Abstract
In a newborn (46,XX) with ambiguous genitalia and bilaterally descended gonads the presumptive diagnosis of true hermaphroditism (TH) was made using endocrinological methods and a newly developed ELISA system with monoclonal H-Y antibody. Evidence for cryptic testicular tissue was obtained by measuring male levels of testosterone in plasma (117 ng/dl). 170H progesterone levels were normal thus ruling out congenital adrenal hyperplaisa.ELISA for H-Y antigen involves the reaction of monoclonal H-Y lgG antibody (AB) and cell borne or soluble antigen (AG). After that a 2nd AB (conjugated to peroxidase enzyme) is added. The amount of color (optical density) measured in a densitometer is a function of the interaction of AB and AG and consequential reaction of perioxidase with substrate. The patient tested positive for H-Y antigen but levels were less than those found in normal males. H-Y positive phenotypes in XX TH and XX male sex reversal obtained with this technique are consistent with the notion that the two conditions are variants of the same X-linked disorder and that the morphologic difference between the two may be related to the degree of inactivation of the X chromosome bearing the mutant gene. TH was confirmed at surgery when ovotestes were found. Conclusion: H-Y testing using ELISA technology can be performed rapidly with small amounts of blood (5 ml). Thus this assay is particularly useful in the evaluation of newborn infants with ambiguous genitalia where quick diagnosis is essential.
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Simpson, A., Saenger, P., Pang, S. et al. H-Y ANTIGEN DETECTED BY ENZYME LINKED IMMUNOSORBENT ASSAY (ELISA). Pediatr Res 18 (Suppl 4), 308 (1984). https://doi.org/10.1203/00006450-198404001-01289
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DOI: https://doi.org/10.1203/00006450-198404001-01289