Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.

Transaldolase deficiency is a rare autosomal recessive inborn error of carbohydrate metabolism caused by pathogenic/likely pathogenic biallelic mutations in the gene. This disorder is characterized by multisystem involvement with variable phenotypes, including intrauterine growth restriction; dysmorphic features; abnormal skin; hepatosplenomegaly; cytopenia; and cardiac, renal, and endocrine abnormalities. Herein, we present two Emirati patients with hypergonadotropic hypogonadism due to transaldolase deficiency and variable phenotypes of systemic involvement.

Prevalence of autoantibodies in type 1 diabetes patients and its association with the clinical presentation - UAE Eastern Region experience.

Background: Positive autoantibodies and its association with the clinical course of type 1 diabetes mellitus (T1DM) have been reported worldwide, however, no such data have been reported in United Arab Emirates population.

Objectives: To study the prevalence of positive autoantibodies in T1DM pediatric patients and its association with the clinical presentation.

Methods: Descriptive retrospective chart review of all new cases of pediatric T1DM at Tawam Hospital.