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Background: Thyroid hormones are essential for the adequate growth and development of the kidney and also target changes in glomerular and tubular functions and electrolyte and water homeostasis. Hyperthyroidism leads to an increase in glomerular filtration rate (GFR) and renal blood flow with converse effects seen in hypothyroidism. In turn, the kidneys are responsible for the metabolism and elimination of thyroid hormones and thus renal disease can lead to s...

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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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Endocrine Abstracts

Thyroid hormones and the kidneys: Don’t forget to check renal function in thyroid disease

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

BiosciAbstracts