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What’s primary amenorrhea?

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Primary amenorrhea is the absence of menstruation in young women aged 16 or older. It can be caused by genetic conditions, physical stressors, and birth defects. Diagnosis involves physical exams, blood tests, and imaging. Treatment depends on the underlying cause and may involve medication, surgery, or lifestyle changes. Complications include emotional and psychological distress.

Primary amenorrhea is the absence of menstruation for a young woman 16 years of age and older. Individuals can experience primary amenorrhea with or without the physiological changes that occur with puberty. There are a variety of factors that can contribute to primary amenorrhea, including the presence of certain diseases, physical stressors, and birth defects. Treatment for this condition depends on the underlying cause and may involve the use of medications, surgery, or a combination of both.

Normally, menstruation begins around age 12. Absence of menses is not considered primary amenorrhea until a girl is 16 or older. Although she may have undergone the physical changes associated with puberty, a girl with primary amenorrhea will not menstruate. There are several factors that can contribute to the development of this condition.

Individuals with certain genetic conditions, such as adrenogenital, Turner, and Prader-Willi syndromes, may experience an absence of menstruation. Other disorders, such as cystic fibrosis, thyroid disease, and hypoglycemia, can make it difficult for some young women to start menstruating. Individuals experiencing extreme physical stresses associated with malnutrition, drastic weight loss, or obesity may also not menstruate in their mid to late teens. Birth defects that directly affect the reproductive system and organs, such as testicular feminization and true hermaphroditism, can also prevent the onset of menstruation. Chronic disease can also impact an individual’s ability to begin menstruating.

The most common and significant sign of primary amenorrhea is the absence of the onset of a monthly menstrual cycle. Additional symptoms that may occur usually depend on the underlying cause of the condition. Individuals can develop a condition known as hirsutism, which is the excessive growth and distribution of hair in areas such as the chest, back or face. Other signs of amenorrhea may include vision changes and persistent headache.

There are several diagnostic tests that can be conducted to determine the cause of primary amenorrhea. Initially, physical and pelvic exams may be done, as well as a pregnancy test. Blood tests may be ordered to evaluate thyroid levels, check for markers suggestive of disease or other abnormalities, and evaluate hormone levels, including luteinizing hormone (LH) and follicle stimulating hormone (FSH), both of which play a key role in the onset of ovulation and menstruation. Additional tests may include an ultrasound of the pelvic area, a computed tomography (CT) scan and magnetic resonance imaging (MRI) of the head to evaluate the condition of the pituitary gland, and a urinalysis.

Treatment for this type of amenorrhea depends entirely on the underlying cause of the absence of periods. If the condition is caused by obesity, malnutrition or dramatic weight loss, both dietary and lifestyle changes may be recommended, including regular exercise and adopting a healthy balanced diet and eating habits. Individuals who are discovered to have a secondary condition, such as a tumor, may require surgery and radiation therapy. Birth defects may require drug therapy, surgery, or a combination of the two. Other conditions may require treatment appropriate to individual circumstances and may involve the use of medications, surgery, lifestyle and dietary changes, or a combination of all four.
The prognosis associated with primary amenorrhea relies on the success of timely and appropriate treatment. For people whose amenorrhea can’t be corrected with traditional treatment options, using medications to create a pseudomenstrual period can offer a semblance of normality. Complications associated with this type of amenorrhea generally involve emotional and psychological distress due to feelings of being different and potentially infertile.

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