Disorders of sexual differentiation: I. Genetics and pathology
| Autor: | Mohamed El-Sherbiny |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
medicine.medical_specialty
WT-1 Wilms’ tumour-1 gene Chicago Consensus Urology MIS Müllerian-inhibiting substance Psychosexual development Gonadal malignancy Terminology Pediatric Urology Review SF-1 steroidogenic factor 1 CAH - Congenital adrenal hyperplasia HCG - Human chorionic gonadotrophin Molecular genetics medicine DSD disorder(s) of sexual differentiation Gynecology Sexual differentiation PMDS persistent Müllerian duct syndrome business.industry SRY sex-determining region on the Y chromosome CAH congenital adrenal hyperplasia Sex chromosomes Classification MGD mixed gonadal dysgenesis Intersex CIS carcinoma in situ business CAIS complete androgen insensitivity syndrome Clinical psychology hCG human chorionic gonadotrophin |
| Zdroj: | Arab Journal of Urology |
| ISSN: | 2090-598X |
| DOI: | 10.1016/j.aju.2012.11.005 |
| Popis: | Objectives To provide a summary of the recent major advances in the field of molecular genetics and understanding of psychosexual development, as these developments have resulted in changes in terminology and classification of disorders of sexual differentiation (DSD)/intersex; and to provide a quick and simplified review of the basic information. Methods Recent publications (over the last 10 years) were identified by a PubMed search, as were relevant previous studies, using the keywords; ‘sex chromosomes’, ‘psychosexual development’, ‘classifications’, ‘disorders of sexual differentiation’, ‘Chicago consensus’, ‘gonadal malignancy’, ‘intersex’ and ‘ambiguous genitalia’. Results The newly proposed terminology and classification has eliminated some confusion for both patient and family, as well as among health professionals. The new advances have facilitated the categorisation of gonadal malignancy in patients with DSD into high-, intermediate- and low-risk groups. Conclusions The major changes in terminology and classification of DSD should be considered as the first steps on a long road of research effort. The current available data remain far from sufficient. More molecular genetics studies will allow a better understanding of the causes of each condition of DSD. |
| Databáze: | OpenAIRE |
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