hrp0097p1-138 | Multisystem Endocrine Disorders | ESPE2023

An isolated hyperchlorhidrosis in a a patient with CA12 mutation.

Alkhalaf Abeer , Alfaraidi Haifa

Hyponatremia is a common electrolytes disorder in children. It can result from sodium chloride losses through GI, the kidneys, or in the sweat. Sodium chloride loss in the sweat can be caused by many different etiologies as cystic fibrosis, malnutrition, metabolic diseases, dermatological diseases and endocrine diseases. We are reporting a 6 months old boy, medically free, who had recurrent admissions to the PICU as a case of hyponatremic dehydration, with a sodium level of 11...

hrp0097p1-275 | Fat, Metabolism and Obesity | ESPE2023

Child with AR sitosterolemia with no hematological manifestations.

Alkhalaf Abeer , Aldubayee Mohammed , Alzaben Abdullah

Sitosterolemia is an autosomal recessive disorder affecting lipid metabolism which is characterized by decreased biliary excretion and increased absorption of plant sterols and cholesterol, leading to significantlyelevated serum levels of plant sterols. Approximately 80 homozygous or compound heterozygous variants in adenosine triphosphate-binding cassette subfamily G genes (ABCG5/ABCG8) genes have been described in patients with genetically confirmed sitosterolemia. Clinicall...