Follicle-Stimulating Hormone Abnormalities Clinical Presentation

  • Author: Serge A Jabbour, MD, FACP, FACE; Chief Editor: George T Griffing, MD   more...
 
Updated: Jan 3, 2012
 

History

The symptomatology depends on the disease causing the low or high follicle-stimulating hormone (FSH) levels and varies between men and women.

  • In men presenting with low FSH levels leading to secondary hypogonadism or high FSH levels resulting from primary hypogonadism, the history reveals erectile dysfunction, decreased libido, infertility, and low energy.
    • In those with hyperprolactinemia, galactorrhea and/or gynecomastia may be present.
    • Depending on the timing of the FSH abnormality, further questioning may indicate ambiguous genitalia at birth or a failure to undergo or complete puberty.
    • Anosmia suggests Kallmann syndrome.
    • Visual abnormalities, headaches, and other hormonal deficiencies suggest a mass or a destructive process involving the pituitary.
  • In men presenting with high FSH levels due to a gonadotroph adenoma, symptoms result from the mass effect (eg, headaches, visual impairment, hormonal deficiencies). However, erectile dysfunction and infertility may occur secondary to low LH levels caused by compression of the normal gonadotroph cells.
  • In women presenting with low FSH levels or high FSH levels secondary to ovarian failure, manifestations include oligomenorrhea or amenorrhea.
    • Galactorrhea may be present in the setting of high prolactin levels.
    • Symptoms of other pituitary hormone deficiencies may also be evident if a mass or a destructive process involves the pituitary gland.
    • Women may have primary or secondary infertility.
    • In women with ovarian failure, other symptoms may include hot flashes, sleep disturbance, mood swings, depression, vaginal dryness and dyspareunia, urinary incontinence, and urinary tract infections.
  • In women with high FSH levels from a gonadotroph adenoma, symptoms are frequently due to mass effect (eg, headaches, visual changes, hypopituitarism). However, a high FSH level may also lead to ovarian hyperstimulation in premenopausal women, with multiple ovarian cysts[10] and a thickened endometrium; this leads to disturbed menstrual cycles, ie, oligomenorrhea or amenorrhea.
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Physical

The physical examination findings also depend on the disease that underlies the abnormal follicle-stimulating hormone level. The following important points must be remembered:

  • In men presenting with hypogonadism, findings depend on the timing of onset during life and on the duration of testosterone deficiency.
    • In utero (if testosterone deficiency occurs in the first trimester): Male sexual differentiation is incomplete, resulting in pseudohermaphroditism. Complete lack of testosterone results in female external genitalia. Incomplete testosterone deficiency causes partial virilization with ambiguous genitalia.
    • In utero (if testosterone deficiency occurs after the first trimester): Normal male sexual differentiation occurs but with micropenis/cryptorchidism at birth.
    • Before puberty: Testosterone deficiency results in delayed and incomplete puberty.
      • Small testes (< 2.5 cm [normal = 4-7 cm])
      • Short phallus
      • High-pitched voice
      • Decreased muscle mass
      • Decreased body hair
      • Delayed bone age
      • Eunuchoid skeletal proportions: Eunuchoidism is a lack of testosterone during puberty that causes a delay in epiphyseal closure so that the continued presence of GH results in increased length of the long bones (ie, arm span greater than height, lower body segment [heel to pubis] longer than upper body segment [pubis to crown]).
    • After puberty
      • Normal skeletal proportions and penile length
      • Soft testes
      • Decreased strength and muscle mass
      • Decreased rate of hair growth (facial, pubic, axillary)
      • Gynecomastia
  • In women presenting with hypogonadism (oligomenorrhea or amenorrhea), physical examination findings may include hirsutism and/or masculinization (eg, frontal balding, clitoromegaly, increased muscle mass) only if an excess of androgens is present, which is not frequent. The examination may reveal stigmata of Turner syndrome (eg, short stature, webbed neck, shield chest, wide carrying angle of the arms), short fourth metacarpals, cardiovascular anomalies (coarctation of aorta, bicuspid aortic valve), or evidence for other endocrine deficiencies or autoimmune diseases (eg, Addison disease, vitiligo, Hashimoto thyroiditis).
  • In men and women with pituitary macroadenomas, visual-field examination findings may be abnormal. Other signs of hypopituitarism may also be detected upon examination.
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Causes

See Pathophysiology.

