ABSTRACT
We report a 16-year-old phenotypic female with 46,XY complete gonadal dysgenesis and metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC) commercial genetic testing. This case underscores the importance of timely interdisciplinary care, including psychosocial intervention and consideration of gonadectomy, to optimize outcomes for individuals with differences of sex development. Her unique presentation highlights the implications of DTC genetic testing in a new diagnostic era and informs general pediatricians as well as specialists of nongenetic services about the value, capabilities, and limitations of DTC testing.
Subject(s)
Direct-to-Consumer Advertising , Dysgerminoma/secondary , Genetic Testing/methods , Gonadal Dysgenesis, 46,XY/diagnosis , Gonadoblastoma/secondary , Ovarian Neoplasms/pathology , Adolescent , Biomarkers, Tumor/blood , Dysgerminoma/blood , Dysgerminoma/diagnostic imaging , Dysgerminoma/genetics , Female , Gender Identity , Genes, sry/genetics , Gonadal Dysgenesis, 46,XY/blood , Gonadoblastoma/blood , Gonadoblastoma/diagnostic imaging , Gonadoblastoma/genetics , Humans , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/secondary , Ovarian Neoplasms/diagnostic imaging , PhenotypeABSTRACT
OBJECTIVE: To describe a case of 45,X/46,XY mixed gonadal dysgenesis complicated by malignancy with possible metastasis. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 15-year-old female with primary amenorrhea, short stature, and a vaginal septum. INTERVENTION(S): Resection of transverse vaginal septum and laparoscopic bilateral gonadectomy. RESULT(S): The patient had dysgerminoma arising from gonadoblastoma in the left gonad and gonadoblastoma in the right gonad. No normal gonadal tissue could be identified. Postoperative computed tomography scan results were suspicious for lung metastases, but the patient opted for conservative management without chemotherapy. CONCLUSION(S): Mixed gonadal dysgenesis involves inherent malignancy risk and complex psychosocial issues, which necessitate a multidisciplinary approach to diagnosis and treatment.
Subject(s)
Dysgerminoma , Gonadal Dysgenesis, Mixed/complications , Lung Neoplasms , Ovarian Neoplasms , Adolescent , Antineoplastic Agents , Dysgerminoma/complications , Dysgerminoma/drug therapy , Dysgerminoma/secondary , Female , Gonadoblastoma/complications , Gonadoblastoma/drug therapy , Gonadoblastoma/secondary , Humans , Lung Neoplasms/complications , Lung Neoplasms/drug therapy , Lung Neoplasms/secondary , Ovarian Neoplasms/complications , Ovarian Neoplasms/drug therapy , Ovarian Neoplasms/pathology , Treatment RefusalABSTRACT
We present a case report of a 16-year-old, phenotypic female with bilateral dysgerminomas, a unilateral gonadoblastoma, and a peritoneal metastasis. The patient's constitutional karyotype was 46,XY. The chromosomal copy number, examined by the comparative genomic hybridization technique, showed 3 gains in the dysgerminoma of the right ovary, 6 gains in the dysgerminoma of the left ovary, and 2 gains and 1 loss in the gonadoblastoma of the left ovary. The metastasis showed 5 gains of which 4 were also observed in the dysgerminoma of the left ovary. The DNA ploidy classifications of the gonadoblastoma and the dysgerminoma in the right ovary were tetraploid, whereas the dysgerminoma in the left ovary and the metastasis were aneuploid. We therefore propose that the metastasis most probably developed from the dysgerminoma of the left ovary.
