Searchable abstracts of presentations at key conferences in endocrinology

ea0103oc3.2 | CME Case Presentations 3 | BSPED2024

Diabetes and deafness: not just wolfrom

Roome Claire , Elbeshlawi Ismail , Habeb Abdelhadi , Besser Rachel

A 5-year-old girl transferred into our service with antibody negative diabetes (to islet antigen 2 and glutamic acid), diagnosed aged 15 months, following a 4-week history of polyuria and polydipsia, without diabetic ketoacidosis (C-peptide (CP) 576 pmol/l and presenting glucose 14 mmol/l). She was treated with multiple daily injections from diagnosis. There was a history of severe progressive sensorineural deafness since six months, and iron deficiency normocytic anaemia. Gen...

ea0031p360 | Thyroid | SFEBES2013

Homozygous resistance to thyroid hormone: can cardiac complications be prevented?

Moran Carla , Al-Johani Amal , Rajanayagam Odelia , Halsall David , Habeb Abdelhadi , Chatterjee V K K

Resistance to thyroid hormone (RTH) is usually due to heterozygous mutations in THRB gene with rare cases being homozygous for receptor defects. We describe an RTH case due to a homozygous TRĪ² mutation (R243Q).The Proband (male, 8.4 years), was born at term with low birth weight (1.9 kg) to consanguineous parents. He has a prominent nasal bridge, goitre, low body weight (10th centile), recurrent tonsillitis, hyperactivity and has mild hearing impair...

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 ...

ea0038oc5.5 | Thyroid and parathyroid | SFEBES2015

Investigating the genetic architecture of gland-in-situ congenital hypothyroidism by comprehensive screening of eight known causative genes

Nicholas Adeline K , Serra Eva Goncalves , Cangul Hakan , Al-Yaarubi Saif , Ullah Irfan , Habeb Abdelhadi , Deeb Asma , Peters Catherine , Dattani Mehul , Shenoy Savitha , Murray P G , Puthi Vijith , Park Soo-Mi , Nathwani Nisha , Babiker Amir , Martin Howard , Anderson Carl A , Maher Eamonn , Chatterjee V Krishna , Schoenmakers Nadia

Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...