Endocrine Abstracts

Case history: FK is an 18 year old female, who attended the Turner’s syndrome clinic in our tertiary centre with primary amenorrhoea. Her family are originally from Ghana but she was born in Italy and lived there until moving to the UK in 2016. She was born full-term by normal delivery and Turner’s syndrome was diagnosed at 3 months of age due to characteristic phenotypic features. She was managed by the paediatric endocrinologists in Italy and was on growth hormone injections for around 10 years until it was stopped at age 16. She was on the Evorel 25 patch whilst in Italy for a few years and had 1 episode of slight spotting at age 14 years. There has been no further menstrual bleeds. Since coming to the UK, she did not received any further hormonal treatment, until her first appointment in the Turner’s syndrome clinic when she was started on Ethinylestradiol. She has not had any menstrual bleed since this was commenced 4 months ago. She has no other developmental issues or past medical history. She was doing a Diploma in Childcare in college. Drug history: Ethinylestradiol 10 mcg OD, Cholecalciferol 800 IU OD. On examination: height 147.5 cm, weight 60 kg, BP 120/78. No webbed neck or swollen hands or feet.

Investigations: TSH: 1.11 mU/l (NR 0.27–4.2); Free T4: 17.0 pmol/l (NR 9.0–26.0); TPO antibodies: 9; FSH: 55 IU/l (postmenopausal 26–135); LH: 11 (postmenopausal 8–58); Fasting blood glucose: 4.4 mmol/l. 25-hydroxy vitamin D: 29 nmol/l; USS pelvis: Both kidneys appear normal in sizes and echogenicity. Normal sized anteverted uterus, endometrial thickness 1 mm. Echo: Bicuspid AV with no stenosis or regurgitation detected. Non-dilated aorta with no evidence of coarctation seen. Audiology: Seen by ENT, reports normal.

Treatment: Since she did not have a menstrual bleed with ethinylestradiol 10 mcg, we increased the dose to 20 mcg OD. During telephone review 4 weeks later, this had resulted in 2 occasions of breakthrough bleeding. Therefore a note was sent to her GP to prescribe Norethisterone 5 mg BD for 5 days for endometrial protection. During her next clinic appointment, we plan to discuss with her about starting the combined oestrogen-progesterone pill or patch.

Conclusions and points for discussion: This is a useful case to highlight the optimal sex steroid replacement in a girl with Turner’s syndrome, primary amenorrhoea and premature ovarian insufficiency, who has attained final height.