eMedicine Specialties > Endocrinology > Gonads

Follicle-Stimulating Hormone Abnormalities: Differential Diagnoses & Workup

Author: Serge A Jabbour, MD, Associate Professor, Department of Medicine, Division of Endocrinology, Thomas Jefferson University
Contributor Information and Disclosures

Updated: Jun 15, 2009

Workup

Laboratory Studies

  • Perform additional laboratory studies in men presenting with low follicle-stimulating hormone (FSH) levels.
    • Regarding LH and testosterone, most patients with low FSH levels also have low LH and low testosterone levels. A few cases of isolated FSH deficiency exist in which LH and testosterone levels are within reference ranges but the sperm count is low.
    • For prolactin, patients with high prolactin levels frequently manifest low FSH, LH, and testosterone levels, all of which may resolve with normalization of prolactin levels.
    • In men with low FSH levels and feminizing features, including gynecomastia, serum estradiol measurement is indicated to exclude an estrogen-secreting tumor (testes, adrenals).
    • Semen analysis is performed to assess fertility.
  • In men presenting with high FSH levels, the underlying etiology is related to primary hypogonadism or a gonadotroph adenoma. Therefore, the following lab tests are indicated:
    • For LH and testosterone, patients with primary hypogonadism have low testosterone levels with high LH and FSH levels. Patients with gonadotroph adenomas usually have high FSH levels with normal LH and testosterone levels; occasionally, LH levels can be high, but testosterone levels are also high. Gonadotroph adenomas that secrete FSH may induce compression of normal pituitary cells, leading to low LH and testosterone levels.
    • In patients with gonadotroph adenomas, other pituitary hormone levels must also be assessed because macroadenomas may induce hypopituitarism. Serum TSH and free T4, morning cortisol and adrenocorticotropic hormone (ACTH), prolactin, and, occasionally, dynamic testing for GH may be necessary.
    • Obtain a peripheral leukocyte karyotype in men with congenital primary hypogonadism to determine if Klinefelter syndrome is present.
  • In women presenting with low FSH levels, additional testing should include determination of LH, estradiol, and prolactin levels. Thyroid disease should be excluded by measuring TSH and free T4. If hirsutism is present, serum testosterone and dehydroepiandrosterone sulfate (DHEAS) testing should be performed. Moreover, additional testing such as determination of the serum 17-hydroxyprogesterone level before and after ACTH stimulation may be performed if congenital adrenal hyperplasia is suggested.
  • In women with high FSH levels, the differential diagnosis is either ovarian failure or gonadotroph adenoma. The following points should be remembered:
    • In women with ovarian failure, both FSH and LH levels rise. In women with gonadotroph adenomas, FSH levels are usually high, but LH levels remain within reference ranges. Other pituitary hormone abnormalities may be present.
    • If the diagnosis of ovarian failure is confirmed in patients younger than 30 years, a karyotype evaluation should be performed to exclude Turner syndrome or the presence of Y chromatin material because of the high risk of gonadal tumors, mandating gonadectomy.
    • In the presence of a normal karyotype, autoimmune disease is likely (30% of these patients); therefore, assessment for autoimmune disorders, including thyroid or adrenal disease, is important. Testing may include TSH, antithyroid antibodies, morning serum cortisol, and ACTH evaluations, followed by an ACTH stimulation test if necessary.

Imaging Studies

  • In men or women with low follicle-stimulating hormone (FSH), high prolactin, or high FSH levels (the latter being suggestive of gonadotroph adenoma in the appropriate clinical setting), an MRI scan of the pituitary gland must be obtained.
  • In women with very high DHEAS levels (>700 mcg/dL), perform CT scanning of the adrenals to exclude an androgen-secreting tumor.
  • In women with very high testosterone levels (>200 ng/mL), perform imaging studies of the ovaries (CT scan, ultrasound).
  • In men with high estradiol levels, imaging of the testes (ultrasound) should be performed and, subsequently, the adrenals (CT scan) if the testicular ultrasound findings are normal.

Procedures

  • In women with clinical features and laboratory findings suggestive of an ovarian tumor but with negative results from imaging studies, laparoscopy may be performed to help locate ovarian masses, which could be small and are frequently difficult to detect using routine imaging.

