Diagnostic Tests For Estrogen Deficiency And Testosterone Deficiency

The following diagnostic tests are used by the family doctor or endocrinologist to verify the clinical findings. They might not be all done, as only specific tests are needed to confirm the diagnosis or to rule out other possible diagnoses, if the clinical findings are ambiguous.

Here is an overview of the most common causes of hypogonadism and some diagnostic tersts:

*Diagnostic tests for hormone deficiencies of testicles and ovaries*
Condition:		Diagnostic tests:
Primary hypogonadism	Klinefelter syndrome	chromosomal analysis, high FSH, low testosterone
	bilateral anorchia	low testosterone, hCG injection will not elevate level of testosterone
	Turner syndrome	chromosomal analysis, X-ray of hands and feet, CT scan of aorta to document coarctation of aorta, low estrogen, high FSH and LH
	congenital adrenal hyperplasia (CAH)	absent cortisol, high ACTH, high renin, low aldosterone, high potassium, hCG stimulation test positive



Secondary hypogonadism	Panpituitarism	low ACTH and low testosterone levels; clomiphene-citrate test shows no increase of LH, FSH or testosterone


	Kallman syndrome	repeated injections of GnRH may restore gonadotropins of pituitary gland to normal levels
Age-related hypogonadism	Menopause or Andropause	FSH, LH and free testosterone (for andropause) levels

Serum testosterone determination helps to establish whether there is production of testosterone from Leydig cells in the testicles or not. Similarly, in the female estrogen levels can determine whether or not functioning ovarian tissue is present. If it is not, FSH and LH levels are high (missing feedback on the pituitary gland). Low ACTH is present in panpituitarism.

However, the clomiphene citrate challenge test, which normally would produce FSH or LH secretion due to competition of clomiphene (which is a weak estrogen) with estrogen at the estrogen receptors of the gonadotropin producing cells of the pituitary gland, fails to release gonadotropins and therefore does not show the testosterone response normally found. In congenital adrenal hyperplasia (=CAH) there is absent cortisol production because of an enzyme defect. Due to the intact feedback mechanism ACTH secretion is high. Aldosterone levels are low, again because of the enzyme defect in the adrenal gland. This leads to loss of sodium chloride in the urine and potassium retention resulting in turn in elevated renin levels from the kidney. The hCG stimulation test is useful to test the functioning of the testicular tissue in children or adults with CAH. After an injection of hCG for 3 or 4 days the testosterone production will at least double the value from the baseline determination.

To test for the possibility of secondary hypogonadism the GnRH stimulation test can be done, where the purified hypothalamic gonadotropin releasing hormone (=GnRH) is given by injection and both gonadotropins as well as estrogen and testosterone are analyzed. Such a test can for instance be utilized to diagnose the Kallman syndrome in males.

This is a rough outline, but the endocrinologist likely will do a number of more tests to complete the clinical evaluation and to be certain that the diagnosis has been established beyond any doubt before specific treatments can begin.

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Disclaimer:

This outline is only a teaching aid to patients and should stimulate you to ask the right questions when seeing your doctor. However, the responsibility of treatment stays in the hands of your doctor and you.

References:

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Last Modified: Jan. 30, 2007