Hypothalamic disease is a group of disorders caused by various factors that impair hypothalamic function, primarily characterized by endocrine dysfunction and autonomic nervous system imbalance.

bubble_chart Etiology

1. Congenital:
   1. Growth hormone deficiency (with or without other hormone deficiencies).
   2. Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) deficiency.
   3. Sexual infantilism-retinitis pigmentosa-polydactyly syndrome (Laurence-Moon-Biedl syndrome).
2. Tumors
   1. Hypothalamic craniopharyngioma, pinealoma, meningioma, optic chiasm glioma, other intracranial tumors.
   2. Pituitary suprasellar tumors.
3. Infections: encephalitis, subcutaneous nodule disease, syphilis.
4. Granulomas: sarcoidosis, Hand-Schüller-Christian disease, eosinophilic granuloma, multisystem granulomatosis.
5. Vascular disorders: postpartum anterior pituitary hypofunction, carotid or intracranial aneurysm, subarachnoid hemorrhage, pituitary apoplexy, cerebral arteriosclerosis, cerebral embolism, cerebral hemorrhage.
6. Mechanical compression: hydrocephalus of various causes.
7. Iatrogenic: radiation therapy, neurosurgery.
8. Trauma: head injury.
9. Functional: neurogenic vomiting, polyphagia, anorexia, amenorrhea, impotence, hypothyroidism, adrenal cortical insufficiency.

bubble_chart Clinical Manifestations

1. Endocrine dysfunction
   1. Insufficient pituitary hormone secretion: Often seen in pituitary stalk injuries caused by various reasons. When the pituitary stalk is blocked, any pituitary hormone except PRL may be deficient or insufficient. Common manifestations include diabetes insipidus and hypogonadism accompanied by hyperprolactinemia. Additionally, it can lead to hypothyroidism, adrenal cortical insufficiency, and reduced secretion of growth hormone (GH). In this group of diseases, baseline measurements and dynamic tests of the corresponding pituitary hormones all show hyposecretion. Administering an appropriate amount of releasing hormones can elicit a good response.
   2. Excessive pituitary hormone secretion: Overproduction of CRH is the disease cause of Cushing's disease. Excessive GHRH secretion leads to acromegaly. Premature secretion of excessive GnRH causes early release of pituitary gonadotropins (Gn), which can result in true precocious puberty. Congenital cystic fibrous osteitis syndrome (Albright syndrome) may be associated with precocious puberty. Increased TRH secretion can lead to hypothalamic hyperthyroidism.
   3. Abnormal rhythmic hormone secretion: The diurnal rhythm of ACTH secretion may disappear due to certain hypothalamic diseases and Cushing's syndrome. Other hormones with diurnal rhythms, such as GH and PRL, and hormones with monthly rhythms, such as LH and FSH, may lose their inherent secretion rhythms due to hypothalamic diseases.
   4. Abnormal pubertal development: Diseases in the posterior hypothalamus can eliminate the inhibitory effect on pituitary Gn secretion, leading to precocious puberty. Conversely, hypothalamic diseases can also cause delayed puberty.
2. Hypothalamic symptoms
   1. Obesity: Due to the loss of function in the satiety center of the ventromedial nucleus, appetite increases, leading to obesity. Obesity can be the prominent and sole manifestation of this condition. In cases of extreme obesity, body weight often continues to increase, though the exact cause of this phenomenon is unclear.
      Prader-Willi syndrome is caused by hypothalamic dysfunction, characterized by significant obesity, polyphagia, diabetes, dull facial expressions, hypogonadism, and small hands and feet. In the syndrome of sexual infantilism, pigmentary retinitis, and polydactyly, obesity is also one of the prominent symptoms.
   2. Anorexia and emaciation: Damage to the lateral hypothalamic feeding center can lead to anorexia and emaciation. In severe cases, it may result in cachexia, muscle weakness, and hair loss. Severe cases may also be accompanied by anterior pituitary insufficiency.
   3. Sleep abnormalities: (1) Narcolepsy, the most common type, with episodes lasting from several minutes to several hours, often irresistible. (2) Hypersomnia can persist for several days to weeks; patients can be awakened to eat or urinate but then fall back asleep. (3) Episodic drowsiness and hyperphagia can last for several hours to days, followed by excessive eating upon waking, often leading to obesity. (4) Persistent nighttime insomnia.
   4. Thermoregulation disorders: Hypothermia is more common than hyperthermia. The degree of hypothalamic hypothermia often depends on environmental humidity. Patients lack normal compensatory mechanisms for cold. Hyperthermia does not respond to antipyretic drugs.
   5. Disorders of water balance regulation: Damage to the supraoptic nucleus can lead to diabetes insipidus. If the hypothalamic thirst center is affected, it may reduce fluid intake, leading to dehydration and elevated serum sodium and chloride levels, which can be corrected by fluid replacement and vasopressin.
3. Other
   1. Headache and visual field defects: Often related to the nature of the hypothalamic disease. Headache and visual field defects caused by hypothalamic diseases are more common than those caused by pituitary diseases.
   2. Behavioral abnormalities: Lesions in the ventrolateral nucleus of the hypothalamus and the preoptic area can lead to behavioral and psychiatric abnormalities. Patients often exhibit reduced motor activity, even sitting motionless all day. These symptoms are frequently accompanied by disorientation, emotional instability, hallucinations, etc.
   3. Autonomic nervous symptoms: profuse sweating or hypohidrosis, cyanosis of the hands and feet, dilated or constricted pupils, or unequal pupil size, unstable blood pressure.

bubble_chart Diagnosis

Hypothalamic diseases have numerous and varied causes, and their manifestations are also diverse, sometimes making diagnosis quite difficult. The disease should only be considered after a detailed medical history is obtained, combined with various examinations, and other related diseases are carefully ruled out. Efforts should be made to identify the specific cause.

Endocrine tests should routinely assess the function of the gonads, thyroid, adrenal glands, and pituitary. When necessary, relevant dynamic tests should be performed to determine the level of dysfunction in the hypothalamic-pituitary-endocrine axis.

X-ray skull films, pneumoencephalography, cerebral angiography, head CT, MRI, cerebrospinal fluid generation and transformation measurements, cytological examinations, and electroencephalography can all be used as appropriate to clarify the diagnosis and identify the cause.

bubble_chart Treatment Measures

1. Disease Cause Treatment: For tumors, surgical resection or radiation therapy can be used. For infections, appropriate antibiotic treatment should be selected.
2. Special Treatments: For conditions like diabetes insipidus, anti-diabetes insipidus medications can be used. For endocrine deficiencies, corresponding hormone replacement therapy can be administered. Galactorrhea can be treated with bromocriptine or milk regurgitation cessation. Amenorrhea may be treated with bromocriptine or artificial cycles as appropriate. For neuropsychiatric symptoms, medications such as diazepam, phenobarbital, or phenytoin sodium can be used.