More on Follicle-Stimulating Hormone Abnormalities

Overview: Follicle-Stimulating Hormone Abnormalities
Differential Diagnoses & Workup: Follicle-Stimulating Hormone Abnormalities
Treatment & Medication: Follicle-Stimulating Hormone Abnormalities
Follow-up: Follicle-Stimulating Hormone Abnormalities
Multimedia: Follicle-Stimulating Hormone Abnormalities
References
Further Reading
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References

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Further Reading

Related eMedicine topics:
Craniopharyngioma [Neurology]
Craniopharyngioma [Pediatrics: General Medicine]
Craniopharyngioma [Radiology]
Craniopharyngiomas [Neurosurgery]
Cryptorchidism [Pediatrics: Surgery]
Cryptorchidism [Radiology]
Cryptorchidism [Urology]
Gonadotropin-Releasing Hormone Deficiency in Adults
Hypogonadism
Infertility
Infertility, Male
Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism
Klinefelter Syndrome
Luteinizing Hormone Deficiency
Prader-Willi Syndrome
Turner Syndrome

Clinical guidelines:
Fertility: assessment and treatment for people with fertility problems. National Collaborating Centre for Women's and Children's Health - National Government Agency [Non-U.S.].  2004 Feb.  216 pages.  NGC:003469

Micropenis. In: Guidelines on paediatric urology. European Association of Urology - Medical Specialty Society
European Society for Paediatric Urology - Medical Specialty Society.  2008 Mar.  2 pages.  NGC:006505

Clinical trials:
Follow-up of Serum Androgen Profile After Bariatric Surgery in Men With Obesity Related Hypogonadotropic Hypogonadism

Luveris®(Lutropin Alfa for Injection) in Women With Hypogonadotropic Hypogonadism (LH <1.2 IU/L)

Study of Follicle Stimulating Hormone (FSH) Receptor in Women With Low Antral Follicle Count

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Keywords

follicle-stimulating hormone, FSH, FSH abnormalities, hypogonadism, isolated idiopathic hypogonadotropic hypogonadism, infertility, male infertility, female infertility, woman infertility, Kallmann syndrome, Prader-Willi syndrome, craniopharyngiomas, gonadotropin-releasing hormone, combined pituitary hormone deficiency, fertile eunuch syndrome, pituitary adenomas, pituitary cysts, metastatic cancer to the sella, hypothalamic surgery, pituitary surgery, hypothalamic radiation, pituitary radiation, hemochromatosis, sarcoidosis, histiocytosis, lymphoma, lymphocytic hypophysitis, meningitis, tuberculous meningitis

pituitary apoplexy, head trauma, skull fracture, Cushing syndrome, exogenous glucocorticoid excess, endogenous glucocorticoid excess, hyperprolactinemia, primary hypothyroidism, sex steroid–secreting tumors, sex steroid tumors, excessive exercise, empty sella, pituitary infarction, Sheehan syndrome, chronic systemic disease, anorexia nervosa, congenital adrenal hyperplasia, Klinefelter syndrome, cryptorchidism, androgen biosynthesis disorders, Sertoli-cell-only syndrome, end organ resistance to androgens, Turner syndrome, myotonic dystrophy, mumps orchitis, chemotherapy, testicular torsion, ovarian failure, premature ovarian failure, menopause, premature menopause, gonadotroph adenomas

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Contributor Information and Disclosures

Author

Serge A Jabbour, MD, Associate Professor, Department of Medicine, Division of Endocrinology, Thomas Jefferson University
Serge A Jabbour, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Medical Association, American Thyroid Association, Endocrine Society, and Pennsylvania Medical Society
Disclosure: Nothing to disclose.

Medical Editor

Udaya M Kabadi, MD, Professor, Department of Medicine, University of Iowa College of Medicine
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Romesh Khardori, MD, Chief, Division of Endocrinology, Metabolism and Molecular Medicine, Professor, Department of Internal Medicine, Southern Illinois University School of Medicine
Romesh Khardori, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Medical Association, American Society of Andrology, Endocrine Society, and Illinois State Medical Society
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MBBS, PhD, FRACP, Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

 
 
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