Abstract
Female pseudohermaphrodites with virilising congenital adrenal hyperplasia (CAH) have a normal female 46XX karyotype with normal development of ovaries, uterus and upper vagina. However, the degree of virilisation of the external genitalia in utero is extremely variable, ranging from an almost normal cryptorchid male appearance to a slightly enlarged clitoris and fused labia. The most common biochemical anomaly is 21-hydroxylase deficiency, which is inherited as a recessive disorder and associated with salt loss in approximately half the patients.
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References
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Hendren WH, Crawford JD (1969) Adrenogenital syndrome: the anatomy of the anomaly and its repair. Some new concepts. J Pediatr Surg 4: 49–59
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© 1988 Springer-Verlag Berlin Heidelberg
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Whitaker, R.H. (1988). Surgery for Virilising Congenital Adrenal Hyperplasia. In: Gingell, J.C., Abrams, P.H. (eds) Controversies and Innovations in Urological Surgery. Clinical Practice in Urology. Springer, London. https://doi.org/10.1007/978-1-4471-3142-7_52
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DOI: https://doi.org/10.1007/978-1-4471-3142-7_52
Publisher Name: Springer, London
Print ISBN: 978-1-4471-3144-1
Online ISBN: 978-1-4471-3142-7
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