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...

hrp0098p2-21 | Adrenals and HPA Axis | ESPE2024

Should we routinely screen for adrenal rests in Congenital Adrenal hyperplasia?

Alkhalaf Abeer , Babiker Amir , Alsubaie Abdullah , Almutair Angham , Alalwan Ibrahim

Testicular adrenal rest tumors (TARTs) may develop in some patients with congenital adrenal hyperplasia (CAH), probably from overstimulation of adrenocorticotrophic hormone (ACTH) to remnants of intra-testicular adrenal tissue. TARTs can lead to structural testicular damage and infertility. Although rare, they may occur when CAH patients are non-compliant with glucocorticoid therapy. Due to their deep-sited location, usually only TARTs of more than 2 cm are palpable, hence, th...

hrp0098p2-125 | Fat, Metabolism and Obesity | ESPE2024

The Metabolic Effect of Liraglutide as Add on Treatment to Lifestyle Modification on Obese Adolescents in a Tertiary Centre, Riyadh.

Aljarallah Gadah , Albaraki Joud , Alharbi Reem , Alsomali Nouf , Alkhalaf Abeer , Yenugadhati Nagarajkumar , Alfaraidi Haifa , Babiker Amir

Background: Childhood obesity, defined as having a BMI ³95th percentile for age and gender, can have serious consequences, hence; new treatments are needed. Liraglutide, a glucagon-like peptide-1 hormone, is the first FDA-approved therapy for adolescents’ obesity in over a decade. This study aim ed to evaluate the efficacy of liraglutide for weight loss and other metabolic parameters in children with obesity in Saudi Arabia.<s...