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1. Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report American Journal of Case Reports · 2025
2. 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 Annals of medicine and surgery · 2022
3. ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic Journal of the Endocrine Society · 2022
4. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene The Journal of Clinical Endocrinology & Metabolism · 2003 · 174 citations
5. SUN-069 A 14 Year Old Female with Primary Amenorrhea Journal of the Endocrine Society · 2020
6. Index of Suspicion Pediatrics in Review · 2006
7. SAT-213 Late Diagnosis of Complete Androgen Insensitivity Journal of the Endocrine Society · 2019
8. A Teenage Girl with Unexpected Pubertal Changes Clinical chemistry · 2018 · 1 citations
9. 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient AACE clinical case reports · 2022 · 1 citations
10. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations

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