Endocrine Abstracts

Background: Individuals with Down Syndrome are at increased risk of developing thyroid disease. Given thyroid disorders represent a preventable cause of neurodevelopmental impairment, early detection and treatment are essential to maximise cognitive abilities in this already impaired population. This service evaluation sought to assess the efficacy of the Down Syndrome Hypothyroid Screening programme in its uptake and subsequent diagnosis of hypothyroidism.<p class="abstex...

Background: Transition is an important stage in the care of a young person with a long-term endocrine condition.Objective: To explore current services for young people (YP) with endocrine conditions from the perspective of paediatric and adult endocrinologists, and YP and their parents using their services.Methods: There were two components:- i). service questionnaire for completion by paediatric and adult endocrinologists ii). &#1...

Introduction: Williams syndrome (WS) is a multi-systemic disorder caused by a deletion in the region 7q11.23. Childhood endocrine follow-up is mainly aimed to monitor hypercalcemia and thyroid function. A high prevalence (63–71%) of impaired glucose tolerance (IGT) and diabetes mellitus (DM) in young adults with WS is reported. WS guidelines recommend Oral Glucose Tolerance Test (OGTT) starting from 30 years of age. We demonstrate evidence of IGT and DM in WS at a much ea...

Background: In Scotland median age at notification with elevated capillary (c) TSH (>25 initially or >8 μ/l on repeat testing) is 10 (range 3–35) days. If cTSH elevation is >100 μ/l decompensated hypothyroidism (moderate: free (f) T4 5 −<10, severe: <5 pmol/l) is likely and thyroxine treatment should start without delay. If TSH elevation is mild the clinician may prefer to wait for venous (v) fT4 result and observe the infant’s pro...

Introduction: Patients with mutations in the Succinate Dehydrogenase Complex Subunit B (SDHB) gene are predisposed to neuroendocrine tumours such as parangangliomas, phaeochromocytomas and gastrointestinal stromal tumours. Individuals who are carriers but have no manifestation of disease require regular surveillance. Our tertiary endocrine service provides follow up/surveillance for these patients and we cover a wide geographical area throughout the West of Scotland.<p cla...

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 ...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterised by impaired cortisol synthesis. In the CaHASE study, a surprisingly low number of cases were identified as attending adult endocrine clinics. It has been suggested that patients with CAH are lost to follow up around the time of transition to adult services.In our service, there is a transition clinic that has a lead paediatric and adult Consultant who attend...

Introduction: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Methods: Markers of bone metabolism were evaluated in 15 children (9M/6F) receiving cyclical BPT intravenously for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX),...

Introduction: Hypophosphatasia is a very rare inherited condition due to ALPL variants and is associated with a variable presentation.Case description: The index case initially presented at 7 months with bulging anterior fontanelle, failure to thrive and mild developmental delay. She was born at 34 weeks gestation and had amniotic bands causing digital anomalies. She was sitting at 8 months, crawling by 15 months and a hearing test was normal. A...

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis.Objective & HypothesisTo investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Population / MethodsTen ratios were calculated on steroid metabolite data analysed b...