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mosaicism 45X/47XXX

Wednesday 6 April 2011

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


- 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.


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