Froehlich syndrome

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Kemas kini Tarikh 11/05/2020 . 3 minit bacaan
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Definition

What is Froehlich syndrome?

Froehlich syndrome is a constellation of endocrine abnormalities believed to result from damage to the hypothalamus, a part of the brain where certain functions such as sleep cycles and body temperature are regulated.

How common is Froehlich syndrome?

This syndrome appears to affect males mostly. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Froehlich syndrome?

Froehlich syndrome is a rarely encountered condition that occurs mainly in males and is characterized by obesity, small testes, and a delay in the onset of puberty. Development of secondary sexual characteristics and physical growth is also delayed. Children with this syndrome tend to be short in stature. They may have malformed or undersized fingernails, and headaches are common. Some children with Froehlich syndrome may develop mental retardation, difficulties with vision, and in rare cases diabetes mellitus. (For more information on this disorder, choose “Diabetes” as your search term in the Rare Disease Database.)

Other symptoms of the syndrome may include excessive thirst (polydipsia), excessive urination (polyuria), and very delicate skin.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Froehlich syndrome?

Froehlich syndrome appears to be acquired while certain other disorders that resemble it, such as Prader-Willi syndrome, are genetic.

Froehlich syndrome is usually the result of lesions in the hypothalamic gland, the endocrine gland that produces substances that stimulate the pituitary and regulate the appetite. In some cases of Froehlich syndrome, the front portion (anterior) of the pituitary gland fails to secrete the hormones that are necessary for the onset of normal puberty. A diseased area (lesion) in the hypothalamus or pituitary is the usual cause of the syndrome. A tumor of the pituitary that is frequently the cause of damage to the hypothalamus in children and adolescents is an expanding hollow (cystic) lesion (craniopharyngioma).

Inflammation from an infection such as tuberculosis or an acute inflammation of the brain (encephalitis) are other injuries that may be responsible for the lesion and, hence, the condition.

Risk factors

What increases my risk for Froehlich syndrome?

Froehlich syndrome is a very rare condition that affects more males than females.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Froehlich syndrome diagnosed?

Laboratory analysis of the urine from children with Froehlich syndrome typically reveals low levels of pituitary hormones, and that finding may suggest the presence of a lesion on the pituitary. Additional tests are needed before a definite diagnosis of Froehlich syndrome may be made.

How is Froehlich syndrome treated?

Standard Therapies

Pituitary extracts may be administered to replace the missing hormones (hormonal replacement therapy) in patients with Froehlich syndrome. Tumors of the hypothalamus should be surgically removed if possible. Appetite may be very difficult to manage, although weight control depends on this.

Investigational Therapies

Neurosurgeons in Russia have reported good results in the treatment of Froehlich syndrome by means of relatively new stereotactic-planning (3-dimensional) of a transnasal surgical procedure to remove small tumors in the pituitary gland. Because the number of patients involved was small, much more study of this procedure is needed to determine its safety and usefulness in treating individuals affected by Froehlich syndrome.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Froehlich syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

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