DISORDERS OF SEXUAL DEVELOPMENT MZ ZAMANPOUR MD Differentiation

DISORDERS OF SEXUAL DEVELOPMENT MZ. ZAMANPOUR MD

Differentiation of male and female external genitalia as proceeding from a common embryonic anlage Testosterone acts at 9 to 13 weeks of gestation to virilize the bipotential anlage. In the absence of testosterone action, the female phenotype develops

A diagrammatic scheme of male sex determination and differentiation. SRY is the master gene controlling male sex differentiation, but there are many other genes and their products that control male and female sexual differentiation. DHT, Dihydrotestosterone; SRY, the gene for the testisdetermining factor

The terms intersex, hermaphroditism, and pseudohermaphroditism are not useful

46, XX Disorders of Sexual Development The terms intersex, hermaphroditism, and pseudohermaphroditism are not useful

46, XY Disorders of Sexual Development

Sex Chromosome and Ovotesticular Disorders of Sexual Development chromosome DSD Turner syndrome Klinefelter syndrome Mixed gonadal dysgenesis (45, X; 46, XY) genitalambiguity, asymmetric external genitalia, and inguinal hernias ovotesticular DSD

atypical genitalia ovotesticular disorder of sexual development (A) and congenital virilizing adrenal hyperplasia (B-E)

5α-Reductase deficiency

Partial androgen insensitivity

Partial androgen insensitivity syndrome at adolescence, male sex of rearing