No abstract available.
Gonadal Dysgenesis, Mixed*

No abstract available.
Gonadal Dysgenesis, Mixed*

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

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

The authors have experienced a case of mixed gonadal dysgenesis who had a testis on the left side and a streak gonad on the right side with a karyotype of 45,XO/46,XY mosaicism. Bilateral gonadectomy and feminizing genitoplasty were performed for this neonate.
Gonadal Dysgenesis, Mixed* ; Gonads ; Humans ; Infant, Newborn* ; Karyotype ; Mosaicism ; Testis

PURPOSE: We investigated the clinical characteristics and relationship between chromosome and its phenotypic expression in patients with 45 XO/46XY mosaicism or 45 XO with SRY gene. MATERIALS AND METHODS: 11 patients with 45XO/46XY chromosomal abnormality and 4 patients with 45XO with SRY positive reaction admitted from 1990 to 1996 were evaluated. Patients were grouped according to chromosome and gonadal expression. Group A consisted of patients with 45XO/46XY chromosome and unilateral streak gonad, group B patients with 45XO chromosome, SRY positive reaction and unilateral streak gonad and group C patients with 45XO/46XY chromosome and bilateral streak gonads. RESULTS: Of the total 15 patients, the number of patients in group A, B, and C were 8, 4, and 3, respectively. SRY gene was positive in all group A and B patients but only one patient was positive in group C. Of the 8 patients in group A, 5 patients had a high XY mosaicism ratio compared to XO whereas an equal ratio was observed in the remaining 3 patients. Of the 4 male penotype patients only 1 patient had a high XY mosaicism ratio compared to XO while 3 patients displayed an equal ratio. There was no difference in associated anomaly and the degree of severity of ambiguity according to the mosaicism ratio in all patients. CONCLUSIONS: There was no definite correlation between the mosaicism ratio and phenotypic expression. Presence of SRY gene in 45XO patients may suggest MGD(mixed gonadal dysgenesis) and therefore, the evaluation SRY gene could be useful in the diagnosis of 45XO patients with ambiguous genitalia.
Chromosome Aberrations ; Diagnosis ; Disorders of Sex Development ; Genes, sry* ; Gonadal Dysgenesis, Mixed ; Gonads ; Humans ; Male ; Mosaicism*

An 18-year-old, G0, with primary amenorrhea consulting because of a rapidly enlarging abdominal mass was diagnosed with Swyer syndrome or 46 XY pure gonadal dysgenesis and subsequently underwent staging laparotomy for mixed germ cell tumor (dysgerminoma and yolk sac tumor) arising from her dysgenetic gonad. Bleomycin, etoposide, cisplatin regimen for three to four cycles was planned but the patient was lost to follow-up. A prompt evaluation of her amenorrhea and a timely gonadectomy could have averted the development of malignancy.

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

PURPOSE: Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The differential diagnosis of these conditions is based on karyotype and pathological findings of the gonads. This study investigated the clinical features at presentation, karyotype, sex of rearing, and pubertal outcomes of patients with ovotesticular DSD and MGD.METHODS: The study comprised 23 patients with DSD who presented with asymmetric gonads. The presenting features, karyotype, sex of rearing, and pubertal outcomes were reviewed retrospectively.RESULTS: All 23 patients presented with ambiguous genitalia at a median age of 1 month (range, 1 day–1.6 years). Müllerian duct remnants were identified in 15 of 23 patients (65.2%). Fourteen patients were diagnosed with ovotesticular DSD, whereas the other 9 were diagnosed with MGD. Eight of 14 patients (57.1%) with ovotesticular DSD were raised as males, while 7 of 9 patients with MGD (77.8%) were assigned as males. One male-assigned patient with ovotesticular DSD changed to female sex at age 20 years.CONCLUSION: Patients with ovotesticular DSD and MGD manifest overlapping clinical presentations and hormonal profiles. It is difficult to determine the sex of rearing and predict long-term pubertal outcomes. Therefore, long-term follow-up is required to monitor spontaneous puberty, sex outcome, and urological and gynecological complications.
Adolescent ; Diagnosis, Differential ; Disorders of Sex Development ; Female ; Follow-Up Studies ; Genitalia ; Gonadal Dysgenesis ; Gonadal Dysgenesis, Mixed ; Gonads ; Humans ; Karyotype ; Male ; Ovotesticular Disorders of Sex Development ; Puberty ; Retrospective Studies

Gonadoblastoma occurs almost always in association with a Y chromosome cell line, and developes in one third of patients with Mixed gonadal dysgenesis. Removing of gonads of intersex patients with the Y chromosome is very important because of the strong association of the genesis of tumor in dysgenetic gonads with the presence of a Y chromosome. But it is always possible that an XY cell line could be missed, or that a fragment from Y chromosome could have been translocated and not discovered by chromosomal analysis. PCR with Y specific probe or Southern blotting would reveal the presence of a Y or a translocated fragment. We experienced an 18-year-old woman represent with primary amenorrhea who had 45,X/46,X,+mar. Y-specific PCR revealed that the marker chromosome was drived from Y chromosome. After both gonadectomy and clitorial recession, we found the gonadoblastoma in dysgenetic testis. So we report it with brief review of literatures.
Adolescent ; Amenorrhea ; Blotting, Southern ; Cell Line ; Female ; Gonadal Dysgenesis, Mixed* ; Gonadoblastoma* ; Gonads ; Humans ; Polymerase Chain Reaction ; Testis ; Y Chromosome