China
Africa
Explore chapters and articles related to this topic
Genetic Causes of Male Infertility
Published in Botros Rizk, Ashok Agarwal, Edmund S. Sabanegh, Male Infertility in Reproductive Medicine, 2019
Amr Abdel Raheem, Mohamed Wael Ragab, Tarek M. A. Aly
46,XX male syndrome (de la Chapelle syndrome) is a rare syndrome that occurs in 1/10,000–20,000 of newborn males [7]. In the majority of cases, this syndrome is caused by the translocation of the sex-determining region of the Y chromosome (SRY region, which plays a crucial role in differentiation of bipotential gonads into testes) to the X chromosome or an autosome. A minority of cases are SRY negative, which presumably had another cause of activation of the testicular differentiation cascade. Clinically, 46XX men resemble KF men and present with small firm testes, hypogonadism, and azoospermia. However, unlike KF, the azoospermia in 46XX men is due to complete absence of genes located in AZF regions. Accordingly, these patients have no chance of successful testicular sperm retrieval [4].
Systematic review of hormone replacement therapy in the infertile man
Published in Arab Journal of Urology, 2018
Amr El Meliegy, Ahmad Motawi, Mohamed Ahmed Abd El Salam
The term primary hypergonadotrophic hypogonadism refers to testicular disorders and is characterised by low serum testosterone despite high levels of FSH and LH. Low testosterone production results in impaired spermatogenesis (primary testicular failure) as seen in congenital anorchia, undescended testis, Sertoli cell only syndrome (germ cell aplasia), or after testicular injury from trauma, infection, surgery, exposure to chemo/radiotherapy or drug induced (e.g. ketoconazole, flutamide, spironolactone, etc.). In addition, genetic causes for primary testicular failure are described such as numerical chromosome aberrations including: Klinefelter syndrome, XX-male syndrome, XYY syndrome and Y chromosome microdeletions [16].
Contemporary genetics-based diagnostics of male infertility
Published in Expert Review of Molecular Diagnostics, 2019
Alberto Ferlin, Savina Dipresa, Andrea Delbarba, Filippo Maffezzoni, Teresa Porcelli, Carlo Cappelli, Carlo Foresta
Aneuploidies are defined by an abnormal number of chromosomes with respect to the euploid state (46,XY or 46,XX). The most frequent aneuploidies detected in infertile men involve the sex chromosomes, examples include the Klinefelter syndrome (at least one extra X chromosome), mixed gonadal dysgenesis (45,X/46,XY), and the 46,XX male syndrome.