Hypothalamic hamartoma: a cause of precocious puberty

Area of Science:

• Pediatric Endocrinology
• Neurology
• Neuroimaging

Background:

• Hypothalamic hamartomas are rare congenital malformations.
• They can manifest as precocious puberty, gelastic seizures, or psychiatric disorders.
• Diagnosis relies on characteristic MRI findings.

Observation:

• A case of a middle childhood girl with a hypothalamic hamartoma is presented.
• She exhibited precocious puberty, confirmed by physical exam, hormonal studies, bone age, and pelvic ultrasound.
• Brain MRI revealed a nodule in the hypothalamic region/tuber cinereum.

Findings:

• The patient was treated with gonadotropin-releasing hormone agonists (GnRHa) and neurosurgical follow-up.
• Treatment led to reversal of secondary sexual characteristics.
• The hamartoma size remained stable during follow-up.

Implications:

• This case highlights the critical role of brain MRI in evaluating suspected precocious puberty.
• Clinical features alone may not identify underlying pathologies like hypothalamic hamartomas.
• Early diagnosis and prompt treatment are essential for managing this condition.