Central precocious puberty due to hypothalamic hamartoma

Hypothalamic Hamartoma (HH) is a tumor-like, rare congenital non-progressive lesion in the base of the brain, the hypothalamus, arising from the tuber cinereum. This type of lesion is a complex neuroendocrine disease that can cause seizures, behavioral problems, and the main purpose of this study: early onset of puberty. Nearly 95% of Hypothalamic Hamartomas cases are isolated lesions, although an association with Pallister-Hall syndrome has been described. HH occurs in nearly 1 to 100,000 children, with a slight predominance in males, and the lesion has no association to ethnicity. This study aims in finding the consequences of Hypothalamic Hamartomas related to hormonal changes which induce central precocious puberty. This study consists of a Literature Review, gathering pertinent articles and chapters from the last 15 years. The bibliographic research includes articles and chapters written in English, selected according to their relevance. A hypothalamic hamartoma consists of clusters of small neurons mixed with glia and large neurons and is a non-neoplastic mass lesion located in the hypothalamus that can cause gelastic seizures and/or central precocious puberty (CPP). The hypothalamus and pituitary glands are the “master glands” that control the initiation of puberty. The hypothalamus stimulates the pituitary gland to secrete LH and FSH by releasing gonadotropin-releasing hormone (GnRH), that stimulates the gonads to produce sex steroids (estrogen and testosterone) which will lead to physical changes of puberty. Hypothalamic hamartoma lesions may lead to secretion of GnRH before the normal time, escaping the body’s mechanism to inhibit central precocious puberty. Brain MRI (with or without contrast) is the gold standard for diagnosis of HH. To avoid misdiagnosis, the radiologist should be notified to focus on the hypothalamic region. The goal of treatment for CPP in HH is suppression of pubertal maturation and improvement of final height. To suppress puberty, Leuprolide acetate inhibits the release of GnRH that triggers puberty. Although HH can be treated with medication, the gold standard treatment is open surgical resection of the hamartoma, since it provides the best outcome among other options. Central precocious puberty is a consequence of hypothalamic hamartomas. It is a rare, congenital lesion that can lead to severe complications in the future, such as gelastic seizures. Therefore, it should be treated as soon as possible.

Corresponding author: Daniela Lima Nogueira (e-mail: nogueiradani2908@hotmail.com).