A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings

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What is already known on this topic? Transaldolase deficiency is a multisystemic disease which is characterized by intrauterine growth restriction, dysmorphism, abnormal skin, cytopenia, hepatosplenomegaly, liver cirrhosis, endocrine problems, renal and cardiac abnormalities. Several endocrine system problems such as abnormal external genitalia, primary hypothyroidism, short stature, bone abnormalities and hypergonadotropic hypogonadism may occur in transaldolase deficiency. What this study adds? Gonadal dysfunction with hypergonadotropic hypogonadism may occur in both girls and boys with transaldolase deficiency. Hypergonadotropic hypogonadism may become hormonally apparent in adolescence in girls with transaldolase deficiency although puberty starts on time. Transaldolase deficiency should be included in the differential diagnosis of cryptogenic cirrhosis and multisystemic involvement especially if concomitant hypergonadotropic hypogonadism is assigned. Patients with transaldolase deficiency should be evaluated for gonadal functions especially during puberty.