Disorders of sexual development
DSD
aka ambiguous genitalia
aka intersex
NEED to exclude CAH as life threatening
Groups
Ex
Dysmorphology:
Hydration: (CAH)
Blood pressure (CAH)
Skin: hyperpigmentation (CAH)
Scrotum
Midline cleft/urogenital sinus
Prader score:
0. normal female
Normal penis: >2.5cm long and > 0.9cm wide
Normal clitoris <9mm long and <6mm wide
DDx
See 5 groups above
Viralised female
- CAH: vertical enzymes 21 or 11b (3b not DSD Female, presents as delayed pub later) and horizontal STAR protein
- maternal androgen exposure
Undervirilised male
- Horizontal enzymes (STAR, 17a and 17,10 give CAH as well) and vertical 3b
Ix
First line
EUC/Glucose
Karyotype (XX, XY, XXY: Kleinfelters, XO/XY..)
Pelvic ultrasound
?
17aOH progesterone
ACTH, Cortisol, plasma renin activity, ACTH stimulation
DHEA, Androstenedione, Testosterone, Dihydrotestosterone
bHCG stimulation for Test/Dihydro, Androgen binding studies; androgen receptor gene mutation analysis
Urine steroid profile
aka ambiguous genitalia
aka intersex
NEED to exclude CAH as life threatening
Groups
- 46,XX DSD: genetic females with ambiguous or male phenotype.
- 46,XY DSD: genetic males with ambiguous or female phenotype.
- Ovotesticular DSD: usually 46,XX, genitalia usually ambiguous, gonads contain both ovarian and testicular components (aka true hermaphrodite)
- Sex chromosome aneuploidy DSD: for example, 45,X/46,XY mosaicism, with one streak gonad and one dysgenetic testis (aka mixed gonadal dysgenesis).
- Others: dysmorphic syndromes, anogenital (cloacal) malformations, bladder exstrophy etc.
- (nb premfemales can have an 'apparent' but transient unusual appearance)
Ex
Dysmorphology:
Hydration: (CAH)
Blood pressure (CAH)
Skin: hyperpigmentation (CAH)
Scrotum
- Fused no testes (XX, CAH, undervirilised XY)
- Bifid, high testes (undervirilised XY , ovotestes, or aneuploidy)
- Bifid, low testes (undervirilised XY, ovotestes)
- (can be asymetrical ie 1 descended testis and 1 undescended/ovotestes/streak gonad/ovary)
Midline cleft/urogenital sinus
Prader score:
0. normal female
- enlarged phallus
- enlarged phallus with visibly separate openings of urethra and vagina
- enlarged phallus with a single urogenital sinus opening
- enlarged phallus with hypospadias
- normal male
Normal penis: >2.5cm long and > 0.9cm wide
Normal clitoris <9mm long and <6mm wide
DDx
See 5 groups above
Viralised female
- CAH: vertical enzymes 21 or 11b (3b not DSD Female, presents as delayed pub later) and horizontal STAR protein
- maternal androgen exposure
Undervirilised male
- Horizontal enzymes (STAR, 17a and 17,10 give CAH as well) and vertical 3b
Ix
First line
EUC/Glucose
Karyotype (XX, XY, XXY: Kleinfelters, XO/XY..)
Pelvic ultrasound
?
17aOH progesterone
ACTH, Cortisol, plasma renin activity, ACTH stimulation
DHEA, Androstenedione, Testosterone, Dihydrotestosterone
bHCG stimulation for Test/Dihydro, Androgen binding studies; androgen receptor gene mutation analysis
Urine steroid profile