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What is Pure gonadal dysgenesis will be diagnosed in the presence of: and explain in detail?
In pure gonadal dysgenesis
• Gonads are bilateral ‘streaks’ without any potentiality to produce hormones.
• The vagina, uterus, and tubes are present although infantile.
• The uterus is, however, sensitive to exogenous estrogen.
• As these patients have got no gonads, a female phenotype is expected regardless of the chromosomal complement.
• Karyotype is either 46, XX or 46, XY.
• Sex chromatin is doubtful.
Note:
• The genes which protect against the physical malformations of Turner Syndrome are carried on short arms of XX or XYchromosomes and genes which protect against streak gonads are on the long arms of XX or XY.