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



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).


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.

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We thank the family for participating in our research. We are grateful to Dr. Yılmaz Yıldız for providing insightful comments on the manuscript.

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Correspondence to Naz Guleray Lafcı.

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Lafcı, N.G., Colak, F.K., Sahin, G. et al. Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway. Hormones (2020). https://doi.org/10.1007/s42000-020-00252-4

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  • Transaldolase deficiency
  • TALDO1
  • Hypergonadotropic hypogonadism
  • Alpha-fetoprotein
  • Reverse genetics