Melek Yildiz, Zerrin Onal, Gozde Yesil, Tugce Goksu Kabil, Guven Toksoy, Sukran Poyrazoglu, Firdevs Bas, Ozlem Durmaz, Feyza Darendeliler
Transaldolase deficiency is a rare inborn autosomal recessive disorder caused by biallelic mutations in the TALDO1 gene. It is characterized by intrauterine growth restriction, dysmorphism, abnormal skin, cytopenia, hepatosplenomegaly, liver cirrhosis, endocrine problems, renal and cardiac abnormalities. We present two siblings of Turkish origin with early-onset form of transaldolase deficiency and hypergonadotropic hypogonadism in both sexes. The girl (index) was followed-up with cryptogenic cirrhosis, leukopenia and thrombocytopenia, skin abnormalities, congenital heart defects, hypercalciuria, nephrolithiasis, proteinuria, chronic kidney disease throughout childhood...
February 24, 2023: Journal of Clinical Research in Pediatric Endocrinology