Topics Discussed: ambiguous genitalia; congenital adrenal hyperplasia; dysgenetic gonads; female pseudohermaphroditism; genetics and dysmorphology; male pseudohermaphroditism; pseudohermaphroditism; sexual development; urology and nephrology; vacterl syndrome.
Excerpt:"I. Definition. Ambiguous genitalia are present when the sex of an infant is not readily apparent after examination of the external genitalia. If the appearance resembles neither a male with a normal phallus and palpable testes nor a female with an unfused vaginal orifice and absence of an enlarged phallic structure, the genitalia are ambiguous and investigation before gender assignment is indicated. Recent trend has been to refer to these disorders as disorders of sex development because many of the other terms used are considered pejorative by some patients and professionals. New definitions and classifications are also being proposed in this already very complex area. For the purpose of this on-call manual, the embryology and pathophysiology are reviewed as relevant to the initial evaluation and treatment of patients in the neonatal period.
II. Incidence. The quoted incidence of ambiguous genitalia varies according to source and is likely somewhat variable for different ethnic groups; it appears to be approximately 1 in 5000. Congenital adrenal hyperplasia is often considered the most common cause with an incidence quoted from 1 in 14,000 to 1 in 28,000; followed by androgen insensitivity and mixed gonadal dysgenesis. Hypospadias has a frequency of about 1 in 300 births, but only a minority of these patients has a disorder of sex development (usually presenting with hypospadias in combination with cryptorchidism).
III. Embryology. The early fetus,..."
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