5-Alpha-Reductase Deficiency Differential Diagnoses

  • Author: Jill E Emerick, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Jul 29, 2010
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Jill E Emerick, MD  Fellow, Pediatric Endocrinology, Uniformed Services University of the Health Sciences, Pediatrics Department, Walter Reed Army Medical Center/National Naval Medical Center

Jill E Emerick, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Noelle Summers Larson, MD  Fellow, Pediatric Endocrinology, Uniformed Services University of the Health Sciences, Pediatrics Department, Walter Reed Army Medical Center/National Naval Medical Center

Noelle Summers Larson, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Medical Association, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Andrew J Bauer, MD  Program Director, Pediatric Endocrinology Fellowship, Uniformed Services University of the Health Sciences

Andrew J Bauer, MD is a member of the following medical societies: American Academy of Pediatrics, American Thyroid Association, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Phyllis W Speiser, MD  Chief, Division of Pediatric Endocrinology, The Children's Hospital, North Shore LIJ Health System; Professor of Pediatrics, New York University School of Medicine

Phyllis W Speiser, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Barry B Bercu, MD  Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital

Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Federation for Clinical Research, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Lawson-Wilkins Pediatric Endocrine Society, Pituitary Society, Society for Pediatric Research, Society for the Study of Reproduction, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Merrily P M Poth, MD  Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences

Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

References

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  2. Silver RI, Russell DW. 5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias. J Urol. Sep 1999;162(3 Pt 2):1142-5. [Medline].

  3. Imperato-McGinley J, Zhu YS. Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency. Mol Cell Endocrinol. Dec 30 2002;198(1-2):51-9. [Medline].

  4. Zhu YS, Imperato-McGinley JL. 5alpha-reductase isozymes and androgen actions in the prostate. Ann N Y Acad Sci. Feb 2009;1155:43-56. [Medline].

  5. Medonca BB, Domenice S, Arnhold, JP, and Costa EMF. 46, XY disorders of sex development (DSD). Clinical Endocrinology. 2009;70:173-187.

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  7. Bertelloni S, Scaramuzzo RT, Parrini D, Baldinotti F, Tumini S, Ghirri P. Early diagnosis of 5alpha-reductase deficiency in newborns. Sex Dev. 2007;1(3):147-51. [Medline].

  8. Praveen EP, Desai AK, Khurana ML, et al. Gender identity of children and young adults with 5alpha-reductase deficiency. J Pediatr Endocrinol Metab. Feb 2008;21(2):173-9. [Medline].

  9. Katz MD, Cai LQ, Zhu YS, et al. The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency. J Clin Endocrinol Metab. Nov 1995;80(11):3160-7. [Medline].

  10. Choi JH, Kim GH, Seo EJ, Kim KS, Kim SH, Yoo HW. Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development. J Pediatr Endocrinol Metab. Jun 2008;21(6):545-53. [Medline].

  11. hCG Stimulation Test v2. Available at www.dvh.nhs.uk/downloads/documents/5K1WT1DN2U_hCG_Stimulation_Test_v2.pdf. Accessed 11/09/2009.

  12. Informed Consent for Pediatric Genitoplasty or Gonadectomy in Patients with DSDs. AIC Legal. Available at http://www.lgbtbar.org/annual/CLE_materials/3B/GuidelinesforInformedConsent.pdf. Accessed 11/04/2009.

  13. Mendonca BB, Inacio M, Costa EM, et al. Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore). Mar 1996;75(2):64-76. [Medline].

  14. Price P, Wass JA, Griffin JE, et al. High dose androgen therapy in male pseudohermaphroditism due to 5 alpha- reductase deficiency and disorders of the androgen receptor. J Clin Invest. Oct 1984;74(4):1496-508. [Medline].

  15. Sobel V, Schwartz B, Zhu YS, Cordero JJ, Imperato-McGinley J. Bone mineral density in the complete androgen insensitivity and 5alpha-reductase-2 deficiency syndromes. J Clin Endocrinol Metab. Aug 2006;91(8):3017-23. [Medline].

  16. Sharma S, K Gupta D. Male genitoplasty for intersex disorders. Adv Urol. 2008;685897. [Medline].

  17. Ghanem H, Shamloul R, Khodeir F, ElShafie H, Kaddah A, Ismail I. Structured management and counseling for patients with a complaint of a small penis. J Sex Med. Sep 2007;4(5):1322-7. [Medline].

  18. Vardi Y, Har-Shai Y, Gil T, Gruenwald I. A critical analysis of penile enhancement procedures for patients with normal penile size: surgical techniques, success, and complications. Eur Urol. Nov 2008;54(5):1042-50. [Medline].

  19. Katz MD, Kligman I, Cai LQ, et al. Paternity by intrauterine insemination with sperm from a man with 5alpha-reductase-2 deficiency. N Engl J Med. Apr 3 1997;336(14):994-7. [Medline].

  20. Wilson BE, Reiner WG. Management of intersex: a shifting paradigm. J Clin Ethics. Winter 1998;9(4):360-9. [Medline].

  21. Tamar-Mattis A. Medical decision making adn the child with a DSD. www.endocrinetoday.com. Available at http://www.endocrinetoday.com/view.aspx?rid=32542. Accessed 11/05/2009.

  22. Cohen-Kettenis PT. Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav. Aug 2005;34(4):399-410. [Medline].

  23. hCG Stimulation Test. Available at www.dvh.nhs.uk/downloads/documents/5K1WT1DN2U_hCG_Stimulation_Test_v2.pdf. Accessed 11/09/2009.

 
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Biochemical effects of 5-alpha-reductase type 2 deficiency in testosterone biosynthesis. Typically levels of testosterone are elevated, whereas levels of dihydrotestosterone (DHT) are significantly decreased, leading to male undervirilization.
Prader scale reflecting the degree of virilization of the external genitalia. The internal genitalia reflect the changes in the urogenital sinus in response to the presence or absence of mullerian inhibiting hormone (MIH)
 
 
 
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