Endocrine Abstracts

Purpose: Disorders of sex development (DSD) are defined as having, ‘A chromosome, germinal gland, or anatomical structure that is atypical in the native state’. There are two types of patients with DSD who consult a gynecologist: patients diagnosed in childhood (group A), and patients diagnosed based on unusual secondary sex characteristics in adolescence (group B). In group A, gynecologists are required as a member of a multidisciplinary medical team for DSD. On the other hand, in B group they should take the initiative in the diagnosis, treatment, and follow-up for unusual presentations of secondary sex characteristics. To examine the status of the management of DSD patients, a retrospective analysis was conducted.

Methods: In total, 106 patients with DSD who consulted in our department were enrolled in this study with their consent. Clinical data were extracted from their medical records.

Results: There were 53 patients (50%) in group A, most of whom (45 patients, 84.9%) had Turner syndrome and who were referred by pediatricians for hormone replacement therapy (HRT). There were 53 patients (50%) in group B, of whom 15 patients had an abnormality of the uterus and vagina, ten had Rokitansky syndrome, and eight had androgen insensitivity syndrome. All patients in group B were referred by gynecologists in other hospitals for diagnosis, medical treatment, and follow-up of primary amenorrhea. HRT was administered to most patients in group A while surgical treatments, such as removal of vaginal septum, vaginoplasty or prophylactic gonadectomy were performed.

Conclusion: In our department, the percentage of DSD patients diagnosed in childhood and in adolescence were the same (50%). It was demonstrated that management based on the individual anatomical or functional abnormality was important. DSD patients also require reproductive care, such as management of ovarian function and fecundity by gynecologists throughout their life.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.