Searchable abstracts of presentations at key conferences in endocrinology


Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2

Qamar Younus , Maharaj Avinaash , Chan Li , Deeb Asma , Metherell Louise

Background: Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency, with preserved mineralocorticoid production. FGD type 2 is caused by mutations in MRAP encoding the melanocortin-2 receptor accessory protein. MRAP has a single transmembrane domain essential to its function in trafficking the MC2R/ACTH receptor. 15 mutations in MRAP have been described, five of which are within the canonical donor splice-site of intro...

ea0033oc4.4 | Oral Communications 4 | BSPED2013

Special features of neonatal diabetes in a series of Arab patients from the Gulf region

Deeb Asma , Abiary Mohamed , Attia Salima , Osman Amani , Flanagan Sarah , Ellard Sian

Advances in molecular genetics revealed various causes for neonatal diabetes (ND) Wider clinical awareness led to recognition of different phenotypes. In areas like the Gulf, it is expected that the incidence of ND to be higher due to the high frequency of consanguinity. The different ethnic background might result in different causes and phenotypes of ND compared to data reported from the west.We report 19 patients from 11 families with ND. All patients...

ea0058oc5.8 | Oral Communications 5 | BSPED2018

Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype

Cottrell Emily , Chatterjee Sumana , Moore Gudrun , Ishida Miho , Greening James , Wright Neil , Bossowski Artur , Deeb Asma , Al Basiri Iman , Rose Stephen , Mason Avril , Ahn JooWook , Bint Susan , Savage Martin O , Metherell Louise A , Storr Helen L

Introduction: Our Centre receives international referrals for genetic analysis of children with short stature (SS) and features of GH/IGF-1 insensitivity. Copy number variation (CNV) hasn’t previously been investigated in GH/IGF-1 insensitivity. We hypothesised CNVs contribute to the phenotype in our undiagnosed cohort.Experimental design/methodology: CGH was performed with oligonucleotide array using ~60,000 probes in 60 patients (38 M, mean age 7....

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...