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Literature DB >> 18953522

[Genetics of male infertility].

Abstract

Genetic causes of male infertility increase in frequency with decreasing sperm concentration (oligo-/azoospermia). The decision about genetic tests should be made after a complete andrological work-up. Common causes comprise chromosomal aberrations (including Klinefelter syndrome), microdeletions of the AZF loci of the Y chromosome, mutations in the gene responsible for cystic fibrosis (CFTR) causing CBAVD and in genes involved in hypogonadotropic hypogonadism (including Kallmann syndrome). Every genetic investigation should be accompanied by comprehensive genetic counselling to help with the interpretation of results and support the patient/the couple concerning consequences for their family planning and treatment options.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2008 PMID： 18953522 DOI： 10.1007/s00120-008-1804-4

Source DB: PubMed Journal: Urologe A ISSN： 0340-2592 Impact factor: 0.639

12 in total

Review 1. Gene polymorphisms and male infertility--a meta-analysis and literature review.

Authors: Frank Tüttelmann; Ewa Rajpert-De Meyts; Eberhard Nieschlag; Manuela Simoni
Journal: Reprod Biomed Online Date: 2007-12 Impact factor: 3.828

2. In-vitro fertilization: the experience of treatment, pregnancy and delivery.

Authors: F van Balen; N Naaktgeboren; T C Trimbos-Kemper
Journal: Hum Reprod Date: 1996-01 Impact factor: 6.918

3. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy.

Authors: Alberto Ferlin; Barbara Arredi; Elena Speltra; Carla Cazzadore; Riccardo Selice; Andrea Garolla; Andrea Lenzi; Carlo Foresta
Journal: J Clin Endocrinol Metab Date: 2007-01-09 Impact factor: 5.958

4. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients.

Authors: Elena Vorona; Michael Zitzmann; Jörg Gromoll; Andreas N Schüring; Eberhard Nieschlag
Journal: J Clin Endocrinol Metab Date: 2007-06-19 Impact factor: 5.958

Review 5. The human Y chromosome: a masculine chromosome.

Authors: Michiel J Noordam; Sjoerd Repping
Journal: Curr Opin Genet Dev Date: 2006-05-02 Impact factor: 5.578

6. Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience.

Authors: Manuela Simoni; Frank Tüttelmann; Jörg Gromoll; Eberhard Nieschlag
Journal: Reprod Biomed Online Date: 2008-02 Impact factor: 3.828

Review 7. Klinefelter's syndrome.

Authors: Fabio Lanfranco; Axel Kamischke; Michael Zitzmann; Eberhard Nieschlag
Journal: Lancet Date: 2004 Jul 17-23 Impact factor: 79.321

8. High efficacy of gonadotropin or pulsatile gonadotropin-releasing hormone treatment in hypogonadotropic hypogonadal men.

Authors: S Kliesch; H M Behre; E Nieschlag
Journal: Eur J Endocrinol Date: 1994-10 Impact factor: 6.664

Review 9. Genetic insights into human isolated gonadotropin deficiency.

Authors: Ericka Barbosa Trarbach; Leticia Gontijo Silveira; Ana Claudia Latronico
Journal: Pituitary Date: 2007 Impact factor: 4.107

10. Pulsatile GnRH or human chorionic gonadotropin/human menopausal gonadotropin as effective treatment for men with hypogonadotropic hypogonadism: a review of 42 cases.

Authors: D Büchter; H M Behre; S Kliesch; E Nieschlag
Journal: Eur J Endocrinol Date: 1998-09 Impact factor: 6.664

8 in total

Review 1. [Cell biology and physiology of male reproduction].

Authors: S Schlatt; J Ehmcke; J Wistuba
Journal: Urologe A Date: 2016-07 Impact factor: 0.639

2. Profiling the DNA methylation patterns of imprinted genes in abnormal semen samples by next-generation bisulfite sequencing.

Authors: Wanhong He; Υuhua Sun; Sufen Zhang; Xing Feng; Minjie Xu; Jianfeng Dai; Xiaohua Ni; Xin Wang; Qihan Wu
Journal: J Assist Reprod Genet Date: 2020-06-23 Impact factor: 3.412

[Genetics of male infertility].

Review 1. Gene polymorphisms and male infertility--a meta-analysis and literature review.

2. In-vitro fertilization: the experience of treatment, pregnancy and delivery.

3. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy.

4. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients.

Review 5. The human Y chromosome: a masculine chromosome.

6. Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience.

Review 7. Klinefelter's syndrome.

8. High efficacy of gonadotropin or pulsatile gonadotropin-releasing hormone treatment in hypogonadotropic hypogonadal men.

Review 9. Genetic insights into human isolated gonadotropin deficiency.

10. Pulsatile GnRH or human chorionic gonadotropin/human menopausal gonadotropin as effective treatment for men with hypogonadotropic hypogonadism: a review of 42 cases.

Review 1. [Cell biology and physiology of male reproduction].

2. Profiling the DNA methylation patterns of imprinted genes in abnormal semen samples by next-generation bisulfite sequencing.

3. The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.

Review 4. [Rational diagnosis and treatment of male infertility].

5. [Testosterone and infertility].

Review 6. [Andrological testosterone replacement therapy].

7. Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility.

Review 8. Microtubular Dysfunction and Male Infertility.