Gonadal Dysgenesis Karyotype Gonad GenitaliaClinical/Notes/Treatment Turner's Syndrome 45XO or variant streaks femalesexual infantalism, short stature, primary amenorrhoea, various inconstant physical features Klinefelter's Syndrome XXY seminiferous tubule dysgenesis malesmall 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 malevariable internal and external organs, phallus, bifid scrotum, hypospadias. Surgery according to sex of rearing. Mixed gonadal dysgenesis mosaic (XO/XY) streak + UDT ambig. or femaleshort stature, mixed internal organs. Rear as female. Gonadectomy for cancer risk and virilisation.
Pure gonadal dysgenesis
46XY
46XX
streak
streak
female
femalevariable 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.