Gonadal Dysgenesis
Karyotype
Gonad
Genitalia
Clinical/Notes/Treatment
Turner's Syndrome
45XO or variant
streaks
female
sexual infantalism, short stature, primary amenorrhoea, various inconstant physical features
Klinefelter's Syndrome
XXY
seminiferous tubule dysgenesis
male
small firm testes, apermic, tall (long legs), gynaecomastia in 50%, may have mental and emotional difficulties
True hermaphroditism
46XX, 46XY or mosaic
ovary, testis or ovotestis
ambig. or male
variable internal and external organs, phallus, bifid scrotum, hypospadias. Surgery according to sex of rearing.
Mixed gonadal dysgenesis
mosaic (XO/XY)
streak + UDT
ambig. or female
short stature, mixed internal organs. Rear as female. Gonadectomy for cancer risk and virilisation.

Pure gonadal dysgenesis

46XY

 

46XX


streak

 

streak


female



female

variable clitoral hypertrophy, failure of sexual development, primary amenorrhoea, gonadal cancer risk.

no clitoral hypertrophy, no gonadal cancer risk.

46XX Male
46XX
testes
male or ambig.
infertility, hypospadias, UDT, short stature. Genital surgery needed. Rare.