What is the algorithm for diagnosing amenorrhea with delayed puberty?

Updated: Oct 14, 2019
  • Author: Kristi A Tough DeSapri, MD; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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Obtain studies of thyroid function (thyroid-stimulating hormone [TSH] and thyroxine [T4]) and bone age. If TSH levels are elevated and T4 levels are low, the cause is hypothyroidism. If the bone age is delayed, the cause is constitutional delay.

If the bone age is normal, obtain LH, FSH, and prolactin levels. If LH and FSH levels are elevated, obtain a karyotype.

If the karyotype is 45,X, the cause is gonadal dysgenesis (ie, Turner syndrome). Amenorrhea can also occur when 1 of the 2 X chromosomes is abnormal, such as a ring chromosome, or if a partial loss of the p or q arm of the X chromosome occurs. If the karyotype is 46,XX, the primary cause is ovarian failure from pure gonadal dysgenesis.

Perform an autoimmune workup. Consider an etiology of autoimmune oophoritis, effects of radiation therapy or chemotherapy, 17-alpha-hydroxylase deficiency, or resistant ovary syndrome. Check for neurosensory loss.

If the karyotype is 46,XY, the cause is Swyer syndrome. The patient has streak gonads and neither testosterone nor anti-müllerian hormone is produced; thus, the patient has an external female phenotype but no internal female reproductive organs and does not enter puberty. The gonads have an increased incidence of malignant transformation and should be removed.

If LH and FSH levels are low or within the reference range and bone age is normal, obtain a head MRI. If head MRI findings are abnormal, the cause is pituitary tumor, pituitary destruction, or hypothalamic disease

If prolactin levels are elevated, obtain a head MRI. If head MRI findings are abnormal, the cause is pituitary tumor or a brain lesion disrupting the pituitary stalk. If the MRI finding is normal, the cause may be marijuana use or psychiatric medicine, specifically dopamine antagonist medications, which lead to a decrease in prolactin inhibiting factor and a subsequent increase in serum prolactin levels.

If head MRI findings are normal with normal history and physical examination findings, the etiology may be drug use, an eating disorder, athleticism, or psychosocial stress.

If head MRI findings are normal but clinical evaluation and screening study findings are abnormal, chronic disease can be excluded.

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