mosaicism 45X/47XXX

Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis.

Synopsis

 variable phenotype expression
 secondary amenorrhea
 weight loss
 breast regression

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.

References

 Turner’s syndrome mosaicism 45X/47XXX: an interesting natural history. Tauchmanovà L, Rossi R, Pulcrano M, Tarantino L, Baldi C, Lombardi G. J Endocrinol Invest. 2001 Nov;24(10):811-5. PMID: 11765052