Prenatal Diagnosis of Androgen Insensitivity Syndrome

Bianca, Sebastiano; Cataliotti, Antonella; Bartoloni, Giovanni; Torrente, Isabella; Barrano, Barbara; Boemi, G; Presti, M. Lo; Indaco, Lara; Barone, Chiara; Ettore, Giuseppe

doi:10.1159/000251712

Cited by 22 publications

(15 citation statements)

References 24 publications

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“…Previous studies reported that more than half of individuals with CAIS presented with inguinal hernia and the incidence of CAIS in girls undergoing hernia repair was 1% [6,12]. Third, more recently fetuses or neonates are being diagnosed prenatally or immediately after birth due to a mismatch between fetal karyotype and external genitalia [13][14][15][16]. Individuals with ambiguous genitalia are recognized at birth, but individuals with complete sex reversal, the 46,XY karyotype and complete female external genitalia are usually overlooked at birth and receive diagnosis during adolescence based on primary amenorrhea or delayed puberty.…”

Section: Discussionmentioning

confidence: 99%

Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome

et al. 2018

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Abstract. With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance. The affected individuals are genetic males as shown by 46,XY but present complete female external genitalia and normal breast development at puberty albeit without menstruation. CAIS is commonly diagnosed in adolescence based on primary amenorrhea or in childhood based on inguinal hernia or testis-like masses in the inguinal region. In the present report, we describe a baby in whom CAIS was diagnosed immediately after birth based on a mismatch between the fetal karyotype detected by amniocentesis and the external genitalia phenotype at birth. We speculate that the increase in the number of prenatal genetic tests is contributing to the early detection of 46,XY disorders of sex development, especially those previously called complete sex reversal, which is supposedly diagnosed during childhood or adolescence. Hence, it is necessary to understand the disease-specific hormone profile at each developmental stage for accurate diagnosis.

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Section: Discussionmentioning

confidence: 99%

Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome

et al. 2018

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“…Recent diagnostics modalities offer detection of CAIS earlier than it was in the past: diagnostic is possible in utero for a female phenotype is visible at 16 th weeks' gestation by two-dimensional or four-dimensional sonography and can be compared with karyotype analysis [16,17].…”

Section: Discussionmentioning

confidence: 99%

Complete androgen insensitivity syndrome: Review of four cases

et al. 2012

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“…Prenatal diagnosis has been reported previously with discrepancy between fetal external genitalia noted at the time of ultrasound examination and the results of sex chromosome analysis following amniocentesis 1 . We present a case of prenatal diagnosis of AIS with discrepancy between fetal external genitalia seen during ultrasound examination and the results of cell-free fetal DNA (cffDNA) testing.…”

Section: Prenatal Diagnosis Of Androgen Insensitivity Syndrome Using mentioning

confidence: 98%