A rare metabolic cause of premature ovarian insufficiency: case report of transaldolase deficiency.

OBJECTIVES

Transaldolase deficiency (TALDO-D) is a rare autosomal recessive disorder of the pentose phosphate pathway, characterized by growth restriction, dysmorphism, cytopenia, with variable liver involvement.

CASE PRESENTATION: Herein, we report a rare case of TALDO-D who presented with primary amenorrhea, elevated gonadotrophins, and low/undetectable estradiol levels, consistent with premature ovarian insufficiency. Molecular genetic analysis identified a homozygous frameshift variant in TALDO1 (c.345dup), caused by a duplication.

CONCLUSIONS

This case expands the clinical spectrum of TALDO-D by highlighting its association with premature ovarian insufficiency. Transaldolase deficiency should be kept in mind in the differential diagnosis of patients with premature ovarian insufficiency, mainly in the presence of hepatomegaly, cytopenia or other multisystem involvement.