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Article

Fetal Genotype-Phenotype Sex Discordance: A Case of 5-Alpha-Reductase Deficiency.

Fetal and pediatric pathology - 1 Oct 2022

Sepulveda Waldo, Seiltgens Cristian, Betancourt Eduardo, Mangiamarchi Monica

Abstract excerpt

OBJECTIVE: To describe the prenatal and postnatal diagnostic workup leading to the diagnosis of 5-alpha-reductase type 2 deficiency (5AR2D) in a case of 46,XY disorder of sex development (DSD). CASE REPORT: A first-trimester noninvasive prenatal test (NIPT) on maternal blood revealed a male fetus with a low risk of aneuploidy. However, a female fetus was identified at the second-trimester scan. A repeat sample...

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PMID: 34251982
DOI: 10.1080/15513815.2021.1948645

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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