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- Title
Síndrome de Insensibilidad Androgénica: presentación de un caso de discordancia entre ecografía pre y postnatal y estudios genéticos moleculares.
- Authors
Chung, Mirna; Herrera, Indira; Mendez-Rios, Jorge D.; Orobio, Allisan; Manzano, Miguel; Herrera, Tania T.
- Abstract
Introduction: Androgen insensitivity syndrome is a genetic disorder and a type of sexual development disorder. It is characterized by the evident feminization of the external genitalia at birth in an individual with the 46, XY genotype. Aim: To present the clinic, molecular studies, obstetric ultrasonography of the first trimester and ultrasound of the newborn with sexual differentiation disorder. Clinic case: 35-year-old female with third pregnancy, singleton fetus, with extended non-invasive prenatal genetic screening for chromosomal aneuploidies and fetal sex determination at week 11 of gestation with male genetic sex, ultrasound with genital tubercle angle less than 30° indicative of female phenotypic sex and postnatal ultrasound with male gonadal sex. Genetic molecular panel with a pathogenic variant for the AR gene, in hemi zygosis. Conclusion: Early detection of phenotype-genotype sexual discordance is important as it may indicate an underlying genetic, chromosomal, or biochemical condition, allowing timely critical counseling and postnatal treatment.
- Subjects
SEX differentiation disorders; SEX (Biology); ANDROGEN-insensitivity syndrome; PRENATAL genetic testing; SEX determination; ULTRASONICS in obstetrics; GONAD development
- Publication
Revista Médica de Panamá, 2022, Vol 42, Issue 3, p15
- ISSN
0379-1629
- Publication type
Article
- DOI
10.37980/im.journal.rmdp.20221915