Disorders of sexual development (DSD) defined as congenital conditions associated with atypical development of anatomical, gonadal or chromosomal sex, is a rare condition that may present with ambiguous genitalia. Included in the varied classes of DSD is mixed gonadal dysgenesis which is known to be due to mosaicism, a chromosomal aberration. Mosaic individuals may have concerns on growth, hormone balance, gonadal development, sex of rearing and fertility. This case report presents an 18-year old student who presented with primary amenorrhea, delayed secondary sexual characteristics and phenotypic features of Turner syndrome who, on chromosomal analysis revealed 45X0/46XY mosaicism. The patient underwent operative laparoscopy with bilateral gonadectomy on the basis of the increased risk of development of gonadal malignancy in phenotypic females with Y-chromosome material. Histopathological analysis revealed bilateral streak gonads. Hormone replacement therapy was then initiated for the induction of secondary female sex characteristics, as treatment for estrogen deficiency, for the induction of pubertal growth spurt and for optimization of bone mineral accumulation. Management of disorders of sexual development is challenging, thus the need for a multidisciplinary approach involving experts in endocrinology, gynecology, psychology and genetics.
GONADAL DYSGENESIS, MIXED ; MOSAICISM ; TURNER SYNDROME ; CASTRATION

45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable. Hormonal profile was consistent with primary ovarian insufficiency and human chorionic gonadotropin (hCG) stimulation did not show evidence of active testicular tissue. Karyotyping studies by G-banding revealed a 45,X/46,XY karyotype. She was diagnosed with mosaic Turner syndrome with Y chromosomal material and investigation was performed to identify the presence of male gonads due to the risk of gonadal malignancy. Magnetic resonance imaging (MRI) of the pelvis did not show evidence of gonads. Laparoscopic exploration was proposed but the patient and parents refused opting for conservative management. This case highlights the challenges in the management of this rare condition.
Gonadal Dysgenesis, Mixed ; Turner Syndrome ; Y Chromosome

No abstract available.
Gonadal Dysgenesis, 46,XY*

Gonadal Dysgenesis, 46,XY ; Gonadal Dysgenesis

No abstract available.
Gonadal Dysgenesis, Mixed*

No abstract available.
Gonadal Dysgenesis, Mixed*

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

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

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

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