Download pseudohermaphroditism

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