Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report.

Mixed gonadal dysgenesis (MGD) is a disorder of sex development caused by mosaicism of the Y chromosome, represented by 45,X/46,XY. Prophylactic gonadectomy is recommended as soon as possible after its diagnosis, owing to a high risk of malignancy. In the present case, a 21-year-old woman presented with primary amenorrhea. Although the patient's external genitalia were female, the patient exhibited a hypoplastic uterus, wherein the ovaries were difficult to identify. The patient's height was 146 cm; they had cubitus valgus and webbing of the neck, leading to the consideration of a disorder of sex development. Chromosomal examination revealed 45,X/46,XY mosaicism. Thus, the patient was diagnosed with MGD. After thorough counseling, laparoscopic bilateral gonadectomy was performed. Pathological examination revealed a gonadoblastoma of the left gonad. Postoperatively, the patient had no recurrence and continued on Kaufmann therapy. In conclusion, prophylactic gonadectomy is recommended immediately following a diagnosis of MGD; however, the timing of the surgery should be carefully considered and adequate counseling should be conducted by a multidisciplinary team.

Seminoma in a 46, XY patient with 17α-hydroxylase deficiency.

Introduction: 17α-Hydroxylase deficiency is a very rare disease reported to be associated with a risk of gonadal malignancy. We herein report a rare case of seminoma in a 46, XY patient with 17α-hydroxylase deficiency. Case presentation: A 52-year-old woman presented with a 9-cm pelvic tumor. At age 14, she had been identified as having the XY karyotype and 17α-hydroxylase deficiency. However, she was not informed and did not consult the urology department. Laparoscopic gonadectomy was performed at the latest consultation, and seminoma was diagnosed. Conclusion: This is the third reported case of testicular tumor and the first of germ cell tumor in a 46, XY patient with 17α-hydroxylase deficiency. Given the rarity and the risk of gonadal malignancy associated with 17α-hydroxylase deficiency, the involvement of multidisciplinary specialists and prophylactic gonadectomy is considered crucial in its management.

A Case Report of Turner Syndrome Diagnosed at Age 61 Years.

Here, we describe a case of Turner syndrome first diagnosed at 61 years of age. The patient's chief complaint was general edema. A cardiologist was consulted, who performed echocardiogram and coronary heart computed tomography. Chromosomal analysis yielded inconclusive results for Turner syndrome. The patient's karyotype was 45,X[17]/46,X,psu idic(Y)(q11.23), and she was referred to a gynecologist a time span. The patient was nulliparous with no history of sexual contact. We performed a prophylactic gonadectomy, but no malignancy was detected pathologically.

A Case Report on Ambiguous Genitalia: A Diagnostic, Therapeutic, and Cosmetic Challenge.

Ambiguous genitalia is a matter of concern and needs thorough evaluation and treatment. Gonadectomy becomes a potentially lifesaving procedure in patients with partial androgen insensitivity due to the increased risk of malignancy if left undiagnosed. We present a case report of two patients in their late 20s and 30s, raised as girls, who came with complaints of primary amenorrhea with ambiguous genitalia. Both patients had features of masculinization. Her MRI revealed an absent uterus, cervix, upper 2/3 of the vagina, and ovaries, with the presence of bilateral testicles. She was diagnosed with partial androgen insensitivity syndrome. The first patient underwent bilateral gonadectomy with hernia repair and nerve-sparing reduction clitoroplasty with labioplasty. She is under close follow-up with a further plan for augmentation mammoplasty. The second patient, however, refused clitoroplasty and underwent bilateral gonadectomy. Androgen insensitivity syndrome is an X-linked inheritance with a mutation in the AR gene. It consists of a spectrum of conditions ranging from complete insensitivity to less insensitivity towards testosterone, which results in a complete, partial, and mild form of androgen insensitivity syndrome. Studies have been done on cosmetic outcomes after genitoplasty in children with genital atypicalities, which showed significant improvement (p<0.001) and no difference in ratings by parents and surgeons. Surgeries done on patients with partial androgen insensitivity syndrome are not only lifesaving procedures, but with reasonable reassurance, these aesthetic surgeries help people live a life that otherwise would have been genetically compromised.

Gonadal tumor and malignancy in 118 patients with disorders of sex development with Y chromosome.

OBJECTIVE: To provide more information about tumor prevalence and malignant transformation among patients with disorders of sex development (DSD) for further guidance in prophylactic gonadectomies and surveillance. METHODS: SPSS software (version 20.0) was used for all statistical analyses. RESULTS: Phenotypically female DSD patients with a Y chromosome have a higher risk of gonadal malignancy. CONCLUSION: Bilateral gonadal resection is recommended as soon as diagnosis is made for phenotypically female patients with disorders of sex development with a Y chromosome.

Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype.

Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development. This is likely due in part to the high prevalence of a normal 46,XX karyotype in these patients. However, disorders of sex development represent a broad phenotypic spectrum, and often patients cannot be neatly categorized with a single diagnosis. We report an atypical case of ovotesticular disorder of sex development in a child with ambiguous genitalia and 45,X/46,XY mosaic karyotype. Prophylactic bilateral gonadectomy was performed at age 14 months.

45,X mosaicism with Y chromosome presenting female phenotype.

Prophylactic gonadectomy is recommended in patients with 45,X mosaicism with the Y chromosome and presenting a female phenotype because of the risk of gonadoblastoma development. The characteristics of this disorder remain unclear because of its low incidence. We report 4 patients with 45,X mosaicism with the Y chromosome and presenting complete female external genitalia. We analyzed the characteristics and the macroscopic and histopathological findings of their gonads and performed hormonal assays of the 4 patients. All 4 patients were referred to us with short stature as the chief complaint. Chromosomal studies revealed 45,X/47,XYY in 1, and the others had a 45,X/46,XY karyotype. Three patients (6 gonads) underwent laparoscopic bilateral gonadectomy. The macroscopic appearance of gonads of 1 patient was similar to an ovary, whereas gonads of the rest appeared as streak gonads. The histopathological findings revealed bilateral gonadoblastoma in 1 patient, although the macroscopic findings did not show tumor characteristics. It is impossible to distinguish the histopathological findings of gonads according to their macroscopic appearance among patients with 45,X mosaicism with the Y chromosome and presenting a female phenotype.