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Hypothalamic Dysfunction


Presentation

  • Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality.[ncbi.nlm.nih.gov]
  • The present cases are unique in that the patients also had bilaterally dilated unresponsive pupils.[ncbi.nlm.nih.gov]
  • At age 19 she presented with serum sodium of 185 mg/dl during an episode of illness associated with dehydration. After hydration, her sodium remained elevated.[ncbi.nlm.nih.gov]
  • Congenital central hypoventilation syndrome (CCHS) is a rare disorder with uncertain nosology that usually presents early in life.[ncbi.nlm.nih.gov]
  • Hyperprolactinemia (with prolactin levels up to 70 ng/ml) was present in all of the nine patients so tested.[ncbi.nlm.nih.gov]
Hypothermia
  • Hypothermia due to hypothalamic dysfunction can result in several systemic complications with complete recovery of all symptoms by rewarming.[ncbi.nlm.nih.gov]
  • We report the case of a 9-year-old girl with multiple problems due to hypothalamic dysfunction of obscure origin: apnoeic spells, behavioural problems, developmental delay, hypodipsia with bouts of hypernatraemia, episodes of spontaneous hypothermia,[ncbi.nlm.nih.gov]
  • Patient V. developed hyperphagia, hypersomnia, and extreme aggression at age 7 years, accompanied by episodes of hyperthermia, hypothermia, sinus bradycardia, hypernatremia, hyponatremia, persistent hyperprolactinemia, hypothyroidism, and growth-hormone[ncbi.nlm.nih.gov]
  • Recurrent hypothermia, hypersomnolence, central sleep apnea, hypodipsia, hypernatremia, hypothyroidism, hyperprolactinemia, and growth hormone deficiency in a boy – treatment with clomopramine. Acta Endocrinol Suppl (Copenh) 279:468-72, 1986.[rarediseases.org]
  • Gurewitz R, Blum I, Lavie P et al. (1986) Recurrant hypothermia, hypersomnolence, central sleep apnea, hypodipsia, hypernatremia, hypothyroidism, hyperprolactinemia and growth hormone deficiency in a boy - treatment with clomopramine In: Illig R, Visser[link.springer.com]
Male Hypogonadism
  • Measurement of the serum testosterone concentration is usually the most important single diagnostic test for male hypogonadism because a low value usually indicates hypogonadism.[aetna.com]
Motor Disturbances
  • Huntington's disease (HD) is a hereditary neurodegenerative disorder characterized by cognitive, psychiatric, behavioural and motor disturbances.[ncbi.nlm.nih.gov]

Workup

  • In conclusion, the workup for amenorrhea should be comprehensive, and if dual features of HA and PCOS manifest in the assessment, the treatment plan should incorporate aspects that address both.[haveababy.com]
  • It is more likely that hospitalists will encounter an incidental finding of a pituitary lesion during workup for other reasons.[clinicaladvisor.com]
Hyperprolactinemia
  • At age 6 years the reported patients presented with precocious puberty, by age 12 years she had hypernatremia presumed secondary to central diabetes insipidus and was treated with DDAVP, and at age 14 was identified to have hyperprolactinemia.[ncbi.nlm.nih.gov]
  • Hyperprolactinemia (with prolactin levels up to 70 ng/ml) was present in all of the nine patients so tested.[ncbi.nlm.nih.gov]
  • Patient V. developed hyperphagia, hypersomnia, and extreme aggression at age 7 years, accompanied by episodes of hyperthermia, hypothermia, sinus bradycardia, hypernatremia, hyponatremia, persistent hyperprolactinemia, hypothyroidism, and growth-hormone[ncbi.nlm.nih.gov]
  • E23.3 pituitary E23.3 (gland) Dyspituitarism E23.3 Overactive - see also Hyperfunction hypothalamus E23.3 Renon-Delille syndrome E23.3 ICD-10-CM Codes Adjacent To E23.3 E22 Hyperfunction of pituitary gland E22.0 Acromegaly and pituitary gigantism E22.1 Hyperprolactinemia[icd10data.com]
  • Recurrent hypothermia, hypersomnolence, central sleep apnea, hypodipsia, hypernatremia, hypothyroidism, hyperprolactinemia, and growth hormone deficiency in a boy – treatment with clomopramine. Acta Endocrinol Suppl (Copenh) 279:468-72, 1986.[rarediseases.org]

