An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the disease in this highly inbred population.
The presence of a urethra coursing through the phallus would seem to be evidence of maleness. However, certain female patients with intersexual external genitalia (female pseudohermaphrodites) have been observed either with a single urethra running through the clitoris or with this, plus a second urethra, emptying into the urogenital sinus. Recently, five cases of phallic urethra have been observed and the findings of one other unreported case has been studied. These will be presented and discussed in detail in order to point out the factors involved in differential diagnosis.The study of intersexuality would be more rewarding if it could be approached from an etiological standpoint. In any given case, however, exact etiologic factors cannot always be determined, but if consideration is given to each of the possible causes (developmental anomaly, fetal adrenal hyperplasia, and exogenous androgens) a reasonable basis can be constructed for diagnosis and treatment.Theoretically, intersexuality with a phallic urethra can occur in one of three ways :(1) by anomalous development, in which normal sequences of differentiation are blighted during early fetal life so that a combination of gross genital abnormalities occurs, among which may be a phallic urethra; (2) by fetal adrenal hyperactivity, in which the male components of the female external genitalia are stimulated to develop-
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