Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in both the PDF and HTML versions of the Article to read 'A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'

Apport de l'autoconservation de sperme dans la prise en charge des oligozoospermies extrêmes (étude rétrospective à propos de 75 patients)

LILLE2-BU Santé-Recherche (593502101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Recherche d'anti-corps anti-spermatozoïdes par méthode directe et indirecte en cytométrie de flux couplée à l'immunofluorescene (technique et intérêt pratique)

POITIERS-BU Médecine pharmacie (861942103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Telomere Length, a New Biomarker of Male (in)Fertility? A Systematic Review of the Literature

Male factors are suspected in around half cases of infertility, of which up to 40% are diagnosed as idiopathic. In the context of a continuously increased resort to ART and increased decline of semen parameters, it is of greatest interest to evaluate an additional potential biomarker of sperm quality. According to PRISMA guidelines, this systematic review of the literature selected studies evaluating telomere length in sperm and/or in leukocytes as a potential male fertility biomarker. Twenty-two publications (3168 participants) were included in this review of experimental evidence. For each study, authors determined if there was a correlation between telomere length and semen parameters or fertility outcomes. Of the 13 studies concerning sperm telomere length (STL) and semen parameters, ten found an association between short STL and altered parameters. Concerning the impact of STL on ART results, the data are conflicting. However, eight of the 13 included studies about fertility found significantly longer sperm telomeres in fertile men than in infertile men. In leukocytes, the seven studies reported conflicting findings. Shorter sperm telomeres appear to be associated with altered semen parameters or male infertility. Telomere length may be considered as a new molecular marker of spermatogenesis and sperm quality, and thus is related to male fertility potential. However, additional studies are needed to define the place of the STL in the assessment of individual fertility.</jats:p

Endometriosis: Update of Pathophysiology, (Epi) Genetic and Environmental Involvement

Endometriosis is a chronic disease caused by ectopic endometrial tissue. Endometriotic implants induce inflammation, leading to chronic pain and impaired fertility. Characterized by their dependence on estradiol (via estrogen receptor &beta; (ESR&beta;)) and their resistance to progesterone, endometriotic implants produce their own source of estradiol through active aromatase. Steroidogenic factor-1 (SF1) is a key transcription factor that promotes aromatase synthesis. The expression of SF1 and ESR&beta; is enhanced by the demethylation of their promoter in progenitor cells of the female reproductive system. High local concentrations of estrogen are involved in the chronic inflammatory environment favoring the implantation and development of endometriotic implants. Similar local conditions can promote, directly and indirectly, the appearance and development of genital cancer. Recently, certain components of the microbiota have been identified as potentially promoting a high level of estrogen in the blood. Many environmental factors are also suspected of increasing the estrogen concentration, especially prenatal exposure to estrogen-like endocrine disruptors such as DES and bisphenol A. Phthalates are also suspected of promoting endometriosis but throughmeans other than binding to estradiol receptors. The impact of dioxin or tobacco seems to be more controversial

Endometriosis: Update of Pathophysiology, (Epi) Genetic and Environmental Involvement

Endometriosis is a chronic disease caused by ectopic endometrial tissue. Endometriotic implants induce inflammation, leading to chronic pain and impaired fertility. Characterized by their dependence on estradiol (via estrogen receptor β (ESRβ)) and their resistance to progesterone, endometriotic implants produce their own source of estradiol through active aromatase. Steroidogenic factor-1 (SF1) is a key transcription factor that promotes aromatase synthesis. The expression of SF1 and ESRβ is enhanced by the demethylation of their promoter in progenitor cells of the female reproductive system. High local concentrations of estrogen are involved in the chronic inflammatory environment favoring the implantation and development of endometriotic implants. Similar local conditions can promote, directly and indirectly, the appearance and development of genital cancer. Recently, certain components of the microbiota have been identified as potentially promoting a high level of estrogen in the blood. Many environmental factors are also suspected of increasing the estrogen concentration, especially prenatal exposure to estrogen-like endocrine disruptors such as DES and bisphenol A. Phthalates are also suspected of promoting endometriosis but throughmeans other than binding to estradiol receptors. The impact of dioxin or tobacco seems to be more controversial.</jats:p

L'acrosome : Développement et comparaison entre espèces, apport d'un cas familial de globozoospermie

L'acrosome spermatique est connu pour son rôle dans la fécondation dans la grande majorité des espèces animales étudiées. On peut estimer l'apparition de l'acrosome, contemporaine de l'avènement d'une fécondation hors du milieu aquatique. La composition chimique de l'acrosome ainsi que son mode d'excrétion pourraient le faire considérer comme un simple lysosome. Cela serait nier son important rôle morphogénique dans la spermiogenèse. En effet, son développement est étroitement lié à celui de la manchette et de son système microtubulaire. Grâce aux récentes données de mutagenèse animale, la biogenèse de l'acrosome dévoile pas à pas ses mécanismes. La globozoospermie, tératozoospermie humaine rare mais cause d'infertilité sévère, est caractérisée par des têtes spermatiques globuleuses, dépourvues d'acrosome. Elle est l'illustration d'un défaut de biogenèse acrosomiale. Récemment, l'étude génétique d'une famille présentant des frères globozoospermiques et des frères fertiles a permis la mise en évidence d'une mutation du gène SPATA16 responsable à l'état homozygote du phénotype de globozoospermie. Cette étude ajoute une protéine à la liste de celles impliquées dans la formation de l'acrosome humain

Sleeping Spermatozoa: The Symbolism of Gamete Cryopreservation in the Context of Cancer in AYAs

For adolescents and young adults (AYAs) with cancer, fertility preservation is recommended before starting gonadotoxic treatments. This is an important aspect of psychological support in the treatment of the disease. However, the enormous psychological impact of this procedure on adolescents and young adults with cancer needs to be addressed by professionals. The traumatic nature of cancer diagnosis disrupts the psychosocial development of AYAs. A young adolescent’s perception of reproduction, and in particular of sperm freezing, is greatly altered by the disease. For a teenager, the success of sperm banking results from a positive balance between facilitators and barriers, which are mentioned here. Moreover, this article proposes a symbolic interpretation of sperm banking, referring to landmarks integrated during childhood, especially in fairytales. Furthermore, it offers an original video documentary that can be used as an information support to help AYAs adhere to the process of preserving their fertility through sperm freezing

Hypogonadotropic hypogonadism in men with hereditary hemochromatosis

Résumé L’Hémochromatose Héréditaire est. une maladie génétique qui évolue en silence. Son diagnostic est. souvent fait tardivement, au stade des complications. Même si son incidence diminue, l’Hypogonadisme Hypogonadotrope (HH) est. l’une des complications classiques de l’Hémochromatose. Ceci est. probablement le résultat d’un diagnostic plus précoce, d’une meilleure information des médecins. Certains symptômes en lien avec l’HH, peuvent avoir un impact sur la sexualité (diminution de la libido, dysfonction érectile ou troubles de l’éjaculation…) ainsi que sur la reproduction. Cette revue repose sur une recherche online en langue anglaise, française et allemande de publications disponibles sur PubMed/Medline, jusqu’au 23 sept. 2016 à partir des mots clés suivants: infertilité masculine, hypogonadisme hypogonadotrope, Hémochromatose Héréditaire. Trente quatre publications ont satisfait aux critères de sélection. Cet article de revue décrit l’impact d’une surcharge en fer sur la fertilité masculine, notamment via l’Hypogonadisme Hypogonadotrope qu’elle induit et propose des modalités de traitement