Fetal Genotype-Phenotype Sex Discordance: A Case of 5-Alpha-Reductase Deficiency
| Autor: | Monica Mangiamarchi, Waldo Sepulveda, Cristian Seiltgens, Eduardo Betancourt |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
Male fetus Steroid Metabolism Inborn Errors Genotype Aneuploidy Physiology Pathology and Forensic Medicine Genotype phenotype Female fetus 3-Oxo-5-alpha-Steroid 4-Dehydrogenase Pregnancy Prenatal Diagnosis Humans Medicine Hypospadias Fetus Vanishing twin Disorder of Sex Development 46 XY business.industry Female external genitalia 5-Alpha-Reductase Deficiency General Medicine medicine.disease Phenotype Pediatrics Perinatology and Child Health Female business |
| Zdroj: | Fetal and Pediatric Pathology. 41:794-799 |
| ISSN: | 1551-3823 1551-3815 |
| DOI: | 10.1080/15513815.2021.1948645 |
| Popis: | 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 revealed similar results and ruled out the possibility of both a sample swap or a vanishing twin. At birth, phenotypically female external genitalia were evident, with testes noted in the labioscrotal area. Neonatal blood confirmed a 46,XY complement and a 46,XY DSD genetic panel revealed a 5AR2D. Conclusion Our case and others described in the literature demonstrate that fetal sex discordance detected by a combination of NIPT and subsequent ultrasound examination can be associated with several biological conditions, with DSD being the most significant. |
| Databáze: | OpenAIRE |
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