Primary amenorrhea

Alternative names
Amenorrhea - primary; Primary amenorrhea; No periods; Absent periods; Absent menses

Definition
This condition is the absence of any menstrual flow in a woman who has never menstruated by the age of 16.

Causes, incidence, and risk factors

Most girls begin menstruating between ages 9 and 18, with an average around 12 years old. Primary amenorrhea is not considered to have occurred until a girl is beyond age 16, if she has undergone other normal changes that occur during puberty. Primary amenorrhea may occur with or without other signs of puberty.

There are many possible causes of primary amenorrhea:

     
  • Drastic weight reduction (from poverty, fad dieting, Anorexia Nervosa, bulimia, very strenuous exercise, or other cause)  
  • Malnutrition  
  • Extreme Obesity  
  • Chronic (long term) illnesses  
  • Genital abnormalities present since birth (absence of the uterus or vagina, vaginal septum, cervical stenosis, imperforate hymen)  
  • Gonadal dysgenesis  
  • Hypoglycemia  
  • Hypothyroidism and Hyperthyroidism  
  • Cystic fibrosis  
  • Cushing’s disease  
  • Polycystic ovarian disease  
  • Chromosomal abnormalities such as Turner’s syndrome (XO) or Sawyer’s syndrome (XY)  
  • Hypogonadotropic hypogonadism  
  • Hyperprolactinemia  
  • Testicular feminization  
  • True hermaphroditism  
  • Adrenogenital syndrome  
  • Congenital heart disease (cyanotic)  
  • Congenital adrenal hyperplasia  
  • Craniopharyngioma, Pituitary tumors, ovarian tumors, adrenal tumors  
  • Prader-Willi syndrome  
  • Pregnancy

Primary amenorrhea in the United States occurs in less than 0.1% of girls.

Signs and tests

     
  • Physical examination and medical history  
  • Urine pregnancy test  
  • Progesterone withdrawal  
  • Chromosome analysis  
  • Serum chemistry (serum gonadotropin)       o LH       o FSH       o Prolactin       o TSH       o T3 and T4  
  • Urine chemistry, 17-ketosteroids  
  • Head CT  
  • Head MRI scan  
  • Ultrasound, pelvic region  
  • Laparoscopy

Treatment

Treatment depends on the cause of the amenorrhea. Primary amenorrhea caused by developmental abnormalities (which may result when the parts of the female reproductive system did not form properly before birth) may require hormonal supplementation, surgery, or both.

Pituitary tumors, located in the brain, are usually treated with bromocriptine, a drug that inhibits the abnormally high prolactin secretion caused by these tumors. Surgical removal may also be necessary. Radiation therapy is usually reserved for situations in which other medical or surgical treatment regimens are not successful.

In any case, support and counseling for the patient and family is necessary. This will address specific concerns and provide guidance regarding anticipated sexual development.

For women who do not have other reproductive abnormalities, work up for amenorrhea is delayed until after age 16.

If the condition is caused by systemic disease, treatment of the disease may allow menstruation to begin.

Expectations (prognosis)

Overall the outlook is good, depending on the cause of the amenorrhea. If the amenorrhea is caused by one of the following conditions, there is a good possibility of correcting the amenorrhea through medication, lifestyle change, or surgery:

     
  • Normal delay of onset (up to age 14 or 15)  
  • Drastic weight reduction (resulting from poverty or fad dieting)  
  • Hypoglycemia  
  • Extreme Obesity  
  • Hypogonadotropic hypogonadism  
  • Chronic illness  
  • Malnutrition  
  • Congenital heart disease (cyanotic)  
  • Hyperthyroidism  
  • Imperforate hymen  
  • Adrenogenital syndrome

If the amenorrhea is caused by one of the following conditions, it is unlikely that the amenorrhea can be corrected by any method:

     
  • Congenital abnormalities of the genital system  
  • Gonadal dysgenesis  
  • Turner’s syndrome (XO)  
  • Testicular feminization syndrome  
  • True hermaphroditism  
  • Cystic fibrosis  
  • Craniopharyngioma  
  • Prader-Willi syndrome

If the amenorrhea cannot be corrected, it is sometimes possible to create a pseudomenstruation with medications to help the young woman feel more like her friends or family.

Complications

Emotional distress or crisis about being different from friends or family can occur.

Calling your health care provider

Call your health provider if your daughter is older than age 16 and has not yet begun menstruating.

Johns Hopkins patient information

Last revised: December 3, 2012
by Gevorg A. Poghosian, Ph.D.

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