Biomaterial Database

Dysgerminoma, gonadoblastoma, and testicular germ cell neoplasia in phenotypically female and male siblings with 46 XY genotype. 1987

A C Kingsbury, and F Frost, and W O Cookson

46 XY gonadal dysgenesis is a syndrome characterized by a female phenotype with streak gonads and complicated by the frequent occurrence of germ cell tumors. The syndrome and the risk of malignant disease occur in female siblings sharing the XY genotype, and screening of female siblings and prophylactic gonadectomy in those affected is generally recommended. A family of four siblings is described in which two phenotypically female XY children and one male each have developed germ cell tumors, demonstrating that brothers of affected sisters may also be at risk.

UI	MeSH Term	Description	Entries
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D010051	Ovarian Neoplasms	Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.	Cancer of Ovary,Ovarian Cancer,Cancer of the Ovary,Neoplasms, Ovarian,Ovary Cancer,Ovary Neoplasms,Cancer, Ovarian,Cancer, Ovary,Cancers, Ovarian,Cancers, Ovary,Neoplasm, Ovarian,Neoplasm, Ovary,Neoplasms, Ovary,Ovarian Cancers,Ovarian Neoplasm,Ovary Cancers,Ovary Neoplasm
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004407	Dysgerminoma	A malignant ovarian neoplasm, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. It is the counterpart of the classical seminoma of the testis, to which it is both grossly and histologically identical. Dysgerminomas comprise 16% of all germ cell tumors but are rare before the age of 10, although nearly 50% occur before the age of 20. They are generally considered of low-grade malignancy but may spread if the tumor extends through its capsule and involves lymph nodes or blood vessels. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1646)	Disgerminoma,Disgerminomas,Dysgerminomas
D005260	Female		Females
D005838	Genotype	The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.	Genogroup,Genogroups,Genotypes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013736	Testicular Neoplasms	Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms.	Cancer of Testis,Cancer of the Testes,Testicular Cancer,Testicular Neoplasm,Testicular Tumor,Testis Cancer,Cancer of the Testis,Neoplasms, Testicular,Neoplasms, Testis,Testicular Tumors,Testis Neoplasms,Tumor of Rete Testis,Cancer, Testicular,Cancer, Testis,Cancers, Testicular,Cancers, Testis,Neoplasm, Testicular,Neoplasm, Testis,Rete Testis Tumor,Rete Testis Tumors,Testicular Cancers,Testis Cancers,Testis Neoplasm,Testis Tumor, Rete,Testis Tumors, Rete,Tumor, Testicular,Tumors, Testicular