Turner’s syndrome is one of the most common chromosomal abnormalities affecting 1 in 2500 live births. Short stature and gonadal dysgenesis are known as the hallmarks of the syndrome since Henry Turner described the original cases in the late 1930s. Although the majority of these patients have streak ovaries as a result of stromal fibrosis, the uterus is intact, albeit with atrophic endometrium due to the hypoestrogenic state.
We report a case of a 17 year-old girl who presented with primary amenorrhoea, short stature and phenotypic features of Turner’s syndrome. Biochemical tests confirmed primary ovarian failure (oestradiol <44 pmol/l, FSH 78 IU/l) and the karyotype was consistent with Turner’s syndrome (45 XO, 46X idic(X) mosaic). In addition, however, an ultrasound scan of the reproductive tract failed to identify any uterine tissue or ovaries, and further pelvic imaging with MRI scanning only demonstrated atrophic vagina with no visible uterus.
The combination of Turner’s syndrome and an absent uterus has never been previously reported in the literature. This has significant implications for future fertility potential as it precludes ovum donation, which is currently the only option for fertility in women with gonadal dysgenesis. The patient and her family were informed of this unusual finding and she was started on oestrogen replacement therapy with incremental doses of ethinylestradiol.
Because of the extremely unusual nature of her clinical findings a repeat pelvic MRI scan was performed following six months of oestrogen replacement therapy. To our surprise the repeat MRI scan revealed a 4.5 cms long atrophic uterus. Review of the original scans still failed to reveal any visible uterine tissue. This case illustrates that the finding of an absent uterus on ultrasound or MRI should be interpreted with caution in women with oestrogen deficiency due to gonadal dysgenesis. Further imaging after a period of oestrogen replacement is recommended if initial scans fail to identify any uterine tissue.