Endocrine Abstracts

A 14-year-old girl presented with 11 months’ history of secondary amenorrhoea and autonomic symptoms on a background of significant anxiety and lethargy. She had been taking fluoxetine 20 mg daily for 6 months to treat anxiety and low mood. Menarche occurred had aged 12 years and 5 months and her menstrual cycle had been regular prior to its cessation one year earlier. She had no significant past medical history. There was a family history of hypothyroidism. On examination, the patient had reached Tanner staging B4, P3-4, A2. She had no skin lesions, oral candidiasis, hyperpigmentation, or hirsutism. Her growth was normal for mid-parental height, along the 50^th centile for height and the 25^th centile for weight. Transabdominal pelvic ultrasound was normal. Oestradiol was <19 pmol/l (NR 45-1400), FSH 72.3units/l (NR 1.8-22.5), LH 44.4units/l (NR 1-104). This, combined with the patient’s history led to a diagnosis of primary ovarian failure (POI). Treatment with oestrogen and progesterone replacement was commenced and counselling was given regarding fertility. Random serum cortisol was 78nmol/l, leading to a synacthen test, within which the patient showed a low baseline morning serum cortisol of 28 and an absent response to synacthen (peak level 30nmol/l at 30 minutes). ACTH was 129 ng/l (NR <50). Adrenal cortex antibody was positive. The patient was therefore diagnosed with primary adrenal insufficiency and urgently commenced on maintenance hydrocortisone treatment and counselled about sick day and emergency hydrocortisone dosing. Due to the timely and full investigation of this patient’s symptoms, Addisonian crisis was fortuitously avoided. Interestingly, the patient additionally had positive anti-thyroid peroxidase (Anti-TPO) antibodies with normal thyroid function tests. It is therefore possible that this patient presents as an incomplete presentation of autoimmune polyendocrinopathy syndrome type II, with her chances of developing future thyroid disease thought to be 50%, which would complete her diagnostic profile. This case illustrates the importance of holding a broad differential for POI and illustrates the difference between the known types of autoimmune polyendocrinopathy. AIRE gene sequencing may hold diagnostic benefit in such patients, and the pathways around this are being further researched.