Disorders of sex development: advances in genetic diagnosis and challenges in management

• DOI: 10.2147/agg.s53226
• Publication Date: 2015-04-08T18:59:10Z
• Authors: Faisal Ahmed; Andreas Kyriakou; Edward Tobias; Angela Lucas-Herald; Ruth McGowan
• Keywords: Ambiguous genitalia; Genetic diagnosis; Rare disease

Abstract: Disorders of sex development (DSD) are a group rare conditions that usually present with atypical genitalia in the newborn period or as delayed puberty an adolescent. Although concern about external may exist one 300 infants, discrete genetic underlie DSD generally rarely identified. It is likely this diagnostic gap exists for number reasons and these include inadequate knowledge pathogenesis underlying mechanisms lead to DSD, variation assessment in-depth phenotyping conditions, availability quality accredited laboratories and, lastly, limited awareness value molecular diagnosis improving short-term long-term care affected person. Keywords: genetics, novel, disease, genomics, NGS