560 STUDIES OF H-Y ANTIGEN IN A 46, XYp- PHENOTYPIC FEMALE WITH TURNER STIGMATA AND UNDIFFERENTIATED GONADS

Abstract

H-Y antigen is believed to be the product of testis-determining gene(s) on the Y chromosome. A case of 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants on the Y chromosome. At birth, the infant had lymphedema of the extremities, increased nuchal skin folds and normal female external genitalia. Q and C banding of peripheral leukocytes demonstrated a 46,XYp- karyotype. Laparotomy demonstrated bilateral 1.5cm gonads with normal uterus and tubes. Gonadal sections revealed fibrous stroma with focal aggregations of undifferentiated cells arranged in cords or clusters. At 8 years she is a phenotypic female with height in the 25th %, multiple stigmata of Turner Syndrome and elevated gonadotropins. H-Y phenotype assignment is based on ability of test cells to adsorb H-Y antibodies from mouse H-Y antisera, which are then reacted with mouse sperm. Skin fibroblasts of the patient failed to adsorb H-Y antibodies; her peripheral leukocytes adsorbed considerably less than her father's. She was thus typed H-Y^±, a phenotype consistent with a deletion model in which a majority of H-Y gene copies has been lost. Demonstration of the structural deletion of the Y chromosome supports the hypothesis that loci exist on the short arm of the Y which determine H-Y antigen, testicular differentiation of the primitive gonad and suppression of somatic stigmata of Turner Syndrome.

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