Turner's syndrome mosaicism 45X/47XXX: An interesting natural history

Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the c ases previously described were characterized by a variable phenotype expres sion. We here report the case of a 33-yr-old woman with recent secondary am enorrhea, weight loss and breast regression. Her menarche had occurred at t he age of 11 yr and 6 months and her menstrual cycles had been regular unti l the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound - which revealed norma l volume of the ovaries - and hormonal assays including FSH (69 UI/I), LH ( 113 UI/I), 17 beta -estradiol (88 pg/ml), plasma androgens and cortisol lev els within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 14 5 cm and her weight 45 kg. She had normal female external genitalia, abnorm al upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4(th) metacarpi, hallux with latera l deviation and moderate scoliosis. No increase in ovarian steroids were fo und after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyoty pe analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chro nic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney a bnormalities were found. A neuro-psychological evaluation revealed emotiona l and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. 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 diff erent 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. (C) 2001, Editrice Kurtis.