Adenomyosis in a patient with mosaic Turner's syndrome.

BACKGROUND: Adenomyosis typically affects multiparous women be- tween the ages of 35 and 50, who present with painful irregular periods or excessive menstrual bleeding. Few case reports describing endometriosis in patients with gonadal dysgenesis have been published, but none has reported the presence of adenomyosis in a patient with Turner's syndrome. CASE: A 31-year-old woman with mosaic Turner's Syndrome was referred to us because of severe iron deficiency anaemia due to hypermenorrhea and persistent lower abdominal pain for more than six months. The karyotype analysis on peripheral blood lymphocytes confirmed the mosaic Turner’s syndrome: 45,X (96% cells), 46,XX (2% cells) and 47,XXX (2% cells). She presented normal secondary sex development, normal breast, normal pubic and axillary hair. The external genitalia were also normal. Laboratory examination showed normal gonadotropin, 17beta-estradiol, plasma androgens and cortisol levels. At transabdominal ultrasound a myoma (15 x 8.5 x 8 cm) arising from the posterior uterine wall was suspected. The mass was removed during laparotomy. Histologic examination confirmed the presence of the myoma and revealed the presence of focal adenomyosis: a circumscribed nodular aggregate of endometrium-like tissues containing both surface epithelium and stroma was detected as deep as one-third of the total myometrial thickness. CONCLUSION: Adenomyosis and leiomyomata are separate entities but they share a common pathology in that they develop primarily in women of reproductive age and their growth is oestrogen dependent. To our knowledge, this is the first case report in the literature of adenomyosis in a woman who had the Turner's syndrome.