ESPE Abstracts

Purpose: Transaldolase deficiency is a rare, multisystemic, autosomal recessive disease of carbohydrate metabolism characterized clinically by IUGR, bicytopenia (70%), congenital heart diseases (60%), dysmorphic features (50%), liver failure, hepatosplenomegaly, nephrolithiasis and endocrine disorders (30%).

Case: A 15-year-5-month-old girl patient was admitted with primary amenorrhea. It was learned that the patient, who was born at term weighing 2700 grams, started pubarche at the age of 12.5, thelarche at the age of 13.5, and was always shorter than her peers. The patient is also being followed up by the relevant departments due to ASD, elevated liver transaminases, bicytopenia and nephritic proteinuria. It was learned that there was consanguinity between the parents and that there was a history of sibling death on the 20th postnatal day. In her physical examination; weight: 46.1 kg (-1.6 sds), height: 156.9cm (-0.87 sds), bmı:18.73 kg/m2 (-1.14 sds) and thyroid stage 0, thelarche tanner stage 3, split nipples, pubarch stage 4, slim body structure, short philtrum, columella ala nasi, prognathism, 5th finger clinodactyly, laxity in joints. Examinations revealed bicytopenia and mild transaminase elevation. Gonodotropin levels; FSH: 96.9 mIU/mL, LH:31.95mlU/mL, E2<3pg/mL and also microalbuminuria was detected. Multiple dicarboxylic acid excretions from urinary organic acids was available. Pelvic ultrasonography; Uterus: 65 × 22mm, ovaries could not be visualized. Abdominal MRI shows uterus 12 × 17 × 34mm, hypoplastic, bilateral ovaries could not be visualized. The individual, whose chromosomal analysis revealed 46XX, received a diagnosis of Transaldolase deficiency following Whole Exome Sequencing (WES) analysis, which identified a homozygous mutation of c.637+1G >A in the Transaldolase 1 gene.

Conclusion: In terms of the endocrine system in Transaldolase deficiency, manifestations such as thyroid function abnormalities (hyperthyrotropinemia), hypoglycemia, ambiguous genitalia, clitoromegaly, micropenis, hypergonadotropic hypogonadism, testicular/ovarian failure, primary/secondary amenorrhea, and osteopenia may present. In cases accompanied by endocrine problems and multisystem involvement, rare underlying metabolic diseases should also be kept in mind.