Differences / Disorders in Sex Development

Differences / Disorders of Sex Development (DSD) is an umbrella term describing a congenital condition in which development of chromosomal, gonadal or anatomical sex is atypical. Previously these conditions were referred to as “intersex disorders” or “hermaphrodite” which are offensive and thus no longer used. Their clinical presentations vary ; some present with ambiguous genitalia at birth or with abnormal pubertal changes later on. They may be born with a typically male / female phenotype but internal anatomy may be discordant. These conditions are classified according to their karyotype; 46,XY DSD, 46, XX DSD or Sex Chromosomal DSDs.

There are presently a lot of research done on the different DSD conditions all over the world. Research on causes and pathophysiology, on genetic variabilities, on management issues and controversies and recent advances in treatment modalities. Research also on physical and mental health outcomes and on the social issues which are often associated with these conditions such as stigmatization which are intricately affected by different cultural values and beliefs in different countries. Patient and family outcomes are also affected by lack of knowledge of these conditions not just by laymen but also healthcare providers as these conditions are rarely mentioned in medical school syllabus. In low- resource countries, their problems increase manifold due to poor access to healthcare and late diagnoses and delayed treatment.

The goal of this Research Topic is to showcase the research projects on different aspects of different DSD conditions from different countries.

Specific themes we would like contributors to address include, but are not limited to:
• The ethics of genitoplasties, of gonadectomies, of genital examination
• Resource needs of parents with DSD children
• Profiles of XY females
• Cultural issues in management of babies with ambiguous genitalia
• Cultural issues that impact the care of people with DSD
• Managing pregnancies in CAH patients
• Investigating the bone mineral density of patients with DSD on hormonal treatment
• The genetic variability of different DSD conditions
• Quality of life of Patients with Turner syndrome and other DSD conditions

Please note, for submissions to Frontiers in Reproductive Health -Adolescent Reproductive Health and Well-Being section, non-human studies are out of scope and will not be accepted.