Froelich's Syndrome

Froelich's Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Froelich's Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Adiposogenital Dystrophy
  • Babinski-Froelich Syndrome
  • Dystrophia Adiposogenitalis
  • Frolich's Syndrome
  • Hypothalamic Infantilism-Obesity
  • Launois-Cleret Syndrome
  • Sexual Infantilism

Disorder Subdivisions

  • None

General Discussion

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



This syndrome appears to affect males mostly. The more obvious and frequently encountered characteristics are delayed puberty, small testes, and obesity. Teen-age boys with this disorder must be distinguished from those who have inherited growth delay disorders or Prader Willi syndrome.

Symptoms

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.

Causes

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.

Affected Populations

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

Standard Therapies

Diagnosis

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.



Treatment

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

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com



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.

References

TEXTBOOKS

Reichlin S. Neuroendocrinology. In: Wilson JD, Foster DW. Eds. Textbook of Endocrinology. 8th ed. W.B. Saunders Company. Philadelphia, PA; 1992:192-93.



Styne Dm. Disorders of Puberty: Delayed Puberty. In: Sperling MA. Ed. Pediatric Endocrinology. 1st ed. W.B. Saunders Company. Philadelphia, PA; 1996:454-460.



JOURNAL ARTICLES

Ogura T, Tobe K, Mimura Y et al. Testosterone modulates serum leptin concentratyions in a male patient with hypothalamic hypogonadiam. J Endocrinol Invest. 2000;23:246-50.



Citron JT, Ettinger B, Rubinoff H, et al. Prevalence of hypothalamus-pituitary imaging abnormalitioes in impotent men with secondary hypogonadism. J Urol. 1996;155:529-33.



Schopohl J, Mojto J, Losa M, et al. Changes in anterior pituitary response in patients with idiopathic hypothalamic hypogonadism caused by pulsatile GnRH therapy and testosterone replacement. Exp Clin Endocrinol Diabetes. 1995;103:84-90.



Metyolkina L, Peresedov V. Transnasal stereotactic surgery of pituitary adenomas concomitant with acromegaly. Stereotact Funct Neurosurg. 1995;65:184-86.



FROM THE INTERNET

Froehlich or Frölich Syndrome. nd. 1p.

www.vulgaris-medical.com/testf/frolich.htm



Adiposogenital dystrophy Information Page(s). Last Update; 1 Mar 2003:4pp.

www.diseasedatabase.com/sieve/item1.asp?glngUswerChoice=29318



Pituitary-Hypothalamic Syndromes. nd. 2pp.

www.pathguy.com/lectures/pituitar.htm

Resources

Human Growth Foundation

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Suite 5

Glen Head, NY 11545

Tel: (516)671-4041

Fax: (516)671-4055

Tel: (800)451-6434

Email: hgf1@hgfound.org

Internet: http://www.hgfound.org/



MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



The Arc

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Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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