Endocrine Abstracts

Introduction: Disorders of sex development where females have a 46,XY karyotype can be seen. Main reasons for this are the conditions of androgen insensitivity syndrome (AIS) and gonadal dysgenesis. The clinical phenotype of both conditions is variable and can present from an undervirilized or infertile male to an individual with ambiguous genitalia at birth, to a pure female phenotype with unambiguous genitalia, who first present in adolescence with primary amenorrhoea and/or...

Background: Turner syndrome (45,X; TS) and Klinefelter syndrome (47,XXY; KS) present with a range of clinical features due to copy number aberrations of the X chromosome. The underlying genetics of these syndromes have revealed karyotype-dependent transcription and methylation patterns, and implicated genes that escape X chromosome inactivation (XCI). Alterations in the expression pattern of non-coding RNAs has previously been reported in TS and KS, yet the landscape of circul...