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April 13, 2026Case Reports in GeneticsOpen Access

Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns

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Authors

LILauren M. IaconoPLPaul A. LevyTBTamar G. Baer

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Overview

Genetic findings reveal germline mosaicism in sisters with CAIS, implying improved counseling for familial implications.

Key Points

  • This research aims to explore the impact of germline mosaicism in genetic counseling for CAIS.
  • AR gene sequencing of two sisters and their mother
  • Analysis of clinical courses and inheritance patterns
  • Discussion of implications for prenatal and reproductive planning
  • Both sisters had identical hemizygous pathogenic variants in the AR gene.
  • Mother did not carry the identified pathogenic variants.
  • First reported case of germline mosaicism in CAIS, indicating low but existing recurrence risk.

Cite This Study

Iacono et al. (2026) studied this question.

synapsesocial.com/papers/69dc88d83afacbeac03ea912https://doi.org/10.1155/crig/1224893
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