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Special Issue "Novel Physiology and Molecular Pathology of Reproduction, Novel Treatments of Infertility"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".

Deadline for manuscript submissions: closed (31 January 2020).

Special Issue Editors

Prof. Dr. Micheline Misrahi
E-Mail Website
Guest Editor
Biochemistry and Molecular Biology Faculty of Medicine; University Paris-South Molecular Genetics of Reproductive and Metabolic diseases Bicetre Hospital, France
Interests: Molecular and cellular mechanisms in Reproductive Endocrinology; Nuclear receptors; membrane receptors; Gonadotropins and their receptors; Thyrotropin receptor; Reproductive genetics; Genetics of male and female infertility; Primary ovarian insufficiency; Disorders of puberty; Genetic diseases of GPCR
Prof. Dr. Ilpo Huhtaniemi
E-Mail Website
Guest Editor
Institute of Reproductive and Developmental Biology, Department of Surgery & Cancer, Imperial College London, Hammersmith Campus, Du Canoe Roan London W12 0NN, UK
Interests: Gonadotrophin action; G-Protein coupled receptor signalling in reproduction and cancer; Physiology and pathophysiology of the hypothalamic-pituitary-gonadal axis; Male contraception; Endocrinology of ageing

Special Issue Information

Dear Colleagues,

Despite the major developments that have taken place in the field in the last few decades, infertility still poses a major diagnostic and therapeutic challenge, and overall, less than 50% of couples attending infertility treatments can be helped. About 1 out of 7 couples have difficulties to conceive, and the figure is bound to increase due to the demographic change with regard to the increase in maternal age when acquiring children. Very roughly, in about 1/3 of couples, the cause of infertility can be traced back to the female side, 1/3 to the male side, and in 1/3 of cases, the cause can be found in both. Primary ovarian insufficiency (POI) affects ~1% of women before they reach 40 years of age. The most frustrating cases are idiopathic (15–30% of couples), where no cause and no rational treatment can be offered. For these reasons, new information about the pathogenesis, diagnosis, and treatment of male and female infertility is urgently needed. This Special Issue aims to review recent research on male and female infertility. The recent leap in genetic knowledge obtained through next-generation sequencing (NGS) together with animal models has further elucidated their molecular pathogenesis, identifying novel genes/pathways. Mutations of >60 genes or more than 100 genes in isolated female and male infertility, respectively, emphasize the high genetic heterogeneity. NGS will provide a genetic diagnosis leading to genetic/therapeutic counseling. Defects in meiosis or DNA repair genes may predispose to tumors. Specific gene mutations may predict the risk of a rapid loss of a persistent ovarian reserve in women, an important determinant in fertility preservation. Novel physiology and newly identified regulators of ovarian folliculogenesis and ovulation will be developed. Novel mechanisms that regulate the activation of primordial follicles have been unraveled, and they lead to innovative treatments. Indeed, a recent treatment of POI by in vitro activation of dormant follicles (IVA) proved successful. Other innovative treatments are in development (e.g., stem cells). On the male side, the latest data on hormonal regulation of spermatogenesis, genetic and epigenetic approaches to addressing idiopathic failure of spermatogenesis, attempts to achieve in vitro spermatogenesis, the effect of general health on male fertility, and new treatment modalities and their outcome will be reviewed.

Prof. Dr. Micheline Misrahi
Prof. Dr. Ilpo Huhtaniemi
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • Spermatogenesis
  • Infertility
  • Hypothalamic–pituitary–gonadal axis
  • In vitro fertilization (IVF)
  • Intracytoplasmic sperm injection (ICVSI)
  • Hypogonadism
  • Primary ovarian insufficiency
  • Next generation sequencing
  • Meiosis
  • DNA repair
  • In vitro activation of dormant follicles (IVA)
  • Stem cells

Published Papers (1 paper)

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Open AccessArticle
Cbx2, a PcG Family Gene, Plays a Regulatory Role in Medaka Gonadal Development
Int. J. Mol. Sci. 2020, 21(4), 1288; https://doi.org/10.3390/ijms21041288 (registering DOI) - 14 Feb 2020
Chromobox homolog 2 (CBX2), a key member of the polycomb group (PcG) family, is essential for gonadal development in mammals. A functional deficiency or genetic mutation in cbx2 can lead to sex reversal in mice and humans. However, little is known about the [...] Read more.
Chromobox homolog 2 (CBX2), a key member of the polycomb group (PcG) family, is essential for gonadal development in mammals. A functional deficiency or genetic mutation in cbx2 can lead to sex reversal in mice and humans. However, little is known about the function of cbx2 in gonadal development in fish. In this study, the cbx2 gene was identified in medaka, which is a model species for the study of gonadal development in fish. Transcription of cbx2 was abundant in the gonads, with testicular levels relatively higher than ovarian levels. In situ hybridization (ISH) revealed that cbx2 mRNA was predominately localized in spermatogonia and spermatocytes, and was also observed in oocytes at stages I, II, and III. Furthermore, cbx2 and vasa (a marker gene) were co-localized in germ cells by fluorescent in situ hybridization (FISH). After cbx2 knockdown in the gonads by RNA interference (RNAi), the sex-related genes, including sox9 and foxl2, were influenced. These results suggest that cbx2 not only plays a positive role in spermatogenesis and oogenesis but is also involved in gonadal differentiation through regulating the expression levels of sex-related genes in fish. Full article
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