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

ABSTRACT: Transaldolase deficiency is a rare autosomal recessive inborn error of carbohydrate metabolism caused by pathogenic/likely pathogenic biallelic mutations in the TALDO1 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.

SUBMITTER: Takaleh A 

PROVIDER: S-EPMC10911397 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature