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Monogenic forms of DSD: An update Ken Mcelreavey, Anu BashambooTo cite this version: Ken Mcelreavey, Anu Bashamboo. Monogenic forms of DSD: An update. Hormone Research in Paediatrics, 2021, 10.1159/000521381.
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Obtain a monogenic form of DSD testing kit from a reputable healthcare provider or genetics laboratory.
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Follow the instructions provided in the testing kit for collecting a sample (usually a blood sample) from the individual suspected to have a monogenic form of DSD.
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Consult with a healthcare provider or genetic counselor to understand the results and discuss any necessary treatment or management options.

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Individuals who have symptoms of a monogenic form of DSD and want to confirm their diagnosis.
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Individuals with a family history of monogenic forms of DSD and are at increased risk of inheriting the condition.
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Healthcare providers and genetic counselors who are involved in diagnosing and managing individuals with DSD.
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Monogenic forms of dsd refer to disorders of sexual development that are caused by mutations in a single gene, affecting the development of sexual characteristics and reproductive organs.
Typically, healthcare providers, genetic counselors, and research institutions working with patients who have diagnosed monogenic disorders of sexual development are required to file monogenic forms of dsd.
To fill out monogenic forms of dsd, one must collect relevant patient information including medical history, genetic test results, and clinical findings, and accurately complete all sections of the form in accordance with the provided guidelines.
The purpose of monogenic forms of dsd is to collect consistent data on cases of sexual development disorders caused by genetic factors, facilitating research, diagnosis, treatment planning, and public health monitoring.
Information that must be reported includes patient demographics, clinical symptoms, genetic testing results, medical interventions, and family history relevant to the disorder.
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