Endocrine Abstracts

Turner’s syndrome (TS) results from a genetic abnormality in phenotypical female individuals where the second X chromosome is either absent or present in a mosaic form. The most obvious consequences are short stature and primary amenorrhoea, although there are often dysmorphic features as well as cardiovascular and genitourinary complications. 90% of TS patients experience primary amenorrhoea with subsequent infertility. Spontaneous recovery of ovarian function in patients with TS has not been previously described in the literature as per our knowledge.

We describe a 26-year-old female with mosaic TS who developed primary amenorrhoea at 21 years of age. Of note she had a history of Graves’ thyroid disease in childhood treated with a total thyroidectomy. Her serum estradiol level was undetectable and corresponding FSH level was 101 IU/L. She was started on hormone replacement therapy (HRT).

She later elected to have fertility treatment and two in-vitro fertilization (IVF) attempts, using donated eggs from her sister, were unsuccessful. During her second IVF attempt she was noted to have some underlying ovarian activity. She was thus advised to stop her HRT. Her AMH was detectable at 8.3 pmol/l and she subsequently had 2 menstrual cycles, the last one being ovulatory with day 21 progesterone level of 113 nmol/l. She later conceived naturally.

Although her previously-documented ovarian insufficiency was ascribed to TS, her past history of autoimmune Graves’ thyroid disease may explain a propensity to autoimmune ovarian insufficiency, which unlike that arising directly from TS, is known to remit and relapse. In TS patients with ovarian insufficiency and other underlying autoimmune diseases, consideration should be given to possible recovery of ovarian function prior to attempting fertility treatment due to the possibility of autoimmune ovarian insufficiency being a confounding aetiology.