Rare Endocrinology News

Disease Profile

Hypothalamic obesity

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Froelich's adiposity; Froelich's syndrome; Froehlich syndrome;

Summary

Hypothalamic obesity refers to obesity that is caused by physical or inborn damage to the hypothalamus. The hypothalamus is part of the brain that makes hormones that control specific body functions such as sleep, body temperature, and hunger. It also makes hormones that control other organs in the body, especially the pituitary gland. The symptoms of hypothalamic obesity vary by the cause and include uncontrollable hunger, rapid, excessive weight gain, and a low metabolic rate. If the pituitary gland is involved, symptoms may include small underdeveloped testes in males and delayed puberty. This condition most often occurs because of injury to the hypothalamus due to a tumor, swelling in the brain, brain surgery, or head trauma. The diagnosis is made by physical examination and review of the symptoms. There is no cure for hypothalamic obesity. Treatment involves a combination of surgery, medications, and nutritional and lifestyle counseling. The long-term outlook for people with this condition is dependent on weight loss and management.[1][2][3]

Symptoms

Signs and symptoms of hypothalamic obesity include excessive appetite, inability to feel ‘full’, and rapid weight gain.[3] In addition, people with this condition have a low metabolic rate, decreased physical activity, and excessive daytime sleepiness.[3] Depending on the cause, some people with this condition will have issues related to the sex hormones, such as delayed puberty and infertility. Other symptoms can include attention deficit hyperactivity disorder (ADHD), seizures, and psychiatric conditions.[1][3]

Cause

Hypothalamic obesity is caused by injury to the hypothalamus. The most common cause is related to a rare non-cancerous tumor called a craniopharyngioma.[2][3] When this tumor is removed, the hypothalamus can get damaged leading to the symptoms of hypothalamic obesity. Other causes for hypothalamic obesity include other rare tumors, head trauma, swelling in the brain and being born with a brain malformation.[2] Certain genetic syndromes also include symptoms of hypothalamic obesity.

Diagnosis

The diagnosis of hypothalamic obesity is made based on the symptoms which include a sudden onset of excessive hunger and weight gain after trauma or brain surgery. Testing for specific hormone levels can also help with diagnosis and guide treatment.[1]

Treatment

There is not one specific treatment for hypothalamic obesity. The goal of treatment in general is to promote weight loss and control hunger. Most people with this condition are treated with a combination of gastric surgery, medications, and nutritional and lifestyle counseling.[3][4]

Many of the medications used to treat hypothalamic obesity are also used to treat type 2 diabetes. These include metformin, octreotide, and GLP1 receptor agonists. Other medications include stimulants and hormonal treatments. Nutritional and lifestyle counseling can also help with weight management.[3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

        References

        1. Froelich syndrome. National Organization for Rare Disorders (NORD). 2004; https://rarediseases.org/rare-diseases/froelichs-syndrome/. Accessed 1/4/2019.
        2. Bereket A, Kiess W, Lustig RH, Muller HL, et al. Hypothalamic obesity in children. Obes Rev. Sept 2012; 13(9):780-98. https://www.ncbi.nlm.nih.gov/pubmed/22577758.
        3. Haliloglu B, Bereket A. Hypothalamic obesity in children: pathophysiology to clinical management. J Pediatr Endocrin Metab. May 2015; 28(5-6):503-13. https://www.ncbi.nlm.nih.gov/pubmed/25781673.
        4. Rose SR, Horne VE, Bingham N, Jenkins T, Black J and Inge T. Hypothalamic obesity: 4 years of the International Registry of Hypothalamic Obesity Disorders. Obesity. 2018; 26(11):1727-1732. https://www.ncbi.nlm.nih.gov/pubmed/30296362.

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