Endocrine Abstracts

A 17 year-old female was referred to Endocrinology with primary amenorrhoea and arrested puberty (B4 PH4 AH2). She reported breast development in line with her peer group and had experienced a single “show” of vaginal spotting aged 15 years. Although guidelines recommend baseline pelvic USS in the investigation of primary amenorrhoea, it generally only adds value in females with high LH+FSH and abnormal karyotype; indeed, it may raise undue concerns of uterine (Mullerian) agenesis when the prepubertal uterus is too small to be visualised¹, and a recent review has explicitly discouraged this practice². However, in this case, baseline USS was useful in guiding us to the diagnosis of 46XX gonadal dysgenesis, whereas the history and Tanner staging had initially led us to consider premature ovarian insufficiency instead. Given her breast development was satisfactory, the usual target of classical pubertal induction through incremental Estradiol therapy could be set aside; instead, the aim was to optimise uterine development to maximise her chances of successful egg-donation-parenthood in later life. Over a period of 4 years, her Estradiol dose was progressively increased from 0.5 mg alternate days to 3 mg daily, with serum oestradiol rising accordingly. As of the latest visit, she is close to fulfilling our criteria for the introduction of a progestogen, in that she has full breast development, her uterus has a mature configuration, with dimensions close to the median for nulliparous emgonadal females and thickening endometrium, along with a satisfactory oestradiol level. She has not yet experienced any bleeding and the endometrium is not excessively thickened so we plan to continue Estradiol monotherapy until this occurs, or there is no further increment in uterine dimensions on USS.