hrp0094p2-50 | Adrenals and HPA Axis | ESPE2021

First case in Lebanon of homozygous mutation in CYP 11B2 leading to isolated aldosterone deficiency.

Azar Ahlam , El-Rahi Hiba , Makhoul Kevin , Makhoul Peter , Megarbane Andre ,

Isolated hypoaldosteronism is a rare cause of salt wasting in infancy and may be life-threatening, especially in the newborn. Isolated aldosterone deficiency results from loss of activity of aldosterone synthase encoded by CYP 11B2 gene. We reported the case of a newborn, who presented at the age of 4 weeks with severe dehydration, vomiting and hypotonia. Blood investigations showed severe hyponatremia, hyperkaliemia and metabolic acidosis. The familial history revealed a firs...

hrp0086p2-p527 | Fat Metabolism and Obesity P2 | ESPE2016

Arbitrary Cutoffs Lead to Underestimation of Metabolic Abnormalities in Obese Children: The Value of Age- and Sex-adjusted Normative Values

Carlier Gonod Adele , Azar Ahlam , Lecomte Nathalie , Amouyal Perrod Melanie , Prevot Manon , Jacques Adeline , Guilmin Crepon Sophie , Claude Carel Jean

Background: Metabolic syndrome and insulin resistance are well recognized in adult obesity. Their criteria and prevalence and are still controversial in children.Objective and hypotheses: To evaluate the prevalence and natural history of clinical and biological parameters of the metabolic syndrome in a pediatric cohort of obese subjects. To identify metabolically healthy subjects and the persistence of this phenotype over time.Meth...