Treatment

  • Peak plasma PRL levels during TRH tests were significantly higher before treatment, but returned to the control levels during treatment. Nadir plasma PRL levels during levodopa tests were significantly increased before and during treatment.[ncbi.nlm.nih.gov]
  • No successful treatment has been reported.[ncbi.nlm.nih.gov]
  • It is concluded that bromocriptine may be useful in the treatment of post-prandial hypoglycaemic symptoms associated with hypothalamic dysfunction.[ncbi.nlm.nih.gov]
  • Treatment - Hypothalamic dysfunction Treatment depends on the cause of the hypothalamic dysfunction.[checkorphan.org]

Prognosis

  • These tumors of the sympathetic nervous system (TSNS) are usually differentiated and do not significantly worsen the prognosis. We report a familial case with recurrence in siblings.[ncbi.nlm.nih.gov]
  • Diagnosis - Hypothalamic dysfunction Home medical testing related to Hypotelorism - cleft palate - hypospadias: Cold & Flu: Home Testing: Home Fever Tests Home Ear Infection Tests Home Flu Tests Prognosis - Hypothalamic dysfunction Many causes of hypothalamic[checkorphan.org]
  • Prognosis The prognosis for most patients with hypopituitarism is excellent. As long as therapy is continued, many experience normal life spans.[medical-dictionary.thefreedictionary.com]
  • Treatment and prognosis Embolization or microsurgery, as independent or synergistic treatments, may be curative in a minority of patients.[radiopaedia.org]
  • Prognosis [ 8 ] This depends on the underlying cause. In women microprolactinomas spontaneously resolve in around a third, especially after the menopause or pregnancy. Treatment should be discontinued intermittently to see if it is still needed.[patient.info]

Etiology

  • Specifically, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and congenital central hypoventilation syndrome (CCHS) are distinct in presentation, pathophysiology, and etiology.[ncbi.nlm.nih.gov]
  • Possible etiologies are discussed.[ncbi.nlm.nih.gov]
  • Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare disease of unknown etiology, characterized by rapid-onset obesity in young children, hypoventilation, hypothalamic and autonomic dysfunction[ncbi.nlm.nih.gov]
  • Earlier theories of weight loss, decreased body fat, or exercise do not fully explain the etiology of amenorrhea in anorexia nervosa.[ncbi.nlm.nih.gov]
  • Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality.[ncbi.nlm.nih.gov]

Epidemiology

  • Epidemiology Prevalence Hyperprolactinaemia is a relatively common problem and appears to be increasing. The prevalence of hyperprolactinaemia in a recent UK study was 0.23% [ 5 ] .[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • Recent literature in ROHHAD has included case reports with new findings that may provide insight into pathophysiology involving possible aberrant immune process and dysregulation at the level of the orexinergic system.[ncbi.nlm.nih.gov]
  • We discuss the literature on the pathophysiological consequences of hypothermia, referring to several medical databases (Cochrane, SUMSearch, Trip database, and PubMed).[ncbi.nlm.nih.gov]
  • Recent reports have identified a similar clinical presentation beyond infancy called late-onset central hypoventilation syndrome (LO-CHS) as a disease continuum of CCHS with similar and overlapping pathophysiology.[ncbi.nlm.nih.gov]
  • […] inflammatory processes are the main drivers of these cellular dysfunctions or if the hypothalamic hormone resistance (insulin, leptin, and ghrelin) can be pinpointed as the source of several of these events.Understanding the mechanisms that underlie the pathophysiology[ncbi.nlm.nih.gov]
  • The pathophysiology of the condition is unknown.[ncbi.nlm.nih.gov]

Prevention

  • All of the hypothalamic changes induced by a high-fat diet appear to be causally linked and inhibitors of inflammation, ER stress and autophagy defect can prevent or reverse the development of obesity pointing to potential drug targets in the prevention[ncbi.nlm.nih.gov]
  • - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis[medicbind.com]
  • […] resistance (insulin, leptin, and ghrelin) can be pinpointed as the source of several of these events.Understanding the mechanisms that underlie the pathophysiology of obesity in the hypothalamus is crucial for the development of strategies that can prevent[ncbi.nlm.nih.gov]
  • Prevention - Hypothalamic dysfunction Not supplied.[checkorphan.org]
  • Prevention There is no known prevention of hypopituitarism, except for prevention of damage to the pituitary/hypothalamic area from injury. Key terms Adenoma — A benign (not threatening or cancerous) tumor that originates in a gland.[medical-dictionary.thefreedictionary.com]

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