Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS)

Yalinkaya, Ahmet; Yayla, Murat; Erdemoğlu, Mahmut

doi:10.1002/pd.1747

Cited by 30 publications

(15 citation statements)

References 5 publications

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“…Generally, diagnosis of AIS is mostly made postnatally. Yalinkaya et al [27] described a similar case of fetus with androgen insensitivity syndrome presented with increased NT, and referred to amniocentesis at 16 week of gestation. The fetal karyotype was reported to be 46,XY, but on ultrasound fetus was seen as a female.…”

Section: Discussionmentioning

confidence: 94%

Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development – a retrospective analysis of 11-year data

Vlatković

Hafner

Mišković

et al. 2014

Journal of Perinatal Medicine

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Section: Discussionmentioning

confidence: 94%

Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development – a retrospective analysis of 11-year data

Vlatković

Hafner

Mišković

et al. 2014

Journal of Perinatal Medicine

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“…The proband's cousin sister (III 8) refused to come for investigations who had similar complaints. Discussion CAIS can be diagnosed as a result of mismatch between the prenatal sex prediction and the phenotype at birth [6].…”

Section: Casementioning

confidence: 99%

Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree

Kar

Sivamani

Shankar

et al. 2015

J Obstet Gynecol India

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Background Androgen insensitivity syndrome or testicular feminization syndrome is a rare X-linked recessive disorder, which encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). Methods In this paper, we report three cases of familial complete androgen insensitivity syndrome who presented with primary amenorrhea. Results Physical examination, ultrasonography studies, and biochemical, karyotype, and molecular cytogenetic analyses were conducted. Based on the findings, they were diagnosed and confirmed as having complete androgen insensitivity syndrome. Conclusion A multidisciplinary team is needed from disclosure of the diagnosis, gender assignment, surgical management, hormonal replacement therapy, to counseling and support.

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“…Genetic counseling is thus vital for families "at risk," whether it be to inform of a diagnosis of heterozygosity (for the mother and related women) or to encourage prenatal testing in future pregnancies [65][66][67][68][69]. This is an essential step because the birth of a child with XY DSD is always a dramatic event.…”

Section: Genetic Counselingmentioning

confidence: 99%