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ea0017oc2 | Endocrinology 1 | BSPED2008

Persistent AVP production and hyponatraemia in a male infant with an activating mutation of the AVPR2 and his heterozygous mother: new insights into NSAID

Gupta S , Cheetham T , Lambert H , Roberts C , Bourn D , Coulthard M , Ball S

Introduction: The Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked condition characterised by reduced renal water clearance and hyponatraemia resulting from gain of function mutations in the type 2 Vasopressin (AVP) receptor (AVPR2). Female carriers were thought not to express a phenotype. We describe a kindred with NSIAD, highlighting molecular and physiological characteristics that extend understanding of this condition and of AVP production.<p c...

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ea0029oc17.5 | Diabetes Basic | ICEECE2012

Glucocorticoid receptor α expression is downregulated in gluteal subcutaneous adipose tissue of black South African women and associates with increased metabolic risk

Goedecke J. , Stimson R. , Livingstone D. , Hayes P. , Adams K. , Dave J. , Keswell D. , Evans J. , Victor H. , Lambert E. , Levitt N. , Kahn S. , Olsson T.

Introduction: Increased capacity for glucocorticoid regeneration in subcutaneous adipose tissue (SAT) by 11β-hydroxysteroid dehydrogenase-1 (11HSD1) is associated with obesity and associated risk factors. We hypothesised that down-regulation of SAT 11HSD1 and/or glucocorticoid receptor-α (GRα) may explain differences in body fat distribution and metabolic risk between black and white women. The study aimed to compare the expression of 11HSD1 and glucocorticoid r...

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Endocrine Abstracts

Persistent AVP production and hyponatraemia in a male infant with an activating mutation of the AVPR2 and his heterozygous mother: new insights into NSAID

Glucocorticoid receptor α expression is downregulated in gluteal subcutaneous adipose tissue of black South African women and associates with increased metabolic risk

BiosciAbstracts