Challenges in hypothalamic hamartoma: focus on practical management

Hypothalamic hamartomas (HH) are rare, non-malignant congenital lesions that disrupt normal hypothalamic function, often leading to premature activation of the hypothalamic-pituitary-gonadal axis and epilepsy. This review examines the underlying pathophysiology, diverse clinical presentations, diagnostic approaches, and emerging management strategies associated with HH, mainly focusing on precocious puberty and epilepsy. The review encompasses the diagnostic and therapeutic approach to these conditions related to HH and discusses other endocrinological and neurological comorbidities to be investigated. The intricate relationship between hormonal dysregulation and neurological disorders underscores the necessity of a multidisciplinary approach to diagnosis and treatment. Furthering our understanding of this complex condition is essential to refine therapeutic protocols and to improve long-term outcomes for affected individuals.