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research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants

13 citations , June 2024 in “Frontiers in Genetics”

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

July 2021 in “Advances in laboratory medicine”

Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.

research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development

2 citations , September 2024 in “Asian Journal of Andrology”

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A Case Report from a Low-Resource Setting

research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting

September 2022 in “Annals of medicine and surgery”

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

1 citations , August 2015 in “AACE Clinical Case Reports”

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

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community Liquid Chromatography–Mass Spectrometry (LC-MS) VS Enzyme-Linked Immunosorbent Assay (ELISA)

in Research/Science 4 upvotes 1 year ago

Finasteride and Nizoral shampoo with Ketoconazole are used for hair loss treatment. Liquid Chromatography–Mass Spectrometry (LC-MS) is recommended over Enzyme-Linked Immunosorbent Assay (ELISA) for more accurate DHT testing.

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