Molecular Genetics of Disorders of Sex Development

Dear Colleagues, 

In the embryo, sex development is a multi-step process that involves a complex network of genetic and hormonal factors. Usually, in the presence of an XY karyotype, the SRY (sex determining region on the Y chromosome) and related gene network promote the formation of a functional testis (sex determination). Then, the hormones produced by the testis guide the development of the male genital phenotype (sex differentiation). In XX foetuses, due to the absence of SRY, the pro-ovarian gene network determines the differentiation of the female gonad and the pro-testis gene downregulation. Since the ovary does not secrete AMH and androgens, female internal and external genitalia develop.

Disorders (or differences) of sex development (DSD) are congenital conditions characterized by the atypical development of genetic, gonadal or phenotypic sex. DSDs include a wide spectrum of conditions mostly due to genetic variants, altered hormonal secretion or abnormal peripheral sensitivity to gonadal hormones, which are all able to change the typical male or female foetal development. Today, the improvement of genetic and endocrinological technologies permits the etiological diagnosis in 50–80% of individuals with DSD. However, an exact diagnosis remains unknown in some patients, in whom variants of uncertain pathogenicity or endocrine data of uncertain significance are found. In addition, rare patients with new or unusual laboratory or clinical findings are observed in practice.

Dr. Silvano Bertelloni
Prof. Dr. Malgorzata Gabriela Wasniewska
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 submissions that pass pre-check are 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 250 words) can be sent to the Editorial Office for assessment.

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.