Endocrinological evaluation of children and adolescents with hereditary spherocytosis: a cross-sectional retrospective multicenter study

Background: Hereditary spherocytosis (HS) is one of the most common causes of hereditary hemolytic anemia among erythrocyte membrane disorders. Endocrine complications are commonly seen in chronic anemias, such as β thalassemia major and sickle cell anemia; these include growth retardation, thyroid dysfunction, hypoparathyroidism, carbohydrate metabolism disorders, bone metabolism disorders, vitamin D3 deficiency/insufficiency, delayed puberty, and adrenal insufficiency. However, studies on endocrine problems in HS are limited. Methods: This study evaluated 40 children with HS. Data included clinical features, anthropometric parameters, pubertal stages, and laboratory evaluation for growth, thyroid, parathyroid, carbohydrate metabolism, bone metabolism, gonadal, and adrenal functions. Results: The cohort comprised 24 females and 16 males, with a median age of 10.0 years. Two patients (5%) had severe HS requiring regular transfusions and chelation therapy. Short stature was observed in 5%, low body mass index in 10%, obesity in 5%, and subclinical hypothyroidism in 5% of patients. Vitamin D insufficiency or deficiency was noted in 55% of the cohort. Patients with vitamin D insufficiency or deficiency were significantly older than those with sufficient levels (p = 0.043). Impaired fasting glucose was found in 32.5%. Neither diabetes mellitus nor adrenal insufficiency was detected. Ferritin levels were elevated in 62.5% of patients, but showed no significant association with anthropometric parameters. None of the patients had signs of delayed puberty. Conclusions: Endocrine complications, such as vitamin D insufficiency/ deficiency, short stature, and impaired fasting glucose, necessitate regular monitoring and early intervention in HS. Older age was associated with vitamin D insufficiency and deficiency in this population, underscoring the importance of age-specific surveillance. Further research with larger cohorts is required to validate these findings and optimize monitoring strategies for pediatric HS patients.