- Author: Stephen Kemp, MD, PhD; Chief Editor: George T Griffing, MD more...
The following studies may be indicated in hypogonadism:
- Determine follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin, and testosterone levels and obtain thyroid function test results.
- Examination of seminal fluid, karyotyping, and testicular biopsy may be helpful.
- For males after puberty, the Guidelines of the Endocrine Society require the diagnosis of hypogonadism be based on symptoms and signs of hypogonadism plus the presence of a low testosterone level measured on at least 2 occasions.
- Determine LH, FSH, prolactin, and estradiol levels and obtain thyroid function test results.
- Karyotyping may be helpful. If gonadotropin levels are elevated, measure antiovarian antibody levels.
Pelvic ultrasonography may be helpful in females.
Adrenocorticotropic hormone (ACTH) stimulation testing: In patients in whom a form of congenital adrenal hyperplasia is suspected, adrenal steroid synthesis is best evaluated by performing a cosyntropin (ACTH 1-24) stimulation test. Baseline serum adrenocortical hormone levels are measured, then 0.25 mg of cosyntropin is intravenously injected, and serum hormone levels are remeasured after 60 minutes. Precursor product ratios are compared with those in age-matched control subjects to determine whether a steroidogenic defect is involved in sex hormone synthesis.
Luteinizing-hormone releasing hormone (LHRH) stimulation testing: To distinguish between true hypogonadotropic hypogonadism and constitutional delay in growth and maturation, performing a stimulation test with LHRH may be helpful.
LHRH is intravenously injected, and LH and FSH levels are determined at 15-minute intervals following LHRH administration.
A shortened version of the study has been used, in which LHRH is subcutaneously injected, and the specimen for LH and FSH levels is taken at 30-40 minutes.
Obtaining LHRH for testing over the past several years has been difficult. Some centers have substituted testing LH response to aqueous leuprolide.
Testicular tissue testing: If testes are not palpable and whether any testicular tissue is present is unclear, administering human chorionic gonadotropin (hCG) and measuring testosterone response may be helpful.
Bone age may be helpful in distinguishing hypogonadism from constitutional delay in growth and maturation. Timing of onset of puberty is related more to bone age than to chronologic age. Distinguishing hypogonadism from constitutional delay in growth and maturation is often difficult until the bone age is at a point adequate for pubertal development.
Occasionally, testicular biopsy findings are helpful, particularly if azoospermia or oligospermia is present.
[Guideline] Tekgul S, Riedmiller H, Gerharz E, et al. Micropenis. Guidelines on paediatric urology. 2009 Mar. [Full Text].
[Guideline] Bhasin S, Cunningham GR, Hayes FJ, et al. Testosterone therapy in men with androgen deficiency syndromes: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010 Jun. 95(6):2536-59. [Medline].
Boggs W. Transdermal Testosterone Doesn't Boost PSA Levels or Prostate Cancer Risk. Medscape Medical News Jan 15, 2013. Available at http://www.medscape.com/viewarticle/777680. Accessed: January 24, 2013.
Raynaud JP, Gardette J, Rollet J, Legros JJ. Prostate-specific antigen (PSA) concentrations in hypogonadal men during 6 years of transdermal testosterone treatment. BJU Int. 2013 Jan 7. [Medline].
Viswanathan V, Eugster EA. Etiology and treatment of hypogonadism in adolescents. Endocrinol Metab Clin North Am. 2009 Dec. 38(4):719-38. [Medline].
Murphy KG. Kisspeptins: regulators of metastasis and the hypothalamic-pituitary-gonadal axis. J Neuroendocrinol. 2005 Aug. 17(8):519-25. [Medline].
Silveira LG, Noel SD, Silveira-Neto AP, et al. Mutations of the KISS1 Gene in Disorders of Puberty. J Clin Endocrinol Metab. 2010 Mar 17. [Medline].
Abdulla AB, Niloy AA, Shah TA, et al. Laurence Moon Bardet Biedl Syndrome. Mymensingh Med J. 2009 Jan. 18(1 Suppl):S124-128. [Medline].
Tucker ME. FDA OKs Natesto, First-Ever Nasal Testosterone Treatment. Medscape Medical News. May 29 2014. [Full Text].
Nainggolan L. EMA finds little evidence that testosterone ups CV risk. Medscape Medical News. October 10, 2014. [Full Text].
