Froehlich Syndrome: Causes, Symptoms & Treatment

Fröhlich syndrome is very rare and is caused by a hypothalamic tumor. This causes a hormone imbalance that upsets some regulatory mechanisms in the body. There is no cure for this disorder.

What is Fröhlich syndrome?

Fröhlich syndrome is primarily characterized by severe obesity with female fat distribution type and short stature. There is also severe polyuria with insatiable thirst. Depending on the onset of the disease, the development of sexual maturity of the affected person is impaired. In the congenital form of the disease, there is a decreased intelligence quotient. In the majority of cases, males are affected. Other names for this syndrome are hypothalamic syndrome, dystrophia adiposogenitalis or Babinski-Fröhlich syndrome. It is a very rare endocrine disorder. It can exist since birth or develop later. The starting point of this disease is a tumor of the hypothalamus, which also affects the hormone production of the pituitary gland (hypophysis). At least in part, a genetic component of Fröhlich syndrome is also suspected.

Causes

The cause of the symptoms in Fröhlich syndrome is a tumor of the hypothalamus with a mass extending to the pituitary gland (hypophysis). The condition is very rare and closely related to the particular location of the tumor. This location affects the function of both the hypothalamus and the pituitary gland. The hypothalamus is part of the autonomic nervous system and its most important central control point. Here there are various homeostatic control circuits that maintain the balance of the internal environment in the body. This allows the organism to adapt well to external and internal stresses. It has been found that even the smallest disturbances in this area have a great influence on the viability of the organism. For example, the hypothalamus has, among other things, the task of maintaining the balance (homeostasis) between body temperature, blood pressure and osmolarity, regulating food and water intake, biological rhythm and sleep, and controlling reproductive and sexual behavior. Various regulatory hormones of the hypothalamus are responsible for this. These hormones include TRH (thyrotropin-releasing hormone), CRH (corticotropin-releasing hormone), GNrH (gonadotropin-releasing hormone), GHRH (growth hormone-releasing hormone) or somatostatin (growth hormone-inhibiting hormone). All these hormones regulate the formation or inhibition of certain hormones with specific tasks. For example, TRH controls the formation of thyroid hormones in the thyroid gland. CRH is responsible for the formation of cortisol, the sex hormones and aldosterone in the adrenal cortex. GRnH controls the production of LH and FSH, which in turn are responsible for gonadal growth and maturation of sperm and eggs. While GHRH promotes the release of growth hormone, somastatin inhibits its release. In addition to the hormones mentioned above, prolactin and vasopressin are stored in the hypothalamus. Prolactin controls milk production in the mammary glands. Vasopressin is responsible for the balanced water balance in the organism by regulating the excretion of water through urine via control processes. The hypothalamus also controls the production of the hormone leptin, which causes the feeling of satiety. Leptin is usually secreted when fat tissue increases, so that a feeling of satiety occurs when the body is in a good nutritional state. This complicated regulatory system may explain why the typical symptoms of Fröhlich syndrome can develop when there is a mass in the area of the hypothalamus that also affects the pituitary gland at the same time.

Symptoms, complaints, and signs

Typical Fröhlich syndrome is characterized by such symptoms as marked obesity with a female fat distribution pattern, short stature, intelligence deficits, and underdevelopment of the gonads. Food intake is greatly increased due to the lack of formation of a sense of satiety. Puberty is delayed or absent. Furthermore, visual disturbances, headaches and polyuria occur. Polyuria may progress to extreme diabetes insipides. In the extreme forms of diabetes insipides, the body can lose up to 20 liters of water daily, which of course must be compensated for by drinking.Patients thus suffer from constant feelings of thirst and hunger. Diabetes insipides is caused by a deficiency of the hormone vasopressin. Vasopressin is stored in the hypothalamus and released when needed. The disturbance of the feeling of satiety is caused by the dysregulation of the production of the hormone leptin. There is a lack of leptin, which leads to a constant feeling of hunger. The secretion of sex hormones is also reduced, so that maturation of the gonads cannot occur. The short stature is due to a lack of growth hormone, which is caused by the increased production of somastatin. If the disease does not occur until adulthood, the already formed gonads regress. This can lead to infertility.

Diagnosis

Already on the basis of the symptoms of the disease, the physician can often make a tentative diagnosis of Fröhlich syndrome. Imaging such as CT can confirm a hypothalamic tumor.

Complications

Unfortunately, Fröhlich syndrome is not curable. Short stature and obesity occur in most cases. Children in particular can suffer greatly from Fröhlich syndrome, as they are teased and bullied because of the symptoms. This leads to social restrictions and psychological problems. In most affected individuals, puberty is completely absent. Also, food intake is increased because the feeling of satiety is not present. Due to the obesity, diabetes often develops. Fröhlich syndrome has a negative effect on vision and at the same time leads to severe headaches. The patient’s everyday life is considerably restricted. Due to the suspension of puberty, sexual hormones are also not secreted. It is not possible to treat or completely cure Fröhlich syndrome. The treatment is mainly aimed at reducing the symptoms of obesity and reducing the weight. In many cases, this results in a positive course of the disease. Life expectancy is reduced due to obesity. Complications of the heart and lungs may occur. Surgical interventions can treat the short stature, although a complete cure is not possible. Usually, the patient must live with the symptoms for the rest of his or her life.

