Endocrine Abstracts

Background: A diagnosis Silver–Russell Syndrome (SRS) is important for early institution of appropriate management, access to therapy and reduces the burden of diagnostic uncertainty. SRS is molecularly heterogeneous and 11p15 LOM/upd(7)mat account for ~60% cases. Monogenic causes include variants in HMGA2, CDKN1C, IGF-2, PLAG1 and contribute to 5% cases. Clinical SRS diagnosis requires the fulfilment of ≥4/6 Netchine–Harbison Clinical Scoring ...

Background: Ectopic-ACTH syndrome (EAS) is an extremely rare cause of Cushing’s syndrome in young children. The intensity of ACTH secretion and hypercortisolaemia is greater in EAS than in Cushing’s disease. Control of hypercortisolaemia represents a key management step while awaiting localization of the ACTH source or in preparation to surgery. Etomidate inhibits cortisol synthesis and its rapid onset of action makes it an ideal medication in severe hypercortisolaem...

Silver-Russell syndrome (SRS) is characterised by low birth weight, short stature, and feeding difficulties in childhood, with marked leanness also described. There is limited information on body composition in older people with SRS.Objective: To evaluate body composition in adults with SRS. Methods: Participants aged ≥18 years with molecularly-confirmed SRS attended a single study appointment. Body composition was evaluated ...

Introduction: Transient neonatal diabetes 1 (TNDM1) has an estimated incidence of 1 in 400 000 and is characterised by intra-uterine growth retardation and diabetes presenting soon after birth. Spontaneous remission of diabetes usually occurs within the first year of life. TNDM1 is caused by overexpression of imprinted genes at chromosome 6q24. Three causes have been described: paternal uniparental disomy for chromosome 6; paternally inherited duplication of 6q24; and maternal...

The classical features of Silver-Russell syndrome (SRS) appear to become less pronounced with increasing age. Small-for-gestational-age (SGA) birth is associated with adult metabolic syndrome. SRS is associated with SGA but the adult sequelae and long-term effects of childhood growth hormone (GH) treatment are unclear.Objective: To determine the phenotype and cardio-metabolic profile in older individuals with SRS and compare individuals previously untrea...

Introduction: The insulin tolerance test (ITT) is the gold standard method to assess GH and/or ACTH deficiency. Safety concerns with the use of this test were raised more than 20 years ago from overtreatment of hypoglycaemia and consequent cerebral oedema, resulting in some centres using alternative tests. We have re-appraised use of the ITT in a contemporary setting and evaluated: i) timing of the glucose nadir, ii) time to resolution of hypoglycaemia, iii) adverse events and...

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 ...

Objective: Remission rates in young people with Graves’ hyperthyroidism are <25% after a 2-yr course of thionamide antithyroid drug (ATD). Immunomodulatory agents might improve outcome by facilitating immune tolerance. We explored whether rituximab (RTX) would increase remission rates when administered with a short course of ATD.Design: This was an open label multi-centre single arm phase 2 trial in newly presenting young people (12-20y) with Gr...

Introduction: Monitoring glucocorticoid (GC) replacement in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) remains challenging. There are disease-specific patterns in the plasma and urinary steroid profiles in 21OHD, a key role being played by the 11-oxygenatedC19 androgens. Aim: To explore the urinary steroid profile in 21OHD in relation to treatment and plasma steroids. Methods: Partic...

Adrenal insufficiency (AI) is characterised by lack of cortisol production from the adrenal glands which is treated with replacement doses of hydrocortisone. At times of physiological stress there is an increased requirement for exogenous glucocorticoids, which if untreated can lead to an adrenal crisis. Currently there are no unified guidelines for those <18 years old in the UK; this can lead to a substantial variation in the management of AI in both an emergency and peri...