Abstract
Hypothalamic hamartoma (HH) is a rare, congenital, and benign lesion of the tuber cinereum, typically presenting with central precocious puberty (CPP), gelastic seizure, and developmental delay. This study aimed to investigate CPP in HH patients and compare clinical features between before and after gonadotropin-releasing hormone (GnRH) agonist treatment. A total of 30 HH patients under 18 years of age who visited Severance Children’s Hospital between January 2005 and May 2020 were retrospectively reviewed. Fourteen patients were male (46.7%) and sixteen (53.3%) were female, with a mean age at diagnosis was4.2 ± 2.9 years. During follow-up, 24 patients (80.0%) were diagnosed with CPP, 15 patients (50.0%) had gelastic seizure, and 13 patients (43.3%) had developmental delay. The gelastic seizure was significantly associated with sessile type HH rather than pedunculated type HH (85.7% vs. 18.8%, p = 0.001). After GnRH agonist treatment, discrepancies between bone age and chronological age decreased (3.3 ± 1.3 years to 2.0 ± 1.7 years, p = 0.002). Additionally, height standard deviation score for bone age was increased, and predicted adult height increased significantly in females, while males showed an increasing trend. Clinical symptoms of HH were closely associated with the location of HH, and GnRH agonist treatment was safe and effective in the management of CPP caused by HH.
Highlights
Hypothalamic hamartoma (HH) is a rare, congenital, and benign lesion of the tuber cinereum
The pathophysiology of hypothalamus–pituitary–gonadal axis activation is not completely understood, but central precocious puberty (CPP) in HH patients is well managed by treatment with a gonadotropinreleasing hormone (GnRH) agonist [12,13]
As antiepileptic drugs are frequently unsuccessful in seizures associated with HH, surgical intervention is often considered in intractable epilepsy [4,16]
Summary
Hypothalamic hamartoma (HH) is a rare, congenital, and benign lesion of the tuber cinereum. The majority of HH is located at the base of the hypothalamus and the floor of the third ventricle [5] It is usually diagnosed by brain magnetic resonance imaging (MRI) scans and is seen as non-enhancing, isointense, or hyperintense lesions on T2-weighted images [6,7]. HH is a complex neuroendocrine disease that usually first presents with one of the three following main symptoms; central precocious puberty (CPP), gelastic seizure, or developmental delay [8,9]. Behavioral and cognitive disorders are often accompanied in HH patients with seizure events, resulting in developmental delay and diverse psychological problems [2,17]
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