DISORDERS OF SEXUAL

DEVELOPMENT
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 testis-
determining 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