Sex Assignment in Disorders of Sex Development

Abstract

Disorders of sex development (DSD) are relatively rare conditions with diverse pathophysiology, which usually present in the newborn or adolescent periods. These conditions are very heterogeneous and can present in a variety of different ways, most commonly with ambiguous genitalia noticed in the newborn period or delayed puberty in adolescents. The impact of these disorders on the lives of these patients and their families should not be underestimated. These clinical situations can often be difficult to manage, particularly in those cases where the sex of rearing is uncertain. The needs of each individual patient presenting with DSD conditions must be fully considered, along with the needs of their families and where appropriate, cultural practices. The multidisciplinary team should be involved from early in the diagnosis and ethical principles must be considered at all stages of management of the condition.

Key Concepts:

  • Disorders of sex development usually present in the newborn or adolescent periods.

  • There are three broad groups of DSD: sex chromosome DSD; 46,XY DSD and 46,XX DSD.

  • Where there is uncertainty about the sex of a patient, sex assignment should be delayed until appropriate investigations have been carried out.

  • A multidisciplinary team should be involved from an early stage.

  • The psychosocial implications of a diagnosis of DSD must be considered for the family and the patient.

Keywords: ambiguous genitalia; gender; multidisciplinary team; sex development; ethics

Figure 1.

Methods of describing differences in appearance of external genitalia. (a) Prader stages describe the overall appearance of genitalia ranging from normal female to normal male. (b) The external masculinisation score (EMS) separately scores four specific features of the external genitalia and the sum of these should equal 12 for normal genitalia in a boy. (c) Descriptions of hypospadias based on preoperative visual inspection.

Figure 2.

External masculinisation score (EMS) and its association with sex of rearing. Dark blue lines and circles at the top of the panel represent EMS in infants raised as boys on a postnatal ward in a maternity hospital. Pink symbols represent the range EMS in a cohort of infants with 46,XY DSD raised as girls. Light blue symbols represent the range of EMS in a cohort of infants with 46,XY DSD raised as boys. Although the median EMS (solid black line) is significantly lower in those infants raised as girls, there is still a significant overlap in the EMS between the two groups of cases of 46,XY DSD inficating that, in 46,XY DSD, the decision to assign sex may not simply be based on the appearance of the genitalia.

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Further Reading

Ahmed SF, Khwaja O and Hughes IA (2000) Clinical features and gender assignment in cases of male undermasculinisation: the role for a masculinisation score. British Journal of Urology International 85: 120–124.

Ahmed SF, Midgley P and Rodie M (2011) The evaluation of ambiguous genitalia in the newborn. In: Wass JAH and Stewart PM (eds) Oxford Textbook of Endocrinology, 2nd edn. Oxford University Press. ISBN: 9780199235292.

Cohen‐Kettenis PT (2010) Psychosocial and psychosexual aspects of disorders of sex development. Best Practice and Research Clinical Endocrinology and Metabolism 24: 325–334.

Duguid A, Morrison S, Robertson A et al. (2007) The psychological impact of genital anomalies on the parents of affected children. Acta Paediatrica 96: 348–352.

Sarafoglou K and Ahmed SF (2012) Disorders of sex development: challenges for the future. Journal of Clinical Endocrinology and Metabolism 97: 2292–2294.

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Lucas‐Herald, Angela K, and Faisal Ahmed, S(Nov 2012) Sex Assignment in Disorders of Sex Development. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0024156]