Adiposogenital dystrophy

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at September 6, 2016
StartDiseasesAdiposogenital dystrophy

One of the rarest disorders of the endocrine system is adiposogenital dystrophy, also known as Froelich's syndrome. This condition is not considered to be genetic, but rather a condition acquired from other factors that can occur within the brain at any time. It is known by a variety of other names such as Babinski-Froelich syndrome, sexual infantilism.

Contents

Definition & Facts

The endocrine system is an integral part of regulating metabolism. It also regulates important hormones in the brain that keep weight within normal limits. A rare disease, adiposogenital dystrophy affects the endocrine system in many negative ways.

Those who have this condition not only experience delayed puberty but can also have delayed sexual development (secondary sexual characteristics), shrinking of the sex organs such as gonads, and overall diminished growth. Froelich's syndrome is more common in boys than in girls. It occurs in childhood or adolescence most often.

Symptoms & Complaints

There is an extensive list of symptoms associated with this disorder. It is characterized by obesity, delayed puberty and short height. Those who have this condition have increased appetite, which is why obesity is a factor.

When puberty is delayed, there may also be underdeveloped testicles or ovaries. Other symptoms that occur with adiposogenital dystrophy include abnormal fingernails, headaches, easily sunburned skin, low blood sugar, frequent urination, low blood pressure, excessive thirst, and low body temperatures. Children who have this disorder may also have diabetes, impaired vision, and mental retardation.

Causes

The most common cause of Froelich's syndrome is tumor growth near the pituitary gland and the hypothalamus. It is the job of the hypothalamus to aid the pituitary gland in the functioning of the body's metabolism.

When any type of growth or lesion causes the hypothalamus or pituitary gland to be inflamed, it causes major malfunctions in the endocrine system. Although less common, brain injuries can also cause the disorder. Infectious diseases such as encephalitis and tuberculosis can also cause adiposogenital dystrophy.

Diagnosis & Tests

Since it is rare, this disorder can be difficult to diagnose. First, doctors must determine that the symptoms experienced by teenage boys is not the result of Prader-Willi syndrome. This disorder is a genetic condition that causes symptoms very similar to Froelich's syndrome.

Doctors typically begin by taking a detailed medical history and family history of the patient. After the history is taken, doctors perform a full physical examination. Diagnostic tests such as urinalysis often reveals low levels of the hormones excreted by the pituitary glands. In addition to urinalysis, doctors often order a battery of blood tests to test levels of growth hormone (GH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin, and thyroid-stimulating hormone (TSH).

Diagnostic imaging tests such as a computed tomography (CT) scan or magnetic resonance imaging (MRI) of the brain. These tests can give doctors a look at any growths, lesions or tumors that may be present in the brain.

Some children appear to have Froelich's Syndrome because they have delayed sexual development and are overweight. However, many of these children will test negative for disturbances within the endocrine system. If hormone levels are normal, the diagnosis for this disorder cannot be made.

Treatment & Therapy

The level of treatment of adiposogenital dystrophy depends on the severity of symptoms in each patient. For this reason, treatment plans are developed on an individual basis. If a tumor or lesion is present in the brain, surgery may be necessary to remove it.

Most pituitary tumors are removed through the paranasal sinuses. A small incision is made in the far wall of the nose, giving doctors access to the tumor through the sinus cavity. The risks of this surgery are small and the recovery time is fairly short.

Doctors can also use hormone replacement therapy to diminish the negative effects on the patient's endocrine system. This means doctors prescribe medication to replace the hormones missing in the pituitary gland.

One characteristic of this disorder is obesity and rapid weight gain. Doctors can place the patient on a diet and exercise program, to help bring weight within normal limits. If this is not effective, doctors may perform bariatric surgeries like gastric bypass surgery or adjustable gastric banding.

Prevention & Prophylaxis

In those who have developed this condition as a result of a tumor, the surgical removal can resolve symptoms almost immediately. However, it may still take time for patients to bring their body weight within normal limits.

According to the United States Department of Health and Human Services, there have been no known deaths reported as a result of Froelich's syndrome. It is difficult to be sure because it is a rare condition that is commonly misdiagnosed.

Those who have been diagnosed with this condition may benefit from counseling or psychotherapy even after treatment has ended. Since it affects primarily adolescent boys, the negative effects of this condition can be very difficult to deal with emotionally. It is even more difficult for these patients if there are sexual issues resulting from this disorder.

There are organizations to help people cope with this condition. The Hormone Foundation, The Pituitary Network Association and The Pituitary Society are just a few who can help.

Obtaining a diagnosis early can help reduce the negative effects this condition can have on children and teenagers. For most families, the diagnosis is a relief after spending months or even years of frustration to obtain an accurate diagnosis.