Endocrine Abstracts

28-year-old pregnant female had been followed with serial scan and thyroid function tests with concern of foetal goitre. She had a previous stillbirth at term where a goitre was found at post-mortem and cause of death was hypothesized to be high output cardiac failure secondary to thyrotoxicosis. Mother’s thyroid function and thyroid antibodies were negative throughout pregnancy. Baby girl was born at 33 weeks by Caesarean Section with a birth weight of 1.785 kg She had a small goitre and needed CPAP for 24 hrs. Her initial thyroid function test on day 2 of life showed TSH >150 mU/L and T4 8 pmol/l. She was started on Levothyroxine 25 μg daily which had to be reduced gradually to 12.5 mg alternate days by day 21 due to persistent high T4. Her Anti-TPO antibodies and TSH receptor antibodies were negative, Neck USS showed slightly bulky thyroid gland and Technetium scan showed normal uptake. Her ECG showed sinus rhythm with brief junctional rhythm with normal echocardiogram. Baby failed the new-born hearing test. On follow up, normal growth and development. No goitre with a normal ECG and Echo. Levothyroxine was stopped at 15 months of age. She was found to have moderate bilateral sensory neural hearing loss and required hearing aids from 5 months of age. One of the siblings was also wearing hearing aids. This initiated molecular genetics test for Pendred Syndrome which was confirmed. Genetic tests on parents were awaiting. Pendred Syndrome is an autosomal recessive genetic condition caused by mutations, in a gene called SLC26A4 on chromosome 7. Pendred Syndrome accounts for 10% hereditary hearing loss and causes early or progressive hearing loss in children, significant enough to have a Cochlear implant. Thyroid gland enlargement can develop in adolescence or later part of life, but thyroid functions are usually normal. People with this syndrome may have their balance affected due to the involvement of the vestibular system. This case shows the relevance of a focused family history, in order to initiate appropriate investigation for long-term management.