Adiposogenital dystrophy overview
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Differentiating Adiposogenital dystrophy from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Ogechukwu Hannah Nnabude, MD
Overview
Historical perspective
Harvey Williams Cushing named the condition Fröhlich syndrome after Alfred Fröhlich. French nationals Dr. Jean Camus (1872–1924) and Dr. Gustave Roussy (1874–1948) first undertook systematic and controlled observations of the effects of localized injuries to the basal hypothalamus in dogs and cats. Their observations led them to claim that both permanent polyuria and adiposogenital dystrophy are symptoms caused by damage to the ITR.
Classification
There is no established system for the classification of adiposogenital dystrophy.
Pathogenesis
The pathogenesis of adiposogenital dystrophy is believed to result from damage to the hypothalamus which links the nervous system to the endocrine system through the pituitary gland. This leads to a disruption of hormone production.
Causes
There are various types of lesion that can lead to adiposogenital dystrophy, most of which result from an injury of a part of the arcuate nucleus and ventromedial nuclei of the hypothalamus. Deep brain stimulation has also been seen to produce similar symptoms in patients with Parkinson's disease.
Differentiating adiposogenital dystrophy from other conditions
Other diseases such as Prader-Willi syndrome, Bardet-Biedl syndrome, Klinefelter's syndrome and Borjeson syndrome can cause polyphagia, obesity, and a delayed puberty. Proper testing can be used to differentiate these diseases from adiposogenital dystrophy.
Epidemiology and Demographics
The prevalence of adiposogenital dystrophy is currently unknown, however, it is more commonly seen in males.
Risk factors
Common risk factors in the development of adiposogenital dystrophy are male sex, hypothalamic tumors, infectious, autoimmune, chemical, traumatic, and radiation insults to the brain.
Adiposogenital dystrophy screening
There is currently no recommended screening for adiposogenital dystrophy.
Natural history, complication, and prognosis
The symptoms of adiposogenital dystrophy are due to deficiency of hypothalamic and pituitary hormones. Some complications of adiposogenital dystrophy includeobesity, mental retardation, and diabetes insipidus. The condition will not improve without treatment and often worsens over time.
Diagnosis
Imaging, laboratory tests, hormonal assay, molecular and genetic test are useful in the diagnosis of adiposogenital dystrophy.
History and Symptoms
The history and symptoms of adiposogenital dystrophy are related to the loss of hypothalamic and pituitary hormones. Examples include a history of traumatic brain injury, a history of radiation treatment, a headaches, a vision disturbances, prepubertal obesity, polyphagia.
Physical examination
Patients with adiposogenital duystrophy may show the following physical findings associated with hypothalamic and pituitary dysfunction including short stature, obesity, delayed puberty, small testes.
Laboratory findings
Laboratory findings are crucial in the diagnosis of adiposogenital dystrophy. Pituitary hormones are low and there may also be downstream hormonal deficiencies such as estrogen deficiency, testosterone deficiency, and hypothyroidism. Electrolyte imbalance may also be seen.
Adiposogenital dystrophy electrocardiogram
There are no ECG findings associated with adiposogenital dystrophy.
Adiposogenital dystrophy head X-ray
There are no head X-ray findings associated with adiposogenital dystrophy. However, on skeletal X-ray, delayed ossification may be revealed.
Use of computerized tomography in adiposogenital dystrophy
CT scan is not the imaging study of choice for patients with adiposogenital dystrophy, however, it may be used in emergencies. It may reveal tumors, suprasellar calcifications, or pituitary destruction.
MRI findings in adiposogenital dystrophy
MRI is better than CT scan for diagnostic imaging the pituitary gland, hence it is considered to be the gold standard imaging modality for adiposogenital dystrophy. It may reveal tumors, suprasellar calcifications, or pituitary destruction.
Vision Test
Patients with adiposogenital dystrophy may suffer from vision impairments such as bitemporal hemianopsia and color vision impairment. It may be severe enough to render the patient legally blind.
Other imaging findings
There are no other imaging modalities used for [[adiposogenital dystrophy besides X-ray, CT scan, and MRI.
Other Diagnostic Findings
Molecular and genetic testing for DNA methylation to rule out other diseases that are similar to adiposogenital dystrophy.
Treatment
Treatment modalities include hormone replacement, surgery and appetite suppressants. Diet and exercise are also helpful.
Medical therapy
Hormonal supplementation can be used for treating hormone deficiencies, if present. Appetite suppressants, diet, and exercise are also used to manage obesity.
Surgery
Patients with tumors may benefit from biopsy and surgery.
Primary Prevention
There is no primary prevention available for adiposogential dystrophy.
Secondary Prevention
There is no Secondary prevention available for adiposogential dystrophy.
Cost-effectiveness of therapy
Treatment of adiposogenital dystrophy can very expensive, with hormone replacement and surgery costing tens of thousands of dollars per year.
Future or Investigational Therapies
Information on current clinical trials can be found at https://clinicaltrials.gov/. Some current clinical trials also are posted on https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/ Clinical trials sponsored by private sources http://www.centerwatch.com/ For information about clinical trials conducted in Europe https://www.clinicaltrialsregister.eu/"Froelich Syndrome - NORD (National Organization for Rare Disorders)".