Ahumada-Del Castillo Syndrome
Ahumada-Del Castillo Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Ahumada-Del Castillo Syndrome is not the name you expected.
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).
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.
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.
Ahumada-Del Castillo affects only females. The symptoms usually begin during adulthood.
Symptoms of the following disorders can be similar to those of Ahumada-Del Castillo syndrome. Comparisons may be useful for a differential diagnosis:
Chiari-Frommel syndrome is a rare endocrine disorder that affects females who have recently had a baby (postpartum). It is characterized by the production of breast milk (lactation), lack of ovulation (anovulation), and the absence of regular menstrual periods (amenorrhea) for more than 6 months. Other symptoms may include emotional distress, anxiety, headaches, backaches, abdominal pain, impaired vision, and/or obesity. (For more information on this disorder, choose "Chiari-Frommel" as your search term in the Rare Disease Database.)
Forbes-Albright syndrome is one in 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.)
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.
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Last Updated: 7/1/2005
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