Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep126 | Thyroid | BSPED2015

Neonatal thyrotoxicosis – a single centre case series

Langham Shirley , Hindmarsh Peter , Peters Catherine

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...

ea0033oc1.2 | Oral Communications 1 | BSPED2013

A single centre audit of the 2012 UK Newborn Screening Programme Guidelines for pre-term infants

Woods Gemma , Langham Shirley , Peters Catherine

Newborn screening of premature infants for congenital hypothyroidism (CH) may initially be normal despite the presence of thyroid pathology and therefore repeat TSH screening is required. The 2012 revised UK Newborn Screening guidelines for premature infants state that infants born <32 weeks gestation require a repeat TSH bloodspot at 28 days postnatal age or discharge home, whichever is earlier. Prior to this, repeat testing was required at 36 weeks corrected gestation fo...

ea0045p72 | Thyroid | BSPED2016

Congenital hypothyroidism in vein of galen malformation patients

Langham Shirley , Toolis Claire , Peters Catherine

Introduction: Vein of Galen (VoGM) is a rare intracerebral vascular anomaly which may be detected on antenatal imaging or present in the neonatal period with secondary cardiac failure. A potential association with congenital hypothyroidism was examined.Investigation: Between the seven months of October 2015 and May 2016 six infants with VoGM were treated at our tertiary centre. Three (50%) were also referred through Congenital Hypothyroidism (CHT) Newbor...

ea0027p26 | (1) | BSPED2011

Thyroid isotope scans: can it predict transient or permanent hypothyroidism in babies with borderline TSH values on screening test?

Ghule Shwetal , Biassoni Lorenzo , Langham Shirley , Peters Catherine

Introduction: Neonatal biochemical screening programmes for congenital hypothyroidism (CH) allow early diagnosis and treatment of infants with CH, thereby efficiently preventing mental retardation. The purpose of the study was to assess the predictive role of Tc-99m pertechnetate thyroid scintigraphy in differentiating between transient and permanent hypothyroidism in neonates with borderline TSH results (6–19.9 μ/l) at the screening.Methods: A...

ea0039oc6.6 | Oral Communications 6 | BSPED2015

An assessment of auditory function in infants with congenital hypothyroidism

Blackman-Mack Rachel , Peters Catherine , Langham Shirley , Rajput Kaukab , Sirimanna Tony

Introduction: Thyroxine plays a key role in the development of the structures of the ear, the auditory pathway and in myelination of the central nervous system. The association between congenital hypothyroidism (CH) and neurodevelopmental outcome is clearly established. However, there is a lack of data about the prevalence and severity of hearing loss in the CH population.Methods: Between 1/1/12 and 31/12/13, 187 children were diagnosed with CH and treat...

ea0033p84 | (1) | BSPED2013

Incidence and clinical characteristics of dual thyroid ectopia in congenital hypothyroidism

Tucker Daniel , Woods Gemma , Langham Shirley , Hindmarsh Peter , Biassoni Lorenzo , Peters Catherine

Thyroid ectopia is a frequent and severe form of congenital hypothyroidism and results from failure of the process of embryonic development and migration of the thyroid gland from the pharyngeal pouch to the anterior neck with the isthmus sited at the level of the cricoid cartilage. With improved technetium scanning techniques, cases of dual foci thyroid tissue are increasingly recognised. The incidence and clinical characteristics of this group of patients has not been establ...

ea0044oc3.1 | Thyroid and Neoplasia | SFEBES2016

Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop ‘True’ Congenital Hypothyroidism

Peters Catherine , Nicholas Adeline K , Lyons Greta , Langham Shirley , Serra Eva , Schoenmakers Erik , Muzza Marina , Fugazzola Laura , Schoenmakers Nadia

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

ea0045oc5.7 | Oral Communications 5- Endocrine | BSPED2016

Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop ‘True’ congenital hypothyroidism

Peters Catherine , Nicholas Adeline K. , Lyons Greta , Langham Shirley , Serra Eva G. , Schoenmakers Erik , Muzza Marina , Fugazzola Laura , Schoenmakers Nadia

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

ea0033oc2.9 | Oral Communications 2 | BSPED2013

A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism

Schoenmakers Nadia , Cangul Hakan , Nicholas Adeline K , Schoenmakers Erik , Lyons Greta , Dattani Mehul , Peters Catherine , Langham Shirley , Habeb Abdelhadi M , Deeb Asma , Puthi Vijith , Park Soo-Mi , Muzza Marina , Persani Luca , Fugazzola Laura , Maher Eamonn , Chatterjee V Krishna

Introduction: Less than 20% of congenital hypothyroidism (CH) has a known genetic aetiology; thyroid transcription factor mutations (PAX8, Nkx2.1, Nkx2.5, FOXE1) or biallelic TSHR mutations cause <5% of thyroid dysgenesis (TD), whereas mutations in genes mediating thyroid hormone biosynthesis (TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5, SLC26A4) account for most dyshormonogenesis cases. Increased CH frequency in consanguineous populations, relatives of ...