Genetic testing and counselling for male infertility

Krausz, 2011, Male infertility: pathogenesis and clinical diagnosis., Best Pract Res Clin Endocrinol Metab, 25, 271, 10.1016/j.beem.2010.08.006

Jungwirth, 2012, European Association of Urology guidelines on male infertility: the 2012 update., Eur Urol, 62, 324, 10.1016/j.eururo.2012.04.048

Dabaja, 2013, Microdissection testicular sperm extraction: an update., Asian J Androl, 15, 35, 10.1038/aja.2012.141

Rives, 2013, The feasibility of fertility preservation in adolescents with Klinefelter syndrome., Hum Reprod, 28, 1468, 10.1093/humrep/det084

van Saen, 2012, Can pubertal boys with Klinefelter syndrome benefit from spermatogonial stem cell banking Hum R, eprod, 27, 323

Gies, 2012, Failure of a combined clinical- and hormonal-based strategy to detect early spermatogenesis and retrieve spermatogonial stem cells in 47,XXY boys by single testicular biopsy., Hum Reprod, 27, 998, 10.1093/humrep/des002

Harton, 2012, Chromosomal disorders and male infertility., Asian J Androl, 14, 32, 10.1038/aja.2011.66

Groth, 2013, Clinical review: Klinefelter syndrome - a clinical update., J Clin Endocrinol Metab, 98, 20, 10.1210/jc.2012-2382

Krausz, 2014, EAAEMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013., Andrology, 2, 5, 10.1111/j.2047-2927.2013.00173.x

Jorgez, 2011, Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions., J Clin Endocrinol Metab, 96, E674, 10.1210/jc.2010-2018

Chianese, 2013, Y-chromosome microdeletions are not associated with SHOX haploinsufficiency., Hum Reprod, 28, 3155, 10.1093/humrep/det322

Bonomi, 2012, New understandings of the genetic basis of isolated idiopathic central hypogonadism., Asian J Androl, 14, 49, 10.1038/aja.2011.68

Sykiotis, 2010, Oligogenic basis of isolated gonadotropin-releasing hormone deficiency., Proc Natl Acad Sci U S A, 107, 15140, 10.1073/pnas.1009622107

Raivio, 2007, Reversal of idiopathic hypogonadotropic hypogonadism., N Engl J Med, 357, 863, 10.1056/NEJMoa066494

Laitinen, 2012, Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations., PLoS One, 7, e39450, 10.1371/journal.pone.0039450

Tommiska, 2013, A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism., Clin Endocrinol (Oxf), 78, 316, 10.1111/j.1365-2265.2012.04493.x

Hoogendoorn, 2003, Functional analysis of human promoter polymorphisms., Hum Mol Genet, 12, 2249, 10.1093/hmg/ddg246

Grigorova, 2011, Genetically determined dosage of follicle-stimulating hormone (FSH) affects male reproductive parameters., J Clin Endocrinol Metab, 96, E1534, 10.1210/jc.2011-0632

Ferlin, 2011, Toward a pharmacogenetic approach to male infertility: polymorphism of follicle-stimulating hormone beta-subunit promoter., Fertil Steril, 96, 1344, 10.1016/j.fertnstert.2011.09.034

Tuttelmann, 2012, Combined effects of the variants FSHB -211GT and FSHR 2039AG on male reproductive parameters., J Clin Endocrinol Metab, 97, 3639, 10.1210/jc.2012-1761

Grigorova, 2013, Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume., Andrology, 1, 293, 10.1111/j.2047-2927.2012.00028.x

Davis-Dao, 2007, Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis., J Clin Endocrinol Metab, 92, 4319, 10.1210/jc.2007-1110

Simanainen, 2011, Length of the human androgen receptor glutamine tract determines androgen sensitivity in vivo., Mol Cell Endocrinol, 342, 81, 10.1016/j.mce.2011.05.011

Nenonen, 2010, CAG repeat number is not inversely associated with androgen receptor activity in vitro., Mol Hum Reprod, 16, 153, 10.1093/molehr/gap097

Davis-Dao, 2012, Shorter androgen receptor CAG repeat lengths associated with cryptorchidism risk among Hispanic white boys., J Clin Endocrinol Metab, 97, E393, 10.1210/jc.2011-2439

Nenonen, 2011, Nonlinear association between androgen receptor CAG repeat length and risk of male subfertility - a meta-analysis., Int J Androl, 34, 327, 10.1111/j.1365-2605.2010.01084.x

Krausz, 2012, An encore for the repeats: new insights into an old genetic variant., J Clin Endocrinol Metab, 97, 764, 10.1210/jc.2012-1130

Tuttelmann, 2011, Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome., PLoS One, 6, e19426, 10.1371/journal.pone.0019426

Krausz, 2012, High resolution X chromosome-specific array-CGH detects new CNVs in infertile males., PLoS One, 7, e44887, 10.1371/journal.pone.0044887

Lopes, 2013, Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1., PLoS Genet, 9, e1003349, 10.1371/journal.pgen.1003349

Salonia, 2009, Are infertile men less healthy than fertile men Results of a prospective case-control survey., Eur Urol, 56, 1025, 10.1016/j.eururo.2009.03.001

Jensen, 2009, Good semen quality and life expectancy: a cohort study of 43,277 men., Am J Epidemiol, 170, 559, 10.1093/aje/kwp168

Mueller, 2013, Independent specialization of the human and mouse X chromosomes for the male germ line., Nat Genet, 45, 1083, 10.1038/ng.2705