Abstract
Three patients are described with 46XX genotype, pseudohermaphroditism, a cloaca, and preserved renal function. Endocrinological causes of the phallic enlargement and labial fusion were absent. The increasing number of reports of this constellation of abnormalities is suggestive of a syndrome where embryogenesis is independent of hormonal status. Masculinisation of the external genitalia appears to be secondary to a fundamental derangement of urogenital development. An early anomaly well before sexual differentiation might prevent the genitalia from acquiring their normal, androgen-dependent growth controls, allowing the genital tubercle and genital folds to develop autonomously.
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