Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway

Lafci N., Colak F. K. , Sahin G., Sakar M., Cetinkaya S., Savas-Erdeve S.

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, vol.20, no.3, pp.581-585, 2021 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.1007/s42000-020-00252-4
  • Journal Indexes: Science Citation Index Expanded, Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.581-585
  • Keywords: Transaldolase deficiency, TALDO1, Hypergonadotropic hypogonadism, Alpha-fetoprotein, Reverse genetics, TALDO1 GENE


Background Transaldolase (TALDO) deficiency (OMIM #606003) is a rare autosomal recessive multi-systemic disorder of carbohydrate metabolism. It has a vast phenotypic spectrum ranging from neonatal liver failure to slowly progressive liver cirrhosis and is characterized by intrauterine growth restriction, hepatosplenomegaly, bicytopenia, nephrolithiasis, and congenital heart disease. Methods and results We report a patient with a late-onset form of TALDO deficiency characterized by hypergonadotropic hypogonadism and slightly elevated levels of alpha-fetoprotein (AFP). A novel TALDO1 mutation was detected through the application of reverse genetics with the use of clinical exome sequencing (CES). Conclusion This report provides further evidence that reverse genetics is a useful approach in patients who do not manifest the hallmark features of known and recognizable syndromes. TALDO deficiency should be considered in the differential diagnosis of unexplained elevated AFP levels and hypergonadotropic hypogonadism with microlithiasis.