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Contributor Information and Disclosures
Author

Serge A Jabbour, MD, FACP, FACE  Professor of Medicine, Division of Endocrinology, Diabetes and Metabolic Diseases, Jefferson Medical College of Thomas Jefferson University

Serge A Jabbour, MD, FACP, FACE 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.

Specialty Editor Board

Udaya M Kabadi, MD  Professor, Department of Medicine, University of Iowa College of Medicine

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Romesh Khardori, MD, PhD, FACP  Professor of Endocrinology, Director of Training Program, Division of Endocrinology, Diabetes and Metabolism, Strelitz Diabetes and Endocrine Disorders Institute, Department of Internal Medicine, Eastern Virginia Medical School

Romesh Khardori, MD, PhD, FACP is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians, American Diabetes Association, and Endocrine Society

Disclosure: Nothing to disclose.

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.

References

  1. Grover A, Smith CE, Gregory M, et al. Effects of FSH receptor deletion on epididymal tubules and sperm morphology, numbers, and motility. Mol Reprod Dev. Oct 2005;72(2):135-44. [Medline].

  2. Karges B, de Roux N. Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome. Endocr Dev. 2005;8:67-80. [Medline].

  3. Nagorny P, Sane N, Fasching B, Aussedat B, Danishefsky SJ. Probing the Frontiers of Glycoprotein Synthesis: The Fully Elaborated ß-Subunit of the Human Follicle-Stimulating Hormone. Angew Chem Int Ed Engl. Dec 9 2011;[Medline].

  4. Dandona P, Dhindsa S, Chaudhuri A, et al. Hypogonadotrophic hypogonadism in type 2 diabetes. Aging Male. Sep 2008;11(3):107-17. [Medline].

  5. Ferhi K, Avakian R, Griveau JF, et al. Age as only predictive factor for successful sperm recovery in patients with Klinefelter's syndrome. Andrologia. Apr 2009;41(2):84-7. [Medline].

  6. Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. Horm Res. 2008;69(6):317-26. [Medline].

  7. Van Saen D, Gies I, De Schepper J, Tournaye H, Goossens E. Can pubertal boys with Klinefelter syndrome benefit from spermatogonial stem cell banking?. Hum Reprod. Dec 12 2011;[Medline].

  8. Cools M, Rooman RP, Wauters J, et al. A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter. Fertil Steril. Oct 2004;82(4):923-5. [Medline].

  9. Livadas S, Xekouki P, Kafiri G, et al. Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins. Fertil Steril. Mar 2005;83(3):769-72. [Medline].

  10. Ardawi MS, Rouzi AA. Plasma adiponectin and insulin resistance in women with polycystic ovary syndrome. Fertil Steril. Jun 2005;83(6):1708-16. [Medline].

  11. Walvoord E. Sex steroid replacement for induction of puberty in multiple pituitary hormone deficiency. Pediatr Endocrinol Rev. Jan 2009;6 Suppl 2:298-305. [Medline].

  12. Trabado S, Maione L, Salenave S, Baron S, Galland F, Bry-Gauillard H, et al. Estradiol levels in men with congenital hypogonadotropic hypogonadism and the effects of different modalities of hormonal treatment. Fertil Steril. Jun 2011;95(7):2324-9, 2329.e1-3. [Medline].

  13. Efesoy O, Cayan S, Akbay E. The efficacy of recombinant human follicle-stimulating hormone in the treatment of various types of male factor infertility at a single university hospital. J Androl. May 28 2009;[Medline]. [Full Text].

  14. Andersson AM, Jorgensen N, Frydelund-Larsen L, et al. Impaired Leydig cell function in infertile men: a study of 357 idiopathic infertile men and 318 proven fertile controls. J Clin Endocrinol Metab. Jul 2004;89(7):3161-7. [Medline]. [Full Text].

