The first type of gonadal dysgenesis discovered was Turner syndrome.
If Turner syndrome is defined as a condition where one sex chromosome is absent or abnormal, mixed gonadal dysgenesis may be interpreted as a specific variation of Turner’s.
It is the third most common cause of primary amenorrhoea after pregnancy and gonadal failure (such as from Turner syndrome).
It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial.
The first published report of a female with a 45,X karyotype was in 1959 by Dr. Charles Ford and colleagues in Harwell, Oxfordshire and Guy's Hospital in London.
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In addition, children with diseases such as Down syndrome and Turner syndrome follow distinct growth curves which deviate significantly from children without these diseases.