Article

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

2015-04-01

Abstract excerpt

Abstract: Disorders of sex development (DSD) are a group of rare conditions that usually present with atypical genitalia in the newborn period or as delayed puberty in an adolescent. Although a concern about the development of external genitalia may exist in one in 300 newborn infants, discrete genetic conditions that underlie DSD are generally rarely identified. It is likely that this diagnostic gap exists for a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ae1b4443-2d30-56f7-849c-d9ae447fef42
DOI: 10.2147/agg.s53226

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Disorders of sex development: advances in genetic diagnosis and challenges in managementDOI 10.2147/agg.s53226Read

Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.Semantic proximity Read

Genetic approach to ambiguous genitalia and disorders of sex development: What clinicians need to know.Semantic proximity Read

Establishing a Molecular Genetic Diagnosis in Children with Differences of Sex Development: A Clinical Approach.Semantic proximity Read

Genomic technologies and the diagnosis of 46, XY differences of sex developmentSemantic proximity Read

DSDs: genetics, underlying pathologies and psychosexual differentiation.Semantic proximity Read

Towards improved genetic diagnosis of human differences of sex development.Semantic proximity Read

The current state of diagnostic genetics for conditions affecting sex developmentSemantic proximity Read

Overview of genetics of disorders of sexual development.Semantic proximity Read

[Disorders of sex development].Semantic proximity Read

Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?Semantic proximity Read

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variantsSemantic proximity Read

Update on disorders of sex developmentSemantic proximity Read