Late Diagnosis of Transaldolase Deficiency in an Adult Male with Hypergonadotropic Hypogonadism

Abstract

Transaldolase deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway, most often recognized in infancy or early childhood due to severe hepatic or hematologic manifestations. We describe the case of a 33-year-old man whose diagnosis emerged only in adulthood, following a prolonged and fragmented journey across multiple specialties. His presentation included hypergonadotrophic hypogonadism, persistent cytopenias, splenomegaly, and subtle but persistent cardiac anomalies. The eventual diagnosis was secured through genetic testing, which identified a homozygous pathogenic variant in the TALDO1 gene. This case highlights that transaldolase deficiency may manifest beyond childhood with insidious, multisystem involvement. It underscores the critical value of coupling meticulous clinical observation with targeted genetic testing in unveiling rare but clinically meaningful diagnoses.

Keywords

transaldolase deficiency - pentose phosphate pathway - inborn errors of metabolism - hypergonadotrophic hypogonadism - homozygous mutation - genetic

Patient Consent Statement

Verbal informed consent was obtained from the patient for publication of this case report.

Authors' Contributions

All authors were involved in data collection, manuscript drafting, and finalization. All authors have accepted responsibility for the entire content of this submitted manuscript and approved the submission.

Compliance with Ethical Principles

No ethical approval is required for a single case report.

Availability of Data and Material

For confidentiality reasons, the original data cannot be shared. However, all results are presented in this manuscript.

Publication History

Article published online:
03 December 2025

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