SUN-184 A Rare Case of Precocious Puberty Due to Hypothalamic Hamartoma

Abstract Disclosure: T. Mareedu: None. T. Jain: None. P.R. Patel: None. A.J. Augustine: None. N. Koduri: None. G. Palaniswamy: None. B. Padamati: None. S. Iftikhar: None. Background: Hypothalamic hamartomas (HH) are rare, non-neoplastic congenital malformations associated with central precocious puberty (CPP) and gelastic seizures. These lesions are ectopic neuronal masses in the hypothalamus, capable of secreting gonadotropin-releasing hormone (GnRH), leading to early activation of the hypothalamic-pituitary-gonadal axis. Early diagnosis and management are crucial to prevent adverse psychosocial and metabolic consequences.Case Presentation: A 7-year-old male presented with signs of early puberty, including pubic hair development, accelerated growth velocity, and advanced bone age. Clinical examination revealed Tanner stage 3 pubertal development. Biochemical investigations showed elevated luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels, with a testosterone concentration of 277 ng/dL (prepubertal reference <50 ng/dL), confirming a diagnosis of CPP. Thyroid function tests were normal. Brain MRI identified a hypothalamic hamartoma in the tuber cinereum region, consistent with the classic findings of HH-related CPP. Discussion: Hypothalamic hamartomas remain a diagnostic challenge due to their varied presentations, ranging from isolated CPP to epilepsy and cognitive impairments. The pathophysiology involves ectopic GnRH pulsatility, triggering the premature activation of the hypothalamic-pituitary axis. First-line treatment includes GnRH analogs, which effectively suppress pubertal progression and mitigate the psychosocial burden of early puberty. In cases refractory to medical therapy, surgical resection or gamma knife radiosurgery may be considered. Conclusion: This case underscores the importance of early recognition of hypothalamic hamartoma as a cause of precocious puberty. Timely intervention with GnRH analogs is essential to prevent complications such as early epiphyseal closure and psychosocial distress. Given its rarity, heightened clinical suspicion is required to differentiate HH from other causes of early puberty. Presentation: Sunday, July 13, 2025