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Hypothalamic hamartoma: a cause of precocious puberty
  1. Carolina Castro1,
  2. Joana Machado Morais1,
  3. Ana Luísa Correia1 and
  4. Filipa Espada2
  1. 1Pediatrics, Hospital Pedro Hispano, Matosinhos, Portugal
  2. 2Paediatric Endocrinology, Hospital Pedro Hispano, Matosinhos, Portugal
  1. Correspondence to Dr Carolina Castro; carolina.coelhodecastro{at}


Hypothalamic hamartomas are uncommon congenital malformations that present as precocious puberty, gelastic seizures and/or psychiatric disorders. Characteristic changes in MRI scans lead to a diagnosis. Treatment may include surgery or gonadotropin-releasing hormone agonists (GnRHa) depending on clinical manifestations.

Here, we describe a case of hypothalamic hamartoma diagnosed in a girl in middle childhood, who presented with early development of secondary sexual characteristics. Physical examination, hormonal study, bone age and pelvic ultrasound findings were consistent with those of precocious puberty. The investigation also included a brain MRI scan, which revealed a small nodule with regular limits in the left hypothalamic region/tuber cinereum. GnRHa treatment and neurosurgical follow-ups were initiated promptly. The patient showed a reversal of secondary sexual characteristics and stable hamartoma size. This case illustrates the importance of brain MRI scans as part of the assessment of suspected precocious puberty because clinical features do not identify patients with an underlying pathology.

  • Congenital disorders
  • Medical management
  • Neuroendocrinology
  • Neuroimaging

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  • Contributors CC wrote the first draft of the manuscript. JMM and ALC were responsible for the bibliographical search and critical revision. FE was involved in patient care and undertook an extensive critical review of the manuscript, but all authors together conceptualised the idea and approved the submission of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.