  15. Aron DC, Findling JW, Tyrrell JB. Hypothalamus & Pituitary. In: Greenspan FS, Strewler GJ, eds. Basic & Clinical Endocrinology. 5th ed. New York, NY: McGraw-Hill; 1997:112-4.

  16. Bachmann G. Physiologic aspects of natural and surgical menopause. J Reprod Med. Mar 2001;46(3 Suppl):307-15. [Medline].

  17. Cevik R, Gur A, Acar S, et al. Hypothalamic-pituitary-gonadal axis hormones and cortisol in both menstrual phases of women with chronic fatigue syndrome and effect of depressive mood on these hormones. BMC Musculoskelet Disord. Dec 8 2004;5(1):47. [Medline].

  18. Conway GS. Premature ovarian failure. Br Med Bull. 2000;56(3):643-9. [Medline].

  19. Fraser IS, Kovacs G. Current recommendations for the diagnostic evaluation and follow-up of patients presenting with symptomatic polycystic ovary syndrome. Best Pract Res Clin Obstet Gynaecol. Oct 2004;18(5):813-23. [Medline].

  20. Gur A, Cevik R, Nas K, et al. Cortisol and hypothalamic-pituitary-gonadal axis hormones in follicular-phase women with fibromyalgia and chronic fatigue syndrome and effect of depressive symptoms on these hormones. Arthritis Res Ther. 2004;6(3):R232-8. [Medline].

  21. Hayes FJ, Seminara SB, Crowley WF Jr. Hypogonadotropic hypogonadism. Endocrinol Metab Clin North Am. Dec 1998;27(4):739-63, vii. [Medline].

  22. Ishikawa T, Fujioka H, Fujisawa M. Clinical and hormonal findings in testicular maturation arrest. BJU Int. Dec 2004;94(9):1314-6. [Medline].

  23. Klibanski A. Nonsecreting pituitary tumors. Endocrinol Metab Clin North Am. Sep 1987;16(3):793-804. [Medline].

  24. Lamberts SW, de Herder WW, van der Lely AJ. Pituitary insufficiency. Lancet. Jul 11 1998;352(9122):127-34. [Medline].

  25. McDonough PG. Molecular abnormalities of FSH and LH action. Ann N Y Acad Sci. Nov 2003;997:22-34. [Medline].

  26. McIver B, Romanski SA, Nippoldt TB. Evaluation and management of amenorrhea. Mayo Clin Proc. Dec 1997;72(12):1161-9. [Medline].

  27. Plymate S. Hypogonadism. Endocrinol Metab Clin North Am. Dec 1994;23(4):749-72. [Medline].

  28. Practice Committee of the American Society for Reproductive Medicine. Current evaluation of amenorrhea. Fertil Steril. Jul 2004;82(1):266-72. [Medline].

  29. Silber SJ. Evaluation and treatment of male infertility. Clin Obstet Gynecol. Dec 2000;43(4):854-88. [Medline].

  30. Wang C, Swerdloff RS. Androgen replacement therapy. Ann Med. Oct 1997;29(5):365-70. [Medline].

  31. Women's Health Initiative. Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results From the Women's Health Initiative randomized controlled trial. JAMA. Jul 17 2002;288(3):321-33. [Medline].

  32. Young J, Chanson P, Salenave S, et al. Testicular anti-mullerian hormone secretion is stimulated by recombinant human FSH in patients with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab. Feb 2005;90(2):724-8. [Medline].

 
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Human G protein-coupled receptor 54 (GPR54) receptor model. Mutations identified in patients with idiopathic hypogonadotropic hypogonadism are indicated.
This is a frequently sampled serum luteinizing hormone (LH) profile in a male patient with Kallmann syndrome (KS), compared with that in a healthy individual. A lack of LH pulsatility is seen in the former.
Magnetic resonance imaging (MRI) scan of pituitary macroadenoma.
Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair, as well as testicular dysgenesis.
Hypoplastic right hemiscrotum in a patient with an undescended right testis.
 
 
 
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