Title: PRESENCE OF THE SRY GENE IN DISORDERS OF SEXUAL DIFFERENTIATION
Abstract: Identification of Y chromosomal material is important in individuals wilh disorders of sexual differentiation because 1) an increased risk for gonadal neoplasms exists and 2) insight into the process of sexual differentiation may be augmented. To better understand the role of SRY in disorders of sexual differentiation, tissues from 4 individuals were assessed by SRY specific PCR and Southern blotting with an SRY probe. Key: TH=true hermaphroditisrn, MGD=mixed gonadal dysgenesis, ot=ovotestis, os=ovarian stroma, NA=not available, PBL=peripheral blood leukocyte The sensitivity of this probe which can easily detect 1:10,000 cells indicates that mosaictsrn for the SRY portion of the Y chromosome has occurred in patients 1 & 3. For patients with Turner's syndrome, addilional investigation of such patients is needed to determine the frequency of this mosaicism. For patient 3, the finding of SRY gene correlates with the observed testicular differentiation and virilization. For patient 2, further evaluation of the function of SRY and additional genes involved in sexual differentiation is necessary.