Endocrine Abstracts

Introduction: Most adolescents with GID have no overt functional or phenotypic abnormalities to explain their presentation. Currently all female to male (FtM) persons undergo detailed evaluation of adrenal function. This study aimed to determine whether subtle abnormalities of adrenal were present and what the appropriate investigation schedule should be.Methods: Over the past 4 years, 55 biological females aged mean age 16.54 years (13.46–18.37) we...

Background: Triple A syndrome is a rare, autosomal recessive cause of adrenal insufficiency. Additional features include alacrima, achalasia of the oesophageal cardia, and neurodegenerative disease in 60%. The AAAS gene product is the nuclear pore complex protein ALADIN of unknown function. AAAS patient dermal fibroblasts have been described as hypersensitive to oxidative stress1,2,3.Objective: To establish a better disease model by kno...

Introduction: Mitochondria are critical organelles which generate most of the energy (ATP) in the eukaryotic cell by oxidative phosphorylation. Impaired mitochondrial function will, therefore, restrict myocellular function. Vitamin D deficiency is widely prevalent with fatigue amongst its commonest manifestation. 31P-MRS is a non-invasive technique used to measure skeletal muscle bioenergetics in vivo. We have examined the relationship between vitamin D and mitochon...

Introduction: The prenatal treatment of Congenital Adrenal Hyperplasia (CAH) with Dexamethasone (Dex) is effective at minimising virilisation in affected females. Treatment is initiated with Dex at 20 mcg/kg per day (max 1.5 mg/day) as soon as pregnancy is confirmed and continued to term in affected females only. There are concerns regarding neurocognitive difficulties in children exposed to prenatal Dex, but no reports of late intra-uterine deaths (IUD) attributed to prenatal...

Introduction: Neuroglycopaenia is recognised with abnormal neurology and development (Ab Dev) in 26–44% of children with persistent congenital hyperinsulinism (P-CHI). The prevalence of Ab Dev in spontaneously resolving CHI (R-CHI) is not known. We aimed to investigate Ab Dev in R-CHI and P-CHI children in a contemporary cohort.Methods: All children (n=67) were assessed for Ab Dev in the domains of speech, language, motor and vision, and cate...

Introduction: Maternal diet during pregnancy has been linked to offspring body composition, but the specific nutrients and mechanisms involved are not well understood. Higher n-3 polyunsaturated fatty acid (PUFA) status is associated with lower risk of adiposity in adults, whereas n-6 PUFA are adipogenic. The effect of maternal PUFA in determining offspring body composition is unknown.Method: We evaluated the relationships between maternal ...

Background: 3-M syndrome is associated with severe proportionate pre- and postnatal growth restriction, and is caused by mutations in CUL7, OBSL1, or CCDC8 genes.Aims and methods: To define baseline growth and GH–IGF1 axis status as well as response to r-hGH in relation to mutation status in 3-M children, using retrospective analysis of data from clinical notes.Results: 50 individuals (19 CUL7, 19 <...

Background and aims: Congenital hypopituitarism (CH) encompasses a spectrum of phenotypes. Known genetic factors account for variable percentage of cases depending on the cohort screened. We analysed the results of genetic screening in a large cohort of patients with CH with the following aims: i) to clarify the genetic aetiology of CH ii) identify any phenotype genotype correlations and iii) propose a screening strategy.Patients and methods: Over 15 yea...

GH deficiency is recognised as a complication of adult traumatic brain injury (TBI) but there are conflicting data in children possibly due to the influences such as age at TBI, trauma mechanism but also by timing, method and criteria of hormonal evaluation.Objectives: To assess the long-term impact of TBI on the GH–IGF1 axis following TBI in childhood.Patients: Longitudinal study of 28 participants with a history of moderate/...

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...