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Long-Term Outcome of Disorders of Sex Development

Warne G.L.
Department of Endocrinology and Diabetes, Royal Children’s Hospital, Melbourne, Vic., Australia Sex Dev 2008;2:268–277 (DOI:10.1159/000152043)


The management of disorders of sex development (DSD) has been a problem area for years, partly because clinicians have started to see that not all of their patients grow up to be happy adults content with the gender assigned to them at birth, and partly because of the vigorous activities of patient advocacy organizations who have publicized their unhappiness and disagreement about current practices to the world at large and to politicians in particular. Results from a large number of long-term outcome studies have been published in the last decade and this paper attempts to give an overview of what we now know and what we still do not know about how to obtain a good outcome for our patients. Many studies have focused on a particular disorder and there have been more about congenital adrenal hyperplasia and complete androgen insensitivity (CAIS) than any of the other conditions, even though mixed gonadal dysgenesis is probably more common than CAIS. This is because researchers have wanted to know about the effects of hormones on the brain. There have been studies from a number of different countries, and cultural differences come to the fore in disorders affecting sex and gender. Very few studies have been done in Africa or East Asia so far. Long-term outcome should be studied in every treatment center, but there is a great need for study instruments to be developed that would be robust enough to use in a range of different cultural settings and languages. The studies show that while many patients fare well and are leading productive lives, gender dysphoria has been underestimated in the past and that gender counseling as well as sexual counseling should be part of the multi-disciplinary service available to patients with DSD. More emphasis is also needed on strategies to prevent the development of germ cell cancers. Urological problems in both males and females with DSD have been underestimated and deserve more attention.


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