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PubMed1978

Incomplete testicular feminization with multiple congenital abnormalities.

A female infant presented with absent vagina and uterus, absent left kidney, absent right gonad, growth failure, mental retardation, seizure disorder, and facial, limb, and hand anomalies. The chromosome karyotype was 46, XY in her blood and cultured cells, including cells from the sites of both gonads. Her H-Y antigen was positive. Specific dihydrotestosterone binding was reduced in cells from a labial skin biopsy. The case might be due to a minute deletion of the short arm of the X chromosome, resulting in loss of a gene for androgen receptors and of adjacent chromosomal material responsible for the growth failure and the somatic and neurologic anomalies.

Abnormalities, Multiple↗
PubMed1984

[Malignant degeneration in testicular feminization. Apropos of a case].

The authors describe the main therapeutic features found in a case of testicular feminisation that became malignant. Bilateral gonadal ablation should be carried out after puberty for fear of malignancy. When cancer occurs treatment is best decided on the grounds of extension to the lymph nodes and the histological findings in the tumour. Where there is no extension to the lymph nodes, surgery should be carried out on the gonads with radiotherapy to the lymph nodes. If the tumour is not clearly a seminoma the lymph nodes should be removed before radiotherapy is started.

Adult↗