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Sex hormones and/or gonadotropins may play a crucial role in the development of testicular germ cell cancer (TGCC). A direct link between this malignancy and endocrine factors has not been confirmed. We tested whether CAG and GGN repeats of the androgen receptor gene (AR) play a role in the aetiology or pathogenesis of TGCC. Eighty-three TGCC patients and(More)
BACKGROUND The androgen receptor (AR) is frequently expressed in breast cancers. The AR genotype may affect disease-free survival and response to endocrine therapy. METHODS In all, 634 women undergoing breast cancer surgery between 2002 and 2008 were followed until 30 June 2010. Six haplotype-tagging single-nucleotide polymorphisms in the AR, and the(More)
Although sufficient androgen receptor (AR) function is crucial for normal male sexual differentiation, single-point mutations in the AR gene are infrequent in the two most common male congenital malformations, hypospadias and cryptorchidism. Because polymorphic CAG and GGN segments regulate AR function, we investigated whether there was any association(More)
The functional role of the GGN repeat in the human androgen receptor gene is unknown, although mutations in this region have been found in patients with inter-sex conditions. We have investigated the prevalence of GGN mutations in the androgen receptor in the Swedish population and their relation to male reproductive function. A physical examination and(More)
BACKGROUND We investigated the androgen receptor gene GGN polymorphism and its relation to male infertility and receptor function. METHODS Ninety-nine infertile patients with sperm counts < or = 5 x 10(6)/ml were screened for karyotypic abnormalities and Y-chromosome microdeletions. The GGN and CAG repeats were sequenced in those without genetic(More)
In Greenland, with a male population of approximately 30 000 individuals, the incidence of prostate cancer is extremely low with only three cases described during the period 1988-1997. Polymorphisms related to high androgen metabolism and/or response in the 5alpha-reductase type 2 (SRD5A2) and the androgen receptor (AR) genes, respectively, have been linked(More)
BACKGROUND Testicular cancer (TC) patients have a high survival rate, and the question of post-therapy recovery of sperm production and its dependence on genetic predisposition is of major interest. METHODS Ejaculates were obtained from 112 TC patients at one or more of the following time points: post-orchidectomy, or 6, 12, 24, 36 and 60 months(More)
BACKGROUND An absent or dysfunctional androgen receptor (AR) in 46,XY individuals is the most common cause of various degrees of undermasculinization. Therefore, we routinely perform sequencing of the AR gene in all cases with suspected androgen insensitivity. METHODS In a newborn 46,XY male diagnosed with partial androgen insensitivity syndrome and a(More)
Superior androgen receptor (AR) function in subjects carrying a GGN repeat length of 23 (GGN23) has been indicated in vivo. Therefore, the activity of the AR carrying GGN23 combined with CAG22 was compared to the AR with GGN10, 24 and 27, respectively, in the presence of 0.1-100 nM testosterone or DHT. At 100 nM DHT, GGN24 showed 35% lower transactivating(More)
BACKGROUND The human androgen receptor (AR) gene contains two polymorphisms of CAG and GGN repeats respectively. The GGN repeat function is still largely unknown and to date there are no in vivo data on this segment with respect to the general population. METHODS We investigated the impact of CAG and GGN repeats on male reproductive function, one by one(More)