Disorders of Sex Development: Classification and Treatment

Differences of sexual development and their clinical implications

“…22 An individualised, patient-centred care plan should be formulated by an experienced multidisciplinary team, inclusive of psychological services, alongside a fully informed patient and their family. 2,3,6,22 Transmission of information and communication should be a continual process, in ageappropriate language and often in personalised vocabulary. 6 Signposting the patient towards peer support networks is beneficial because these have been shown to improve psychological wellbeing.…”

“…How that individual might identify as they develop into an adult is not wholly predictable; however, there are certain factors that may aid decisionmaking, such as fertility potential, fetal brain androgen exposure in utero, the anatomy of the external genitalia and amenity to functional surgical repair. 2,22 Though rates of gender dysphoria are greater than background in those with DSD, there is evidence that the initially assigned gender is the best predictor of gender identity as an adult. 34,35 Alternatively, some families are electing to raise their child as gender neutral until they are old enough to decide for themselves.…”

“…6,22,26,36,37 Reduced bone mineral density is a common feature of DSD secondary to estrogen deficiency and is also found in 70% of women with CAH secondary to exogenous corticosteroids. 2,37,38 Short stature is a feature of Turner syndrome, and growth hormone is licensed to promote bone growth and maximise adult height. 39…”

“…2 This was supported by clinicians who, following expansion in understanding of molecular genetics and increased awareness of the potential for malignant transformation, were acknowledging the inaccurate and nonspecific nature of the previous nomenclature. 1,2,3 Controversial terms such as 'hermaphrodite', 'pseudohermaphrodite' and 'sex reversal' were abolished, and the umbrella term 'intersex disorders' was replaced with 'disorders of sex development'. 3,4,5 There is, however, continuing disquiet with regard to terminology; for example, the word 'differences' is often preferred to 'disorders' of sex development and 'atypical' preferred to 'ambiguous' genitalia.…”

“…3,4,5 There is, however, continuing disquiet with regard to terminology; for example, the word 'differences' is often preferred to 'disorders' of sex development and 'atypical' preferred to 'ambiguous' genitalia. 2 Physicians must remain mindful ofand sensitive to this issue. This is a highly topical and controversial area, with a paucity of long-term outcome data or evidence-based guidance to inform optimum patient-centred care.…”