Differences (Disorders) of Sex Development (DSDs) Differential Diagnoses

1. Lambert SM, Vilain EJ, Kolon TF. A practical approach to ambiguous genitalia in the newborn period. Urol Clin North Am. 2010 May. 37 (2):195-205. [QxMD MEDLINE Link].

2. Houk CP, Lee PA. Update on disorders of sex development. Curr Opin Endocrinol Diabetes Obes. 2012 Feb. 19 (1):28-32. [QxMD MEDLINE Link].

3. Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES Consensus Group., ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child. 2006 Jul. 91 (7):554-63. [QxMD MEDLINE Link].

4. Hughes IA, Houk C, Ahmed SF, Lee PA, Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006 Jun. 2 (3):148-62. [QxMD MEDLINE Link].

5. Jost A. Hormonal factors in the development of the fetus. Cold Spring Harb Symp Quant Biol. 1954. 19:167-81. [QxMD MEDLINE Link].

6. Van Niekerk WA. True Hermaphroditism: Clinical, Morphologic, and Cytogenetic Aspects. Hagerstown, MD: Harper & Row; 1974.

7. Imperato-McGinley J, Peterson RE, Gautier T, Sturla E. Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5alpha-reductase deficiency. N Engl J Med. 1979 May 31. 300 (22):1233-7. [QxMD MEDLINE Link].

8. Saenger P, Goldman AS, Levine LS, Korth-Schutz S, Muecke EC, Katsumata M, et al. Prepubertal diagnosis of steroid 5 alpha-reductase deficiency. J Clin Endocrinol Metab. 1978 Apr. 46 (4):627-34. [QxMD MEDLINE Link].

9. Glassberg KI. Gender assignment in newborn male pseudohermaphrodites. Urol Clin North Am. 1980 Jun. 7 (2):409-21. [QxMD MEDLINE Link].

10. Federman DD. Abnormal Sexual Development: A Genetic and Endocrine Approach to Differential Diagnosis. Philadelphia: WB Saunders; 1967.

11. Raifer J, Walsh PC. Mixed gonadal dysgenesis-dysgenetic male pseudohermaphroditism. Josso N, ed. The Intersex Child. Basel: Karger; 1981. 105-11.

12. Kaefer M, Diamond D, Hendren WH, Vemulapalli S, Bauer SB, Peters CA, et al. The incidence of intersexuality in children with cryptorchidism and hypospadias: stratification based on gonadal palpability and meatal position. J Urol. 1999 Sep. 162 (3 Pt 2):1003-6; discussion 1006-7. [QxMD MEDLINE Link].

13. [Guideline] Consortium on the Management of Disorders of Sex Differentiation. Clinical guidelines for the management of disorders of sex development in childhood. DSD Guidelines. Available at https://dsdguidelines.org/files/clinical.pdf. August 16, 2006; Accessed: November 30, 2021.

14. Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr. 2016. 85 (3):158-80. [QxMD MEDLINE Link]. [Full Text].

15. Sandberg DE, Gardner M, Callens N, Mazur T, DSD-TRN Psychosocial Workgroup, the DSD-TRN Advocacy Advisory Network, et al. Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD-Translational research network. Am J Med Genet C Semin Med Genet. 2017 Jun. 175 (2):279-292. [QxMD MEDLINE Link]. [Full Text].

16. Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, et al. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). Clin Endocrinol (Oxf). 2016 May. 84 (5):771-88. [QxMD MEDLINE Link]. [Full Text].

17. [Guideline] BSPED Clinical Committee. Clinical standards for management of an infant or adolescent presenting with a suspected disorder of sex development (DSD). British Society for Paediatric Endocrinology and Diabetes. Available at https://www.bsped.org.uk/media/1577/clinical-standards-for-management-of-an-infant-or-adolescent-presenting-with-suspected-differences-of-sex-development-dsd-jan-19.pdf. November 2017; Accessed: November 30, 2021.

18. Vidal I, Gorduza DB, Haraux E, Gay CL, Chatelain P, Nicolino M, et al. Surgical options in disorders of sex development (dsd) with ambiguous genitalia. Best Pract Res Clin Endocrinol Metab. 2010 Apr. 24 (2):311-24. [QxMD MEDLINE Link].

19. Wolffenbuttel KP, Crouch NS. Timing of feminising surgery in disorders of sex development. Endocr Dev. 2014. 27:210-21. [QxMD MEDLINE Link].

20. Eckoldt-Wolke F. Timing of surgery for feminizing genitoplasty in patients suffering from congenital adrenal hyperplasia. Endocr Dev. 2014. 27:203-9. [QxMD MEDLINE Link].

21. Springer A, Baskin LS. Timing of hypospadias repair in patients with disorders of sex development. Endocr Dev. 2014. 27:197-202. [QxMD MEDLINE Link].

Osama Al-Omar, MD, MBA, FACS, FEBU Associate Professor of Surgery, Chief of Pediatric Urology, Associate Program Director for Pediatric Urology, Urology Residency, Department of Urology, Division of Pediatric Urology, West Virginia University School of Medicine

Osama Al-Omar, MD, MBA, FACS, FEBU is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Urological Association, Society for Fetal Urology

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Harry P Koo, MD Chairman of Urology Division, Director of Pediatric Urology, Professor of Surgery, Virginia Commonwealth University School of Medicine, Medical College of Virginia; Director of Urology, Children's Hospital of Richmond

Harry P Koo, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Urological Association

Disclosure: Nothing to disclose.

Marc Cendron, MD Associate Professor of Surgery, Harvard School of Medicine; Consulting Staff, Department of Urological Surgery, Children's Hospital Boston

Marc Cendron, MD is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, New Hampshire Medical Society, Societies for Pediatric Urology, Society for Fetal Urology, Johns Hopkins Medical and Surgical Association, European Society for Paediatric Urology

Disclosure: Nothing to disclose.

Joel Hutcheson, MD Consulting Staff, Departments of Surgery and Urology, Pediatric Surgical Associates

Joel Hutcheson, MD is a member of the following medical societies: American Academy of Pediatrics, American Urological Association

Disclosure: Nothing to disclose.

Martin David Bomalaski, MD, FAAP Pediatric Urologist, Alaska Urology; Clinical Assistant Professor, Seattle Children's Hospital

Martin David Bomalaski, MD, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Urological Association

Disclosure: Nothing to disclose.

Howard M Snyder, III, MD Professor, Department of Surgery, Division of Pediatric Urology, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia

Howard M Snyder, III, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Medical Association, American Urological Association, National Kidney Foundation

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article