Ahumada-Del Castillo Syndrome

National Organization for Rare Disorders, Inc.

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Important

It is possible that the main title of the report Ahumada-Del Castillo Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Ahumada-Del Castillo is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and hypothalamus glands. Symptoms may include the production of breast milk (lactation) not associated with nursing and the absence of menstrual periods (amenorrhea) due to the lack of monthly ovulation (anovulation).

Symptoms

The symptoms of Ahumada-Del Castillo syndrome include the abnormal production of breast milk (galactorrhea) without childbirth and nursing, and the lack of regular menstrual periods (amenorrhea). Women with this disorder have breasts and nipples of normal size and appearance. Secondary female sexual characteristics, such as hair distribution and voice, are also normal. Since the ovaries do not produce eggs, affected females cannot become pregnant.

Causes

The exact cause of Ahumada-Del Castillo syndrome is not known, although some research suggests that small tumors in the pituitary or hypothalamus glands may be responsible for some cases. These tumors are frequently microscopic and extremely difficult to detect. Rarer causes of Ahumada-Del Castillo syndrome may be associated with low levels of thyroid hormone (hypothyroidism), chronic use of drugs that inhibit dopamine (antagonistics) (e.g., chlorpromazine or thorazine), and discontinuation of oral contraceptives (birth control pills). In all cases, an over-secretion of the milk-producing hormone prolactin (hyperprolactinemia) results in the symptoms of Ahumada-Del Castillo.

Affected Populations

Ahumada-Del Castillo affects only females. The symptoms usually begin during adulthood.

Standard Therapies

The diagnosis of Ahumada-Del Castillo Syndrome is usually made by specialized blood tests that detect abnormally elevated levels of the milk-producing hormone prolactin and low levels of the other hormones such as gonadotropins (e.g., follicle stimulating hormone or FSH).



The treatment of Ahumada-Del Castillo syndrome involves the administration o. drugs that stimulate the production of dopamine (dopamine agonists) such as bromocriptine and perogolide. Two recently approved dopamine agonists, quinagolide and cabergoline, may be prescribed for women who do not respond to, or cannot tolerate, the commonly used bromocriptine.



All of these drugs lower the levels of prolactin and may stop abnormal milk secretion and restore normal menstrual periods.



The surgical removal of the small tumors of the pituitary and hypothalamus glands may be performed in some cases. In other patients, the tumors may respond to radiation therapy. When a disorder such as hypothyroidism causes Ahumada-Del Castillo syndrome, the symptoms are usually alleviated through the successful treatment of the underlying disorder. Other treatments may target specific symptoms.

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 website.







For information about clinical trials being conducted at the National Institutes of Health (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

References

TEXTBOOKS



Goldman L, Ausielio D, eds. Cecil Textbook of Medicine. 22nd Ed. Philadelphia, PA. W. B. Saunders Co., 2003:1365-66.







Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:1066.







Berek JS, Adashi EY, Hillard et al. eds. 12th Ed. Novak's Textbook of Gynecology. Philadelphia, PA. Williams & Wilkins, 1996:351-57







Magalini SI, Magalini SC., eds. Dictionary of Medical Syndromes. 4th Ed. Philadelphia, PA. Lippincott Williams & Wilkins. 1999:44.







JOURNAL ARTICLES



Losa M, Mortini P, Giovanelli M. A non-functioning pituitary adenoma initially mimicking a microprolactinoma: The case for long-term follow-up of patients with mild hyperprolactinemia. J Endocrinol Invest. 2005;28:367-70.







Biswas M, Smith J, Jadon D, et al. Long-term remission following withdrawal of dopamine agonist therapy in subjects with microprolactinomas. Clin Endocrinol (Oxf). 2005;63:26-31.







Verhelst J, Abs R. Hyperprolactinemia: pathophysiology and management. Treat Endocrinol. 2003;2:23-32.







Lamberts SW, Quik RF. A comparison of the efficacy and safety of pergolide and bromocriptine in the treatment of hyperprolactinemia. J Clin Endocrinol. 1991;72:635-41.







Jones EE. Hyperprolactinemia and female infertility. J Reprod Med. 1989;34:117-26

Supporting Organizations

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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.