix and uterus with streak left ovarian tissue and a cystic mass on the right pelvic area. Gonadotropin levels were elevated, and the karyotype showed a normal male 46,XY. Laparoscopic bilateral gonadectomy with salpingectomy was done, which revealed dysgerminoma on bilateral ovarian tissues. In conclusion, this report describes a rare case of Swyer syndrome associated with ovarian dysgerminoma. Accurate and prompt diagnosis, using a systematic approach in evaluating primary amenorrhea, is crucial in initiating treatment. Our goal is to ensure hormonal replacement, fertility preservation, psychosexual and emotional stress reduction, and overall patient survival.
Disorders of Sex Development ; Dysgerminoma ; Gonadal Dysgenesis, 46,XY

From the stand point of understanding the pathophysiology of abnormalities in sexual development, disorders can be categorized as resulting from derangements in any of the 3 principal processes involved in sexual differentiation, namely, disorders of genetic sex, disorders of gonadal sex, and disorders of phenotypic sex. During the last 5 years we have found 60 cases of disorders of sexual differentiation and tried to classify the cases according to the schematization of the above. The cases were reviewed with the observation on karyotype, external or internal or internal genitalia, in some, hormonal balance, utilizing various methods of operative examination The disorders of genetic sex consist of 3 cases of true hermaphroditism, 7 cases of Klinefelter`s syndrome, 9 cases of Turner`s syndrome, 1 case of sex reversal syndrome (XX male) l case of mixed gonadal dysgenesis, and l case of dysgenetic male pseudohermaphroditism. The disorders of gonadal sex consist of 6 cases of pure gonadal dysgenesis. The disorders of phenotypic sex consist of 11 cases of adrenogenital syndrome, 7 cases of male pseudohermaphroJitism, and 2 case of congenital absence of vagina. The remained 12 cases which were suspected as disorders of sexual differentiation were not able to be differentiated according to the inadequacy of diagnostic studies.
46, XY Disorders of Sex Development ; Adrenogenital Syndrome ; Genitalia ; Gonadal Dysgenesis ; Gonadal Dysgenesis, Mixed ; Gonads ; Humans ; Karyotype ; Male ; Ovotesticular Disorders of Sex Development ; Sex Differentiation* ; Sexual Development ; Vagina

Male pseudohermaphroditism can be caused by absent m llerian regression, inadequate synthesis of testosterone, inadequate synthesis of dihydrotestosterone, or androgen receptor deficiency. Defects in either the production or the action of androgenic steroids have been demonstrated to cause pseudovaginal perineoscrotal hypospadias, a syndrome of male pseudohermaphroditism. This is mostly caused by a deficiency of 5alpha-reductase, which controls the conversion of testosterone to 5alpha-dihydrotestosterone. We report a case of male pseudohermaphroditism due to 5alpha-reductase deficiency who was born with ambiguous genitalia and was reared as female.
46, XY Disorders of Sex Development ; Androgen-Insensitivity Syndrome ; Dihydrotestosterone ; Disorders of Sex Development ; Female ; Humans ; Hypospadias* ; Male ; Steroids ; Testosterone

During the last 6.5 years 49 patients with inter sex were managed at the Department of Urology, Seoul National University Hospital. The median age was 8.8 years (from 2 months to 37 years). The patients consist of 15 female pseudohermaphroditism (adrenogenital syndrome), 4 true hermaphroditism, 21 male pseudohermaphroditism, 3 mixed gonadal dysgenesis, 3 Turner`s syndrome and 3 miscellaneous inter sex including Smith-Lemli-Opitz syndrome and Prader-Willi syndrome. Though early diagnosis and treatment are most important, only 10 patients (20%) were diagnosed before 2.5 years of age.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Disorders of Sex Development* ; Early Diagnosis ; Gonadal Dysgenesis, Mixed ; Humans ; Ovotesticular Disorders of Sex Development ; Prader-Willi Syndrome ; Seoul ; Smith-Lemli-Opitz Syndrome ; Urology

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

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

A chromosomal study was performed in a tota1 of 98 patients with suspected Y chromosomal abnormalities during past 1-1/2 years (Feb. 1984 -Aug. 1985). Karyotypes were obtained using short-term blood culture. Of these 43 (44%) patients had abnormal chromosome complements. Among all patients with chromosome abnormalities, 88% (38/43) had aberrations of chromosome number and others 32% (5/42) had aberrations of chromosome structure. The results of chromosomal study in various groups showed as follows: l. In 34 cases of Klinefelter's syndrome, there were 31 cases (91%) of 47,XXY, 1 case of 46,XX,47, XXY, 1 case of 48, XXXXY and 1 case of 46,XX/46,XY/47,XXY. 2. AII 3 cases of mixed gonadal dysgenesis had 45,X/46,XY. 3. l case of true hermaphroditism had 46,XX. 4. Z cases of male Turner`s syndrome, 6 cases of male pseudohermaphroditism and 1 case of agonadism had 46,XY. 5. In 6 cases of female pseudohermaphroditism, there were 4 cases of 46,XX, 1 case of 46,XX, inv(9) and 1 case of 46,XX, t (14q, 21q). 6. In 28 cases of hypogonadism (excluding Klinefelter`s syndrome), there were 25 cases (89%) of 46, XY, 1 case of 46,XY, 15s-, 1 case of 46,XY, inv(9) and 1 case of 46,XY/46, XY,t(7 : 14). 7. 1 case of cryptorchism had 47,XY,+21. 8. All of 5 cases of hypospadia, 5 cases of cryptorchism, 3 cases of hypospadia with cryptorchism, 2 cases of small phallus, 1 case of concealed penis and 1 case of normal male who wanted to correct his registered sex had 46,XY.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Chromosome Aberrations* ; Chromosome Structures ; Complement System Proteins ; Cryptorchidism ; Cytogenetics* ; Down Syndrome ; Female ; Gonadal Dysgenesis, Mixed ; Humans ; Hypogonadism ; Hypospadias ; Karyotype ; Klinefelter Syndrome ; Male ; Ovotesticular Disorders of Sex Development ; Penis ; Y Chromosome

The testicular feminization is the most common type of male pseudohermaphroditism. Mutation of androgen receptor gene impairs normal sexual differentiation in genetic male (46, XY) and subsequently develops secondary female characteristics. We report three cases of complete testicular feminization syndrome with normal development of female external genitalia, but with blindly ended vagina and inguinal or pelvic masses. Microscopic examination of the testes and their adnexa had three components: 1) A testis composed of immature tubules, prominent Leydig cells and a spindle cell stroma resembling ovarian stroma with hamartomatous nodule or Sertoli cell adenoma, 2) a white, whorled, firm, smooth muscle body in the medial pole of the testis, and 3) a lateral adnexal cysts of varying sizes.
46, XY Disorders of Sex Development ; Adenoma ; Androgen-Insensitivity Syndrome* ; Cryptorchidism* ; Disorders of Sex Development ; Female ; Genitalia ; Humans ; Leydig Cells ; Male ; Muscle, Smooth ; Receptors, Androgen ; Sex Differentiation ; Testis ; Vagina