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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McMullin, N.D., Hutson, J.M. Female pseudohermaphroditism in children with cloacal anomalies. Pediatr Surg Int 6, 56–59 (1991). https://doi.org/10.1007/BF00174888
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DOI: https://doi.org/10.1007/BF00174888