Abstract Search

ea0070aep1106 | Hot topics (including COVID-19) | ECE2020

Dietary interventions for the treatment and management of autoimmune thyroid disease: A systematic review and meta-analysis

Correia Jorge , Meraj Hafsa , Ahmad Maaz , Mariela Marroquin Ramirez Lucia , Gómez Corral Laura , Genton Graf Laurence , Pataky Zoltan

Background: There is evidence that dietary interventions can reduce antibody levels in patients with autoimmune thyroid disease (ATD), which can have a beneficial effect on the clinical manifestations of the disease. The aim of this study was to review the literature regarding the different types of dietary supplementations and their effectiveness in the management of ATDs.Methods: Using a predefined search strategy, four databases were searched (PubMed,...

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ea0081rc2.1 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES

Smith Chris , Read Jordan , Hall Charlotte , Maharaj Avinaash , Marroquin Ramirez Lucia , Qamar Younus , Hughes Claire , Clark Adrian , Prasad Rathi , Chan Li , Musa Salwa , Metherell Louise

Primary adrenal insufficiency in children can be due to mutations in >20 genes, most commonly CYP21A2, giving rise to 21-hydroxylase deficiency. Phenotypically these disorders overlap and present with conditions ranging from isolated (or familial) glucocorticoid deficiency (FGD) to syndromic disorders involving multiple tissues. Distinguishing between them can be problematic, especially where biochemical testing is not possible or not undertaken. Over the last 30 ...

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ea0085oc5.5 | Oral Communications 5 | BSPED2022

The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing

Maitra Saptarshi , Smith Christopher , Hall Charlotte , Read Jordan , Maharaj Avinaash V , Mariela Marroquin Ramirez Lucia , Qamar Younus , Prasad Rathi , Chan Li F , Metherell Louise A

Background: Primary adrenal insufficiency (PAI) can be associated with significant morbidity in children of all ages, the most common cause being Congenital Adrenal Hyperplasia (CAH). Several other rare inherited causes of PAI have been identified over the years which lack diagnostic phenotypic or biochemical signs, leaving genetic testing as the only approach to make a definitive diagnosis. Our cohort involves >440 patients who presented with features of PAI hypogl...

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ea0090p560 | Adrenal and Cardiovascular Endocrinology | ECE2023

Genetic Aetiology of Primary Adrenal Insufficiency in Sudan

Smith Chris , Abdullah Mohamed , Hassan Samar , Qamar Younus , Hall Charlotte , Maitra Saptarshi , Maharaj Avinaash , Mariela Marroquin Ramirez Lucia , Read Jordan , Chan Li , Metherell Louise , Musa Salwa

Primary adrenal insufficiency (PAI) in children is usually congenital with more than 25 causal genes leading to overlapping phenotypes. A genetic diagnosis is helpful to guide management and genetic counselling but can be challenging in resource limited settings where facilities for antibodies and genetic testing may be unavailable. Studies from Africa are rare but, in Sudan, the most common genetic aetiologies for PAI are congenital adrenal hyperplasia (CAH; mostly CYP21A...

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ea0094p15 | Adrenal and Cardiovascular | SFEBES2023

Genetic aetiology of primary adrenal insufficiency in Sudan

Smith Chris , Abdullah Mohamed , Hassan Samar , Fauzi Luqman , Qamar Younus , Hall Charlotte , Maitra Saptarshi , Maharaj Avinaash , Marroquin Ramirez Lucia , Read Jordan , Chan Li , Metherell Louise , Musa Salwa

Primary adrenal insufficiency (PAI) in children is usually congenital with more than 25 causal genes with overlapping phenotypes. Genetic diagnosis helps to guide management and genetic counselling but can be challenging in resource limited settings. The most common genetic aetiologies for PAI in Sudan are congenital adrenal hyperplasia (CAH; mostly CYP21A2) and Triple A syndrome (AAAS). Here we investigate other genetic aetiologies of PAI in a cohort of 43 Sudanese families (...