RT Journal Article SR Electronic T1 Carbamazepine drug effect simulating biochemical central hypothyroidism in a patient with Bardet-Biedl syndrome JF BMJ Case Reports JO BMJ Case Reports FD BMJ Publishing Group Ltd SP e245018 DO 10.1136/bcr-2021-245018 VO 14 IS 9 A1 David Kishlyansky A1 Gregory Kline YR 2021 UL http://casereports.bmj.com/content/14/9/e245018.abstract AB Carbamazepine (CBZ) is a medication used commonly in epilepsy. Decreases in free T4 levels simulating central hypothyroidism have been reported, although the clinical significance is still unclear. We present a 24-year-old man with Bardet-Biedl syndrome (BBS) who was found to have isolated biochemical central hypothyroidism. BBS is a ciliopathy occasionally associated with anterior pituitary dysfunction. While taking CBZ for epilepsy, his TSH was 1.73 mIU/L (reference range: 0.20–4.00 mIU/L) with a low free T4 of 6.6 pmol/L (reference range: 10.0–26.0 pmol/L). Pituitary MRI was normal. Although treated with levothyroxine initially, his apparent biochemical central hypothyroidism was later recognised as secondary to CBZ drug effect. This was confirmed with a normal free T4 of 12.2 pmol/L while he was off CBZ and levothyroxine. Despite the association between CBZ and biochemical central hypothyroidism, nearly all patients remain clinically euthyroid. This effect is reversible and recognition could lead to reductions in unnecessary thyroid replacement therapy if CBZ is discontinued.