Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity
| Autor: | John F. Kerrigan, Victor S. Harrison, Oliver J. Oatman |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
medicine.medical_specialty Drug Resistant Epilepsy Hamartoma Hypothalamus Puberty Precocious 030209 endocrinology & metabolism Gonadotropin-releasing hormone Comorbidity Endocrine System Diseases Article Growth hormone deficiency Gonadotropin-Releasing Hormone 03 medical and health sciences Epilepsy 0302 clinical medicine Hypothalamic hamartoma Internal medicine Gelastic seizure medicine Precocious puberty Endocrine system Humans Child gamma-Aminobutyric Acid business.industry Infant Transforming Growth Factor alpha medicine.disease Endocrinology Neurology Child Preschool Diabetes insipidus Hormones Ectopic Female Neurology (clinical) Epilepsies Partial medicine.symptom Nerve Net business 030217 neurology & neurosurgery Hypothalamic Diseases |
| Popis: | Summary The most common, and usually the only, endocrine disturbance in patients with hypothalamic hamartoma (HH) and epilepsy is central precocious puberty (CPP). The mechanism for CPP associated with HH may relate to ectopic generation and pulsatile release of gonadotropin-releasing hormone (GnRH) from the HH, but this remains an unproven hypothesis. Possible regulators of GnRH release that are intrinsic to HH tissue include the following: (1) glial factors (such as transforming growth factor α[TGFα) and (2) γ-aminobutyric acid (GABA)–mediated excitation. Both are known to be present in surgically-resected HH tissue, but are present in patients with and without a history of CPP, suggesting the possibility that symptoms related to HH are directly associated with the region of anatomic attachment of the HH to the hypothalamus, which determines functional network connections, rather than to differences in HH tissue expression or pathophysiology. CPP associated with HH presents with isosexual development prior to the age of 8 years in girls and 9 years in boys. It is not uncommon for CPP with HH to present in children at an earlier age in comparison to other causes of CPP, including in infancy. Surgical resection of the HH can be effective for treating CPP, but is reserved for patients with intractable epilepsy, since GnRH agonists are widely available and effective treatment. Other endocrine disturbances with HH are rare, but can include growth hormone deficiency, hypothyroidism, and adrenal insufficiency. Diabetes insipidus is commonly encountered postoperatively, but is not observed with HH prior to surgical intervention. |
| Databáze: | OpenAIRE |
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