Hypothalamic hamartoma: a cause of precocious puberty

Abstract

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.

Central Precocious Puberty in a Chinese Girl with cblC-Type Methylmalonic Acidemia: a case report

“…Approximately 75%-90% of CPP cases in girls are primary, while 40%-75% of CPP cases in boys are associated with cranial diseases [14,15] . Researchers have demonstrated that the risk of CPP in children with neurological disease is 20 times higher than that in healthy children (Figure 3C) [16][17] . Encephalic organic diseases may cause CPP by inhibiting GnRH synthesis or by increasing intracranial pressure affecting the hypothalamus or pituitary [18] .…”