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Special Issue "Molecular Aspects of Sex Development in Mammals: New Insight"
Deadline for manuscript submissions: 31 January 2020.
Adolescent Medicine, Pediatric Division, Department of Obstetrics, Gynecology and Pediatrics, Azienda Ospedaliero-Universitaria Pisana, I-56126 Pisa, Italy
Tel. +39-050-992.743; Fax: +39-50-992.641
Interests: pediatric and adolescent andrology; pediatric and adolescent gynecology; puberty, precocious puberty; delayed puberty; Klinefelter syndrome; Kallman syndrome; gonadal dysgenesis; disorders of sex development; androgen insensitivity syndrome; bone health; Turner syndrome; HOX deficiency; androgen hormones
Dr. Laura Audì
Growth and Development Research Unit, Vall d’Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain
Interests: Genetics of rare endocrine diseases
Prof. Dr. Christa Flück
Pediatric Endocrinology, Diabetology and Metabolism, Department of BioMedical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
Interests: Steroid hormone defects, DSD
The mechanisms producing males and females via sexuate reproduction have fascinated humans since ancient times, but only since the last century and especially through immense efforts in genetics-related knowledge of the molecular mechanisms governing sex development and dimorphism in humans and in other mammals have they been elucidated. It is now clear that early events during embryogenesis controlled by master sex-determining genes (GSD) trigger both male and female sex-specific pathways. New genetic and analytical methods permitted the discovery of these male and female sex pathways and allowed one to understand the molecular basis of disorders (or differences) of sex development (DSD). This Special Issue aims to provide an update of current knowledge in the field of DSD by review articles and original research papers. Manuscripts on the molecular mechanisms of sex development, on their phenotypic expression and pathogenetic background, as well as on new techniques to explore DSD in clinical practice are welcome.
Dr. Silvano Bertelloni
Dr. Laura Audì
Prof. Dr. Christa Flück
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.
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Predicting gonadal cancer in people with disorders of sex development; omics-based approaches
Yolande van Bever, Leendert Looijenga
The risk of development of a gonadal germ cell cancer (GGCC) is increased in selective subgroups of patients with Disorders of Sex Development (DSD). This is related to the presence of a part of the Y chromosome, i.e., the GBY region, as well as the anatomical localization and degree of testicularization and maturation of the gonad. The latter specifically relates to the germ cells present, being at risk when blocked in an embryonic stage of development. The cancer originates from either Germ Cell Neoplasia In situ (in a testicular environment) or Gonadoblastoma (in an ovarian-like environment). These precursors are characterized by the presence of the pluripotency markers OCT3/4 (POU5F1), SOX17, NANOG, as well as TSPY and cKIT and its ligand KITLG. One of the aims is to stratify patients with an increased risk based on other parameters than histological investigation of a gonadal biopsy. These might include evaluation of defined susceptibility alleles, as identified by Genome Wide Association Studies (GWAS), and detailed evaluation of the molecular mechanism underlying the DSD in the individual patient, combined with mRNA and microRNA profiling of liquid biopsies. This review will discuss the current opportunities as well as limitations of the modern omics approaches in the context of predicting the risk of GGCC in individual patients.
NR5A1/SF variants: clinical phenotypes
by S. Bertelloni et al.
Molecular pathways of mammalian ovarian differentiation
by A. Biason-Lauber
Pluripotent cell models for DSD research
by A. Biason-Lauber
Molecular characterization of XX maleness
by R. Rey
46,xx DSD in monogenic disorders of steroidogenesis: genetics, biochemistry and clinical features
by A. Balsamo
Newer forms of DSD – PORD and AKR1C2/4
by C. Flück
Genetic work-up of DSD 2019
by A. Bashamboo
Digenic/Oligogenic inheritance in DSD
by C. Flück, and L. Audí
Brain sex differentiation: genes or hormones?
by M. Maggi
The insulin-like growth factor family and its role in mediating the development and function of testes and ovaries
by S. Nef
The role of international databases in understanding the aetiology & consequences of DSD
by F. Ahmed
The clinical role of sex steroid analysis in diagnosis and monitoring
by N. Krone