Endocrine Abstracts

Introduction: UK Screening for CHT was introduced in 1981 to facilitate early detection, treatment and prevent associated morbidity and mortality. Screening in the North East and Cumbria is coordinated by the XXXXXX. A locally defined threshold of TSH >6 mU/l constitutes a positive screening test in contrast to national guidance of > 10 mU/l. We explored the longer-term outcomes of infants identified by the screening programme.Aim: The aims of th...

Background: In adults, hypoparathyroidism is a rare, but recognised complication of radioactive Iodine therapy. Hypothyroidism has been reported in neonates who have been exposed to Iodine131 in-utero, however, only one case of neonatal hypoparathyroidism secondary to maternal Iodine131 therapy has been described in the literature. To our knowledge this is the first case in the UK.Case presentation: A 27-year-old woman received two ...

A 9-year-old boy presented to his local hospital having had a respiratory arrest at home. He had a background of a chromosomal microdeletion, and there had been several days of cough and coryza. CPR was underway and upon arrival in A&E he was resuscitated and retrieved to PICU. The working diagnosis was lower respiratory tract infection.On day 4 of his PICU stay, with progressive signs on his chest X-ray, an ultrasound scan was performed. Th...

Introduction: Iodine is essential for thyroid hormones synthesis, and fetal/infant neurodevelopment. There is increasing evidence of iodine insufficiency among British women. The MABY study is a longitudinal cohort study assessing the iodine and thyroid status of pregnant women and their offspring.Methods: Healthy women were recruited (target 697 mother/infant pairs) from antenatal clinics at gestational week (GW) 28±1. Blood and urine were collecte...

Apraxia of lid opening is defined as non-paralytic motor abnormality characterized by difficulty in lid opening after lid closure.A 10-year-old presented to the ophthalmologist with history delayed opening the right eye after blinking. There was slight delay in opening of right eye after a blink during examination. There was no lid retraction. Visual acuity was normal in both eyes. Initial work up showed normal full blood count, urea and electrolytes and...

15-year-old girl presented to the psychiatrist with behavioural problems, fluctuation in mood, paranoia, low self-confidence and school refusal. She presented to her GP 4 months later with history of increased body hair and irregular menstrual pattern. Her sex hormone binding globulin was low. Luteinising hormone, follicular stimulating hormone and testosterone levels were normal. Pelvic ultrasound showed both ovaries contain multiple follicles suggestive of polycystic ovary d...

Introduction: Infants born to mothers with a history of thyroid disease may be at risk of developing neonatal thyrotoxicosis. Although rare, affecting approximately 1% of infants, maternal thyroid disease can have serious consequences including intrauterine death or neonatal death. Maternal Grave’s disease poses significant risk due to trans-placental passage of TRAB.Methods: Mothers with thyroid disease and their subsequent infants were audited ret...

Introduction: Neonatal thyrotoxicosis is rare and occurs with transfer of Thyrotropin Receptor Antibodies (TRAb) across the placenta in a mother with a history of Grave’s disease. The neonatal mortality rate can be as high as 20%, usually secondary to cardiac failure. Therefore prompt diagnosis and treatment is essential.Methods: We report a series of seven infants with neonatal thyrotoxicosis seen in the Endocrine clinic between 2011 and 2015. Mate...

Introduction: We do not fully understand why some hypothyroid patients complain of persistent symptoms despite normalisation of TSH with levothyroxine therapy. Recent evidence in adults suggests that polymorphism in deiodinase2 enzyme could lead to lower level of T3 in some tissues and persistence of symptoms. A combination therapy with T3/T4 may improve symptoms especially psychological well-being, mood and memory in such patients. Combination...

Background: CH has an incidence of 1 per 3500 live births per year. Early diagnosis and treatment are essential to prevent severe morbidity of mental retardation and developmental delay in children. The newborn screening programme has played a major role in management of CH.Objectives: The aim of the first audit was to identify our practice in management of CH once the newborn screening laboratory notified about an abnormal result. Following the first au...