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Selected differences/disorders of sex development presenting with atypical genital appearance at birth

Selected differences/disorders of sex development presenting with atypical genital appearance at birth
Diagnosis Prevalence (as a cause of atypical genital appearance) Risk of adrenal crisis Projected gender identity and fertility Risk of gonadal tumor References
46,XX DSD
CAH* Common (1:15,000) Yes (in most common forms) Female; fertile
(for 46,XX types of CAH)		 Yes (TART or OART)Δ [1-6]
Mixed gonadal dysgenesis (45,X/46,XY mosaicism with atypical genital appearance) Rare No Usually male; infertile High◊ [7,8,9]
46,XY DSD
5-alpha-reductase type 2 deficiency Very rare No Usually male; fertile Low◊ [10-12]
17-beta-hydroxysteroid dehydrogenase type 3 deficiency Extremely rare No Usually male Intermediate◊ [10,12,13]
Disorders of incomplete or unknown androgen action:
  • Partial androgen insensitivity
  • Incomplete gonadal dysgenesis
Very rare No Unknown; infertile

Nonscrotal gonads – Intermediate◊

Scrotal gonads – Low◊		 [9,14-16]
46,XY with severe genital anomaly ("nonhormonal" DSD):
  • Micropenis
  • Penile agenesis (ablatio penis)
  • Cloacal exstrophy
Rare No Male Low◊ [17-19]
Ovotesticular DSD§ Extremely rare No Variable Low [3,9]
DSD: differences/disorders of sex development; CAH: congenital adrenal hyperplasia; TART: testicular adrenal rest tumorOART: ovarian adrenal rest tumor; .
* Types of CAH that may present with atypical genitalia in 46,XX infants are 21-hydroxylase deficiency (by far most common), 11-beta-hydroxylase deficiency, P450 oxidoreductase deficiency, and 3-beta-hydroxysteroid dehydrogenase type 2 deficiency.
¶ The risk of adrenal crisis refers primarily to CAH due to 21-hydroxylase deficiency or 11-beta-hydroxylase deficiency. Adrenal crisis is not associated with 17-alpha-hydroxylase deficiency, which is a rare cause of CAH affecting 46,XY infants.
Δ There are rare forms of CAH (eg, 3-beta-hydroxysteroid dehydrogenase deficiency) that present with atypical genitalia in 46,XY infants. These infants may have a risk of developing TARTs.[20,21] These forms of CAH are discussed in UpToDate topics on uncommon CAHs. Females with poorly controlled CAH secondary to 21-hydroxylase deficiency appear to be at increased risk for OARTs.[22]
◊ The risk of gonadal tumor is characterized as "high" for risks around 30% and higher, "intermediate" for 5 to 30%, and "low" for less than 5%. The "low" risk category is similar to the risk for individuals with cryptorchidism.[3,4]
§ Ovotesticular DSD refers to histologically confirmed presence of ovarian follicles and testicular tubules in the same individual. This disorder tends to raise difficult challenges regarding gender of rearing and reconstruction surgery. Most patients have a 46,XX karyotype, and fertility has been reported in those who have a functional ovary. The testicular tissue is usually dysgenetic, and fertility has not been reported in those raised as males. The risk of testicular tumor is probably low if the karyotype is 46,XX.[4,23]
References:
  1. Berenbaum SA, Bailey JM. Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2003; 88:1102.
  2. Dessens AB, Slijper FM, Drop SL. Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 2005; 34:389.
  3. Lee PA, Houk CP, Ahmed SF, et al. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006; 118:e488.
  4. Lee PA, Nordenström A, Houk CP, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr 2016; 85:158.
  5. Meyer-Bahlburg HF, Dolezal C, Baker SW, New MI. Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 2008; 37:85.
  6. Meyer-Bahlburg HF, Dolezal C, Baker SW, et al. Gender development in women with congenital adrenal hyperplasia as a function of disorder severity. Arch Sex Behav 2006; 35:667.
  7. Martinerie L, Morel Y, Gay CL, et al. Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys. Eur J Endocrinol 2012; 166:687.
  8. Szarras-Czapnik M, Lew-Starowicz Z, Zucker KJ. A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis. J Pediatr Adolesc Gynecol 2007; 20:333.
  9. de la Calle CM, Kim S, Baskin LS. Diagnosis and treatment of the intra-abdominal gonad in the pediatric population: Testes, ovaries, dysgenetic gonads, streaks, and ovotestes. J Pediatr Surg 2020; 55:2480.
  10. Kolesinska Z, Ahmed SF, Niedziela M, et al. Changes over time in sex assignment for disorders of sex development. Pediatrics 2014; 134:e710.
  11. Imperato-McGinley, 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. 300:1233.
  12. Cohen-Kettenis PT. Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav 2005; 34:399.
  13. Imperato-McGinley, Peterson RE, Stoller R, Goodwin WE. Male pseudohermaphroditism secondary to 17 beta-hydroxysteroid dehydrogenase deficiency: gender role change with puberty. J Clin Endocrinol Metab 1979; 49:391.
  14. Reiner WG. Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J Pediatr Endocrinol Metab 2005; 18:549.
  15. Jurgensen M, Hiort O, Holterhus PM, Thyen U. Gender role behavior in children with XY karyotype and disorders of sex development. Horm Behav 2007; 51:443.
  16. Migeon CJ, Wisiewski AB, Gearhart JP, et al. Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics 2002; 110:e31.
  17. Meyer-Bahlburg. Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav 2005; 34:423.
  18. Reiner WG, Gearhart JP. Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Engl J Med 2004; 350:333.
  19. Reiner WG, Kropp BP. A 7-year experience of genetic males with severe phallic inadequacy assigned female. J Urol 2004; 172:2395.
  20. Vukina J, Chism DD, Sharpless JL, et al. Metachronous Bilateral Testicular Leydig-Like Tumors Leading to the Diagnosis of Congenital Adrenal Hyperplasia (Adrenogenital Syndrome). Case Rep Pathol 2015; 459318.
  21. Claahsen-van der Grinten HL, Sweep FC, Blickman JG, et al. Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol. 2007; 157:339.
  22. Claahsen-van der Grinten HL, Hulsbergen-van de Kaa CA, Otten BJ. Ovarian adrenal rest tissue in congenital adrenal hyperplasia--a patient report. J Pediatr Endocrinol Metab. 2006; 19:177.
  23. Nistal M, Paniagua R, Gonzalez-Peramato P, Reyes-Mugica M: Ovotesticular DSD (true hermaphroditism). Pediatr Dev Pathol 2015;18:345.
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