Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis

Abstract

With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding. We wish to present the diagnosis of a prenatal index case after NIPT of cell-free fetal DNA and mismatch between fetal sex and ultrasound phenotype. In this particular case, the molecular analysis of the androgen receptor (AR) gene showed the presence of a pathogenic mutation, not previously reported, consistent with complete androgen insensitivity syndrome. Carrier testing for the mother revealed the presence of the same variant, confirming maternal hemizygous inheritance. Identification of the molecular basis of these genetic conditions enables the preimplantation or prenatal diagnosis in future pregnancies.

Síndrome de insensibilidad completa a andrógenos

“…Las mujeres que no aceptan la gonadectomía deben mantener un seguimiento anual, debido al riesgo de degeneración maligna, con ultrasonido pélvico y resonancia magnética abdomino-pélvico para evaluar el tamaño y localización de las gónadas, además de la verificación de los marcadores tumorales como alfa feto proteína, gonadotropina coriónica humana fracción beta y lactato deshidrogena 16 .…”

A Case of Familial Complete Androgen Insensitivity Syndrome- Baby with Three Mothers and the Daughter shows the Mother - Challenges and Threats in Advanced Assisted Reproduction Technology

“…The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding [6].…”

Early diagnosis of androgen insensitivity syndrome with cell‐free fetal DNA screening: A case report

“…Some cases of early CAIS identification were diagnosed early using cfDNA but specific indications were present to undergo this test, including a family history of CAIS 2 or as an abnormal first trimester combined screening follow-up test. 3,4 One study using cfDNA and mid-trimester ultrasound found that seven pregnancies of 12 919 women (0.05%) resulted in genotype-phenotype sex discordance. 5 Another study with 1 301 117 cfDNA cases found 91 cases of genotype-phenotype sex discordance, although many of these were due to laboratory error or did not have outcome information, and only seven cases were subsequently confirmed as androgen insensitivity syndrome.…”

“…Few examples of CAIS detection in utero or in early infancy exist in the literature. Some cases of early CAIS identification were diagnosed early using cfDNA but specific indications were present to undergo this test, including a family history of CAIS 2 or as an abnormal first trimester combined screening follow‐up test 3,4 . One study using cfDNA and mid‐trimester ultrasound found that seven pregnancies of 12 919 women (0.05%) resulted in genotype–phenotype sex discordance 5 .…”