SEKSUAL
Penetapan
Penetapankromosom
kromosomseks
seks
Perkembangan
Perkembangangonadgonad(belum
(belum
terdifferensiasi)
terdifferensiasi)
Differensiasi
Differensiasiductus
ductusinternal
internaldan
dangenitalia
genitalia
eksternal
eksternal
PERKEMBANGAN KROMOSOM SEKS
DAX1
WT1
Sox9
Wnt4
SF1
RSPO1
FOXL2
PERKEMBANGAN NORMAL FENOTIP
PERKEMBANGAN NORMAL KELAMIN
DIFERENSIASI PSIKOSEKSUAL
Tidak
Terklasifikasikan
Kelainan
Diferensiasi
Gonad
Ovotesticular
True Hermaphroditism
DSD
Tidak
Terklasifikasikan
Kelainan
Diferensiasi
Gonad
Ovotesticular
DSD
Congenital adrenal hyperplasia
Perkembangan 46,XX DSD (21-hydroxylase, 11-hydroxylase,
Seksual (Masculinized 3-hydroxysteroic dehydrogenase
Abnormal Female) deficiencies)
Maternal androgens
Tidak
Terklasifikasikan
Kelainan Leydig cell agenesis, unresponsiveness
Diferensiasi Disorders of testosterone biosynthesis
Variants of congenital adrenal hyperplasia affecting
Gonad
corticosteroid and testosterone synthesis
StAR deficiency (congenital lipoid adrenal
hyperplasia)
Ovotesticular Cytochrome P450 oxidoreductase (POR)
DSD deficiency
3-Hydroxysteroid dehydrogenase deficiency
17-Hydroxylase deficiency
Perkembangan 46,XX DSD Disorders of testosterone biosynthesis:
Seksual 17,20-Lyase deficiency
(Masculinized 17-Hydroxysteroid oxidoreductase
Abnormal Female) deficiency
Disorders of androgen-dependent target tissue
Androgen receptor and postreceptor defects
46, XY, DSD Syndrome of complete (severe) androgen
(Undermasculini insensitivity
Syndrome of partial androgen insensitivity
zed Male) Mild androgen insensitivity syndrome (MAIS)
Disorders of testosterone metabolism by peripheral
tissues
5-Reductase deficiency
Tidak Disorders of synthesis, secretion, or
Terklasifikasikan response to mullerian inhibiting substance
Persistent mullerian duct syndrome
Kelainan
Diferensiasi
Gonad
Ovotesticular
DSD
Tidak Mayer-Rokitansky-Kuster-
Terklasifikasikan Hauser syndrome
CONGENITAL
ADRENAL
HYPERPLASIA
Congenital Adrenal Hypertrophy
XX CAH newborn females with masculinized genitalia
Androgen Insensitivity Syndrome
ANDROGEN RECEPTOR & POST-RECEPTOR DEFECTS
urogenital sinus with separate urethral and clitoromegaly with marked labioscrotal
vaginal openings, and posterior labioscrotal fusion and small vaginal introitus
fusion
KLINEFELTER'S SYNDROME
TURNERS SYNDROME (45,XO)
Webbed neck
Short stature
(b) The
urethral plate and urethra are
completely dissected
from the clitoral corporal
bodies.
tubularization
urethroplasty performed (d).
The new urethra is brought to the top of
the glans using the glans-groove
technique. The penile body
the scrotum constructed
is reconstructed using the remaining using labia majora flaps
clitoral skin and labia minora flaps
TERIMA KASIH