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9 Cards in this Set
- Front
- Back
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What is the definition of primary amenorrhea? |
Traditionally the definition is no menstration by age 16 years old. It is also been defined as no menstrual periods with no secondary sexual characteristics at the age of 14 or 15. |
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What is the laboratory evaluation for primary amenorrhea? |
Pregnancy test. Follicle-stimulating hormone. Thyroid stimulating hormone. prolactin. |
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What is the most common cause of primary amenorrhea? |
About 40% of primary amenorrhea is secondary to hypergonadotrophic hypogonadism.
This means the FSH level is high. But there will be no secondary sexual characteristics because the hypogonadism means low estrogen. |
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What are the most common causes of gonadal dysgenesis? |
Monosomy X or Turner syndrome is the most common cause of gonadal dysgenesis. More rare causes are pure gonadal dysgenesis which has an XX karyotype. There is also Sywer syndrome, which has an XY karyotype. |
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Why is karyotyping important if you make the diagnosis of gonadal dysgenesis? |
If gonadal dysgenesis is associated with a Y or partial Y chromosome then there is a risk for developing a gonadoblastoma which is benign, but has a 50-60% chance of developing a malignant germ cell tumor, usually a dysgerminoma.
Prompt gonadectomy is required because of the risk of malignancy in the presence of a Y chromosome. The exception is patients with Androgen insensitivity syndrome in whom this procedure can be delayed until age 30. The risk of developing cancer is not significant before this age in the setting of Androgen insensitivity syndrome. |
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What is the second most common cause of primary amenorrhea? |
The second most common cause of primary amenorrhea is hypogonadotropic hypogonadism which accounts for 30% of primary amenorrhea.
TSH and prolactin levels are used to rule out thyroid and hyperprolactinemia.
The remainder of the differential includes constitutional delay (most common), exercise, stress, chronic disease, poor nutrition, anorexia nervosa, infiltrative causes (sarcoidosis, amyloidosis, lymphocytic hypophysitis, Langerhans Cell Histocytosis), ischemic causes, other pituitary abnormalities, Kallmann Syndrome, CNS lesions.
An MRI should be obtained to roll out CNS tumor. |
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What is the third most common cause of primary amenorrhea? |
Mullerian agenesis accounts for about 10% of primary amenorrhea |
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What is the fourth most common cause of primary amenorrhea? |
Androgen insensitivity syndrome accounts for 5% of primary amenorrhea |
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The most common cause of gonadal dysgenesis is secondary to abnormal karyotypes. What are other causes of hypertrophic hypogonadism? |
Gonadal injury secondary to chemotherapy or radiation Infection such as mumps Resistant ovary syndrome Autoimmune causes 17 Alpha hydroxylase deficiency |
