Chiari Frommel Syndrome

Disease Overview

Chiari-Frommel Syndrome is a rare endocrine disorder that affects women who have recently given birth (postpartum) and is characterized by the over-production of breast milk (galactorrhea), lack of ovulation (anovulation), and the absence of regular menstrual periods (amenorrhea). In Chiari-Frommel Syndrome, these symptoms persist long (for more than six months) after childbirth. The absence of normal hormonal cycles may result in reduced size of the uterus (atrophy). Some cases of Chiari-Frommel Syndrome resolve completely without treatment (spontaneously); hormone levels and reproductive function return to normal.

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Synonyms

Frommel-Chiari Syndrome
Lactation-Uterus Atrophy
Postpartum Galactorrhea-Amenorrhea Syndrome

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Signs & Symptoms

Chiari-Frommel Syndrome is a rare disorder characterized by the abnormal production of breast milk (galactorrhea), and the absence of regular menstrual periods (amenorrhea) and ovulation (anovulatory) for more than 6 months after childbirth. These symptoms occur even though the mother is not nursing the baby. The pregnancy which precedes the onset of Chiari-Frommel Syndrome is usually normal, and childbirth and initial lactation are uneventful. However, normal menstrual periods and ovulation do not resume, and persistent discharge from the nipples occurs, which can sometimes last for years. Other symptoms may include emotional distress, anxiety, headaches, backaches, abdominal pain, impaired vision, and occasionally obesity. Women who have Chiari-Frommel Syndrome for a long time may also have a loss of muscle tone in the uterus and diminished uterine size (atrophy).

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Causes

The exact cause of Chiari-Frommel Syndrome is not fully understood but may be related to an abnormality of the hypothalamus and/or pituitary glands. Some research suggests that microscopic tumors of the pituitary gland (microadenomas), stimulated by the hormones associated with pregnancy (e.g., prolactin, a stimulator of lactation) are responsible. When such microtumors grow, they may be detected by imaging techniques (CT scan or MRI). Approximately 50 percent of affected women eventually resume normal menstruation over a period of months or years.

The cause of the abnormal hormonal relationship between the pituitary and hypothalamus gland associated with Chiari-Frommel Syndrome is not known. Some studies suggest that microscopic lesions of the hypothalamus may also cause Chiari-Frommel Syndrome. An association with the use of oral contraceptives has also been suggested.

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Affected populations

Chiari-Frommel Syndrome is a rare disorder that affects females who have recently given birth (postpartum).

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Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of Chiari-Frommel Syndrome. Comparisons may be useful for a differential diagnosis:

Forbes-Albright Syndrome is one of a group of rare endocrine disorders characterized by abnormally high levels of the hormone prolactin due to a tumor of the pituitary gland. Symptoms include the production and secretion of milk from the breasts (lactation) without associated childbirth or nursing (galactorrhea), and the absence of a regular menstrual period (amenorrhea). Women with Forbes-Albright Syndrome generally have breasts and nipples of normal size and appearance, but the pattern of body hair and sexual drive may be reduced. (For more information on this disorder, choose “Forbes-Albright” as your search term in the Rare Disease Database.)

Ahumada-del Castillo Syndrome is a rare endocrine disorder characterized by the abnormal function of the hypothalamus and pituitary glands affecting the secretion of hormones. This disorder affects only women and is not related to pregnancy. The two major symptoms of this disorder include the production and expression of milk from the breasts not associated with childbirth or nursing, and the lack of regular menstruation. There is normal development of secondary sexual characteristics. (For more information on this disorder, choose “Ahumada-del Castillo” as your search term in the Rare Disease Database.)

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Standard Therapies

Some women with Chiari-Frommel Syndrome may have abnormally high levels of prolactin in the blood. Other women have normal prolactin levels. Additional laboratory findings may include abnormally low levels of estrogen and other hormones (gonadotropins) in the urine.

The drug bromocriptine may be prescribed to help reduce prolactin levels. When these levels are reduced, normal ovulation cycles may be restored along with regular menstrual periods.

If the symptoms persist for a long period of time, affected individuals should be monitored (CT scan or MRI) for the presence of a pituitary tumor. If a tumor is discovered, it may be difficult to treat if it is very small. Larger tumors may be surgically removed.

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Clinical Trials and Studies

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

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References

TEXTBOOKS

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:1933-38.

Frantz AG, Wilson JD. Endocrine Disorders of the Breast. In: Wilson JD, Foster DW. Eds. Textbook of Endocrinology. 8th ed. W.B. Saunders Company. Philadelphia, PA; 1992:959.

JOURNAL ARTICLES

Matsuno A, Ogino Y, Itoh J, et al. detection of a silent pituitary somatotroph adenoma in a patient with amenorrhea and/or galactorrhea: paradoxical response of GH in TRH or GnRH provocation test. Endocr J. 2000;47 Suppl:S105-09.

Whitman-Elia GF, Windham NQ. Galactorrhea may be clue to serious problems. Patients deserve a thorough workup. Postgrad Med. 2000;107:165-68, 171.

Olive D. Indications for hyperprolactinemia therapy. J Reproduct Med. 1999;44(12 Suppl):1091-94.

Luciano AA. Clinical presentation of hyperprolactinemia. J Reproduct Med. 1999;44(12 Suppl):1085-90.

McLennan MK. Radiology rounds: Pituitary microadenoma (prolactinoma). Can Fam Physician. 1998;44:2396-98.

Forsbach G, Olivares F, Vazquez J, et al. [Disappearance of radiographic image of a macroprolactinoma after treatment with bromocriptine] Ginocol Obstet Mex. 1998;66:170-72.

Katznelson L, Klibanski A. Prolactinomas. Cancer Treat Res. 1997;89:41-55.

Tartagni M, Nicastri PL, Diaferia A, et al. Long-term follow-up of women with amenorrhea-galactorrhea treated with bromocriptine. Clin Exp Obstet Gynecol. 1995;22:301-06.

FROM THE INTERNET

McKusick VA, Ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Entry Number; 104600: Last Edit Date; 8/15/1994.

Dambro MR. Chiari-Frommel syndrome. nd. 1p.

www.5mcc.com/Assets/SUMMARY/TP0189.html

Wysolmerski J, Van Houten JN. Disorders of Breast Development. In: Burrow GN. Ed. Endocrinology of Pregnancy. 8pp.

www.endotext.org/pregnancy/pregnancy5/pregnancy5_2htm

Chiari-Frommel Syndrome. HONselect. Last Modified: Jan 29 2003. 2pp.

www.hon.ch/cgi-bin/HONselect

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Programs & Resources

RareCare^® Assistance Programs

NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/