The following diagnostic tests for estrogen and testosterone levels are used by the family doctor or endocrinologist to verify the clinical findings. Chromosomal analysis may also have to be done. 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 findings for hypogonadism including diagnostic tests:
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
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
Menopause or Andropause: FSH, LH high, free testosterone levels in blood or saliva testosterone low (for andropause); estrogen and progesterone saliva test low (for menopause)
When the physician orders a testosterone level, it helps to establish whether there is production of testosterone from Leydig cells in the testicles or not. Similarly, in a 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). Karyotyping will confirm Turner syndrome or Klinefelter syndrome. Low ACTH is present in panpituitarism. With regard to the sex hormones saliva testing is considered to be more reliable than blood tests as this way only the free hormone levels are determined that passed through the saliva gland (Ref. 16 and 17).
References:
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3. The Merck Manual, 7th edition, by M. H. Beers et al., Whitehouse Station, N.J., 1999. Chapter 8: Thyroid disorders.
4. The Merck Manual, 7th edition, by M. H. Beers et al., Whitehouse Station, N.J., 1999. Chapter 7:Pituitary disorders.
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14. Ferri: Ferri’s Clinical Advisor: Instant Diagnosis and Treatment, 2004 ed., Copyright © 2004 Mosby, Inc.
15. Rakel: Conn’s Current Therapy 2004, 56th ed., Copyright © 2004 Elsevier
16. Dr. John R. Lee and Virginia Hopkins: “Hormone Balance Made Simple – The Essential How-to Guide to Symptoms, Dosage, Timing, and More”. Wellness Central, NY, 2006
17. Thierry Hertoghe, M.D.: “The Hormone Solution – Stay Younger Longer With Natural Hormone And Nutrition Therapies.” Three Rivers Press, New York ©2002 as well as several presentations by Dr. Hertoghe at the 19th Annual World Congress Anti-Aging and Aesthetic Medicine in Las Vegas (December 8-10, 2011).
