Midline brain abnormalities and associated endocrine dysfunctions: a clinical and MRI-based study

Background: This study aimed to assess the spectrum and prevalence of endocrine disorders in pediatric patients with midline brain abnormalities (MBA). Methods: This retrospective observational study was conducted at a tertiary pediatric endocrinology center and included patients younger than 18 years of age with MBA. Clinical data were obtained from medical records. Results: The study included 17 patients (52.9% male) with a median age of 11.1 (8.9–15.7) years. The median age at first admission was 5.3 (1.5–9.9) years, and the median follow-up period was 6.8 (2.1–7.9) years. The most common clinical finding at admission was short stature (29.5%). Brain magnetic resonance imaging most frequently revealed corpus callosum abnormalities (52.9%), followed by septo-optic dysplasia (17.6%). Endocrine disorders were present in 82.3% of patients with MBA. The most frequently observed endocrine disorder was multiple pituitary hormone deficiency (41.2%). In addition, isolated endocrine disorders such as central hypothyroidism (17.6%), growth hormone deficiency (11.8%), diabetes insipidus (5.9%), and hypogonadotropic hypogonadism (5.9%) were observed. When each endocrine disorder was evaluated individually, central hypothyroidism emerged as the most frequently identified condition (58.8%). Three patients had no detectable endocrine dysfunction. Conclusions: Endocrine disorders were observed in 82.3% of patients with MBA, with central hypothyroidism being the most common when considered individually. The high prevalence of endocrine disorders in children with MBA underscores the importance of routine endocrine screening in this population.