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Syndromes in epiphysis pathology
Last reviewed: 04.07.2025
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Disruption of puberty in humans due to tumors of the pineal gland was one of the first indications of the endocrine role of this organ.
Premature sexual and somatic development also occurs in congenital hypoplasia or aplasia of the pineal gland. Tumors of this gland account for less than 1% of all intracranial neoplasms. There are three types of pineal tumors: pinealomas (tumors originating from the parenchymatous cells of the organ and occurring in 20% of its neoplasms), glial tumors (25% of pineal tumors), and germinomas (the most common tumors of this organ). The latter are also called teratomas, and if they occur outside the pineal gland, ectopic pinealomas. They develop from germ cells that did not reach their normal location in the sex glands during embryogenesis and are similar in structure and function to tumors originating from the germ cells of the ovaries and testes.
Tumors of this type usually grow into the walls of the third ventricle and into the hypothalamus, causing a characteristic triad of symptoms: optic nerve atrophy, diabetes insipidus, and hypogonadism. Tumor masses can compress the aqueduct of Sylvius, resulting in internal hydrocephalus with severe headaches, vomiting, optic nerve papilla edema, and impaired consciousness. Pressure on the superior colliculus in some cases causes Parinaud's syndrome (combined upward gaze paralysis), and pressure on the cerebellum or brainstem causes gait disturbance. In rare cases, hypothalamic symptoms come to the forefront of the clinical picture of the disease: changes in thermoregulation, hyperphagia, or anorexia. Even more rarely, germinomas spread to the sella turcica and manifest themselves as symptoms of pituitary tumors.
Premature puberty actually occurs in only a small percentage of cases of pineal gland tumors, mainly when they significantly extend beyond the organ (Pellizzi syndrome). The fact that nonparenchymatous tumors of the pineal gland are more often accompanied by precocious puberty than parenchymatous tumors supports the idea of the production by the pineal gland of a factor that inhibits the production of gonadotropins and delays the onset of puberty. When pinealocytes are destroyed by a nonparenchymatous tumor, the production of this factor is probably reduced, the gonadotropic function of the pituitary gland is disinhibited, and puberty occurs earlier than usual. In other pineal gland tumors, which are probably accompanied by excessive production of this factor, on the contrary, there is a delay in puberty. However, in such cases, it has not yet been possible to detect an increase in the level of melatonin in the blood.
Symptoms of pineal gland tumors usually appear late, and clinical diagnosis is usually established at a stage when the tumor is inoperable. Radiation therapy is used, which is especially effective in cases of terminoma.