Article
Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.
BMC pediatrics - 29 Nov 2016
Brauner Raja, Picard-Dieval Flavia, Lottmann Henri, Rouget Sébastien, Bignon-Topalovic Joelle, Bashamboo Anu, McElreavey Ken
Abstract excerpt
BACKGROUND: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the...
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