PRAC review does not confirm increase in heart problems with testosterone medicines. European Medicines Agency. Available at http://www.ema.europa.eu/docs/en_GB/document_library/Referrals_document/Testosterone_31/Recommendation_provided_by_Pharmacovigilance_Risk_Assessment_Committee/WC500175213.pdf. Accessed: October 10, 2014.
Albert SG, Morley JE. Testosterone therapy, association with age, initiation and mode of therapy with cardiovascular events: a Systematic Review. Clin Endocrinol (Oxf). 2016 Apr 28. [Medline].
Baillargeon J, Al Snih S, Raji MA, et al. Hypogonadism and the risk of rheumatic autoimmune disease. Clin Rheumatol. 2016 Jun 20. [Medline].
Achermann JC, Gu WX, Kotlar TJ, et al. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab. 1999 Dec. 84(12):4497-500. [Medline].
Bhagavath B, Podolsky RH, Ozata M, et al. Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. Fertil Steril. 2006 Mar. 85(3):706-13. [Medline].
Bouvattier C, Tauber M, Jouret B, et al. Gonadotropin treatment of hypogonadotropic hypogonadal adolescents. J Pediatr Endocrinol Metab. 1999 Apr. 12 Suppl 1:339-44. [Medline].
Carey PO, Howards SS, Vance ML. Transdermal testosterone treatment of hypogonadal men. J Urol. 1988 Jul. 140(1):76-9. [Medline].
Kaneko N, Kawagoe S, Hiroi M. Turner's syndrome--review of the literature with reference to a successful pregnancy outcome. Gynecol Obstet Invest. 1990. 29(2):81-7. [Medline].
Lamberts SW, de Jong FH, Birkenhager JC. Evaluation of a therapeutic regimen in Cushing's disease. The predictability of the result of unilateral adrenalectomy followed by external pituitary irradiation. Acta Endocrinol (Copenh). 1977 Sep. 86(1):146-55. [Medline].
Lee PA. Disorders of puberty. Lifshitz F, ed. Pediatric Endocrinology. 3rd ed. Marcel Dekker; 1996. 175-95.
Mazer N, Bell D, Wu J, et al. Comparison of the steady-state pharmacokinetics, metabolism, and variability of a transdermal testosterone patch versus a transdermal testosterone gel in hypogonadal men. J Sex Med. 2005 Mar. 2(2):213-26. [Medline].
Muscatelli F, Strom TM, Walker AP, et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature. 1994 Dec 15. 372(6507):672-6. [Medline].
Nainggolan L. Five years of testosterone ameliorates metabolic syndrome in hypogonadal men. Medscape Medical News. October 28, 2013. [Full Text].
Navot D, Laufer N, Kopolovic J, et al. Artificially induced endometrial cycles and establishment of pregnancies in the absence of ovaries. N Engl J Med. 1986 Mar 27. 314(13):806-11. [Medline].
Pozo J, Argente J. Ascertainment and treatment of delayed puberty. Horm Res. 2003. 60 Suppl 3:35-48. [Medline].
Rogol AD. Pubertal androgen therapy in boys. Pediatr Endocrinol Rev. 2005 Mar. 2(3):383-90. [Medline].
Rosenbloom AL, Almonte AS, Brown MR, et al. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. J Clin Endocrinol Metab. 1999 Jan. 84(1):50-7. [Medline].
Saenger P. Clinical review 48: The current status of diagnosis and therapeutic intervention in Turner's syndrome. J Clin Endocrinol Metab. 1993 Aug. 77(2):297-301. [Medline].
Seminara SB, Oliveira LM, Beranova M, et al. Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest. 2000 Oct. 23(9):560-5. [Medline].
Snyder PJ, Lawrence DA. Treatment of male hypogonadism with testosterone enanthate. J Clin Endocrinol Metab. 1980 Dec. 51(6):1335-9. [Medline].
Thomas PQ, Dattani MT, Brickman JM, et al. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet. 2001 Jan 1. 10(1):39-45. [Medline].
Traish AM, Haider A, Doros G, Saad F. Long-term testosterone therapy in hypogonadal men ameliorates elements of the metabolic syndrome: an observational, long-term registry study. Int J Clin Pract. 2013 Oct 15. [Medline]. [Full Text].
Tucker ME. FDA Approves Aveed Testosterone Jab, with Restrictions. Medscape Medical News. Mar 7 2014. [Full Text].