Scholarlink

Background <p>Disorders of Sex Development (DSD) are a group of conditions associated with atypical development of internal and external genitalia. Identifying the underlying cause of DSD is crucial for diagnosis and long-term individualized approach for management and counselling. Social issues which are major obstacles in individuals with DSD include sex/gender identification, obtaining birth certificate, school registration, national identity card and finding an appropriate job. In DSD, the most important problem is gender assignment and subsequent decision of treatment with medication, hormonal therapy and surgery.</p> Case presentation <p>Three patients with DSD were selected from our clinic because of very late consultation and complex psychological problem. These cases were Complete Androgen Insensivity syndrome (CAIS), Congenital Adrenal Hyperplasia (CAH) and <i>DAX-1</i> duplication with suffering of gender dysphoria. They were late identified therefore chromosomal and molecular examination were carried out when puberty was reached.</p> Conclusion <p>Genetic counsellors play an important role in addressing the issues of individuals with DSD and their families. To the best of our knowledge this is the first genetic counseling assessment on late identified DSD cases. They would take into account while counseling, the cultural, religious, psychosocial and legal issues. Genetic counsellors would also consider family views and choices before offering the appropriate management and treatment options. This paper highlights the genetic counselling aspects for individuals with DSD and their families in countries with a conservative cultural and religious milieu.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Genetic counselling of disorders of sex development (DSD) in low middle income country (LMIC): case studies

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年3月20日

查看全文
  • Sultana Faradz,
  • Ziske Maritska,
  • Sreelatha Komandur,
  • Qurratulain Annie Hasan

摘要

Background

Disorders of Sex Development (DSD) are a group of conditions associated with atypical development of internal and external genitalia. Identifying the underlying cause of DSD is crucial for diagnosis and long-term individualized approach for management and counselling. Social issues which are major obstacles in individuals with DSD include sex/gender identification, obtaining birth certificate, school registration, national identity card and finding an appropriate job. In DSD, the most important problem is gender assignment and subsequent decision of treatment with medication, hormonal therapy and surgery.

Case presentation

Three patients with DSD were selected from our clinic because of very late consultation and complex psychological problem. These cases were Complete Androgen Insensivity syndrome (CAIS), Congenital Adrenal Hyperplasia (CAH) and DAX-1 duplication with suffering of gender dysphoria. They were late identified therefore chromosomal and molecular examination were carried out when puberty was reached.

Conclusion

Genetic counsellors play an important role in addressing the issues of individuals with DSD and their families. To the best of our knowledge this is the first genetic counseling assessment on late identified DSD cases. They would take into account while counseling, the cultural, religious, psychosocial and legal issues. Genetic counsellors would also consider family views and choices before offering the appropriate management and treatment options. This paper highlights the genetic counselling aspects for individuals with DSD and their families in countries with a conservative cultural and religious milieu.