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65. When to consider gonadectomy in a patient with DSD?

Decision to perform gonadectomy in a patient with DSDs is based on the sex of

rearing and the future risk of development of germ cell tumors. The risk of

germ cell malignancy is high in patients with 46,XY gonadal dysgenesis (com-

plete or partial), 45,X/46,XY mixed gonadal dysgenesis, and in patients with

PAIS having non-scrotal testes; hence, gonadectomy is recommended at diag-

nosis. Patients with CAIS and ovotesticular DSD are at low risk for the devel-

opment of germ cell malignancy. Despite this fact, gonadectomy is recommended

in patients with CAIS as almost all these individuals are reared as females.

However, it is controversial whether to perform gonadectomy during childhood

or after puberty. In patients with ovotesticular DSD, gonadectomy may be

required depending on the sex of rearing. The risk of malignant germ cell

tumors in ovarian tissue in patients with OT-DSD is not known, while the risk

is 3–4 % for testicular tissue; hence, individuals having OT-DSD require peri-

odic surveillance. Patients with Turner syndrome having Y-cell line are at inter-

mediate risk for development of malignant germ cell tumors; hence,

gonadectomy is recommended at diagnosis.

Further Readings

1. Ahmed S, Achermann J, Arlt W, Balen A, Conway G, Edwards Z, Elford S, Hughes I, Izatt L,
   Krone N, Miles H, O’Toole S, Perry L, Sanders C, Simmonds M, Wallace A, Watt A, Willis
   D. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder
   of sex development. Clin Endocrinol (Oxf). 2011;75:12–26.


2. Ahmed S, Rodie M. Investigation and initial management of ambiguous genitalia. Best Pract
   Res Clin Endocrinol Metab. 2010;24:197–218.


3. Auchus R, Chang A. 46, XX DSD: the masculinised female. Best Pract Res Clin Endocrinol
   Metab. 2010;24:219–42.


4. DeGroot L, Jameson J. Endocrinology. Philadelphia: Saunders/Elsevier; 2010.


5. Hughes I, Davies J, Bunch T, Pasterski V, Mastroyannopoulou K, MacDougall J. Androgen
   insensitivity syndrome. Lancet. 2012;380:1419–28.


6. McCann-Crosby B, Mansouri R, Dietrich J, McCullough L, Sutton V, Austin E, et al. State of
   the art review in gonadal dysgenesis: challenges in diagnosis and management. Int J Pediatr
   Endocrinol. 2014;4:1–17.


7. Melmed S, Williams R. Williams textbook of endocrinology. Philadelphia: Elsevier/Saunders;
   2011.


8. Mendonca B, Costa E, Belgorosky A, Rivarola M, Domenice S. 46, XY DSD due to impaired
   androgen production. Best Pract Res Clin Endocrinol Metab. 2010;24:243–62.


9. Ostrer H. Disorders of Sex Development (DSDs): an update. J Clin Endocrinol Metab.
   2014;99:1503–9.


10. Vidal I, Gorduza D, Haraux E, Gay C, Chatelain P, Nicolino M, et al. Surgical options in dis-
    orders of sex development (dsd) with ambiguous genitalia. Best Pract Res Clin Endocrinol
    Metab. 2010;24:311–24.

9 Disorders of Sex Development