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

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.

Diagnóstico ultrasonográfico de hidrocele in utero / Ultrasound diagnosis of hydrocele in utero

Se detectaron 25 casos de hidrocele fetal sobre un total de 261 exploraciones ultrasonográficas del escroto fetal (9.6%). La frecuencia del hidrocele fetal aumenta a medida que aumenta la edad gestacional, alcanzando un 20% en fetos de término. En un 20% el hidrocele fue unilateral y en un 8% se consideró voluminoso. Se comprobó el hallazgo ultrasonográfico en un 67% de los recién nacidos. Se propone informar el hidrocele fetal en caso de ser voluminoso o estar asociado a otras malformaciones, ya que en caso contrario carece de importancia clínica la mayoría de las veces. La ultrasonografía es un excelente método para detectar patología inguino-escrotal in utero