Wednesday 6 April 2011
Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis.
variable phenotype expression
The presence of several somatic features of Turner’s syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs.
Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.