When should you see a doctor?

If severe weight gain occurs without a comprehensible and explainable reason, a doctor should be consulted. If there is no decrease in weight despite dieting and a normal food intake, the observations should be discussed with a physician. If a feeling of satiety does not occur or if there are repeated severe fluctuations in weight, this should be discussed with a physician. A noticeable short stature is always considered unusual and should be investigated. Parents who notice reduced intelligence in their child in direct observation and comparison with children of the same age should have this clarified by a physician. An unusually strong urge for liquids is also considered cause to talk to a doctor. In case of persistent headaches, a feeling of pressure inside the head or disturbances of the eyesight, a visit to the doctor is necessary. If, despite all efforts, the desire to have a child remains unfulfilled, a check-up with a doctor is advisable. If the affected person suffers from emotional or mental impairments, it is advisable to ask a doctor or therapist for support. A depressed mood, social withdrawal or loss of zest for life are considered worrisome and should be clarified. If there is a reduced performance capacity or if professional as well as private obligations can no longer be fulfilled, a visit to the doctor is necessary.

Treatment and therapy

A causal treatment of Fröhlich syndrome is currently not yet possible. Therapy must be merely symptomatic. This includes promotion of mental development and control of eating behavior through psychotherapeutic measures. Weight reduction should also be aimed at through dietary measures. Due to the disproportion of growth hormone and sex hormone, growth disorders occur, which in individual cases may require surgical intervention.

Outlook and prognosis

Regardless of whether symptomatic treatment is given or not, Fröhlich syndrome is not curable. Thus, all symptoms persist for the rest of life.However, by treating the symptoms, the course of the disease can be mitigated, leading to a better prognosis in terms of quality of life. This applies in particular to lifestyle medically indicated interventions in the event of imminent damage to the organs. For example, short stature can be countered with orthopedic measures. Malpositions of joints and bones (especially common in the thigh area) can usually be corrected. In this way, postural defects and discomfort can be attenuated. In addition, the increased risk of developing diabetes can be countered with weight reduction. Overall, the quality of life is better in people with Fröhlich syndrome who develop only latent overweight. The overall prognosis varies from case to case. In principle, controlled eating behavior is associated with fewer complications than uncontrolled eating behavior. In addition, those affected can be and remain socially active thanks to supportive measures. However, in most cases it is the case that those affected are infertile. Accordingly, the desire to have children remains denied. This is especially true if Fröhlich syndrome has been present since birth.

Prevention

There are currently no measures to prevent Fröhlich syndrome. The causes of hypothalamic tumors are largely unknown. Only symptomatic treatment of individual symptoms of this disorder, such as extreme obesity, can prevent further sequelae.

Follow-up

There are usually no special aftercare options available to the affected person with Fröhlich syndrome. First and foremost, direct medical treatment is necessary to remove the tumor, although a complete cure is not possible. Possibly, therefore, the life expectancy of the affected person is also limited by the syndrome. The earlier the syndrome is detected, the better the further prognosis. The treatment of Fröhlich syndrome can only be purely symptomatic, since a causal treatment is not possible. Physiotherapy measures can be used to increase the movement of the affected person again. In many cases, the exercises from this therapy can also be performed at home to accelerate healing. Some complaints can only be treated by surgical intervention. After such an operation, the affected person must always take it easy and rest his body. Exertion should therefore always be avoided, and stressful situations should also be avoided as far as possible. Not infrequently, the parents of affected children are also dependent on psychological treatment, and support from their own family and friends is particularly useful.

What you can do yourself

Patients of Fröhlich syndrome can optimize their weight by regulating their food intake. It is helpful if your own weight is within the normal range of BMI. With a diet rich in vitamins and balanced, as well as adequate exercise, a reduction in excess weight can occur. It is recommended to create an overview of the planned food intake per day. At the same time, keeping a daily diary in which all the food consumed, from meals to snacks or sweets, is documented has proven to be effective. Since the sufferers of Fröhlich syndrome may have reduced cognitive abilities, in these cases a caregiver should have an overview of the daily routines and structure. This can ensure that the patient does not additionally obtain foods that are not beneficial to his or her health without awareness of the consequences. To avoid social isolation, relatives should encourage and support contact with other children. Exchanges with other sufferers as well as their relatives may be found helpful. Hints and tips on how to deal with Fröhlich syndrome in everyday life can be given to each other. This improves the quality of life and general well-being. In addition, relaxation techniques for coping with stress have proven effective. These can be carried out together with the patient within the scope of possibilities.