2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Characterization of Clinically Diagnosed Androgen Insensitivity Syndrome (AIS) and its Mimics

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The study focuses on the characterization of Androgen Insensitivity Syndrome (AIS) and its mimics, as well as the potential misdiagnosis rate of AIS. AIS is a Differences of Sex Development (DSD) condition that ranges from complete to partial and is commonly seen in individuals with a 46 XY karyotype. The study aims to determine the misdiagnosis rate of AIS at an academic medical center and identify factors that may contribute to inaccurate clinical diagnoses. <br /><br />The researchers conducted a retrospective chart review of 32 patients with clinical diagnoses of AIS using ICD-9/ICD-10 codes. They found that some individuals who were clinically diagnosed with AIS actually had a different DSD upon genetic testing. In particular, they highlight cases of misdiagnosed AIS that were actually androgen biosynthesis defects, such as 5-alpha reductase deficiency, 17-alpha hydroxylase/17,20-lyase deficiency, and 17-beta hydroxysteroid dehydrogenase 3 deficiency.<br /><br />The study emphasizes the importance of genetic testing in accurately diagnosing DSDs and providing patients with personalized genetic counseling and medical management. It also highlights the need for attention to psychosocial implications and the impact of misdiagnosis on patients.<br /><br />The limitations of the study include a small sample size from a single medical institution, which may not fully represent the misdiagnosis rate in practice. The study was funded by the Georgia Association of Genetic Counselors.<br /><br />In conclusion, the study sheds light on the phenotypic overlap between AIS and its mimics, highlighting the need for accurate diagnosis through genetic testing. This can guide appropriate medical and psychosocial management and assess the recurrence risk. The study aims to educate healthcare providers about the importance of genetics testing for patients with DSDs and explore patient perspectives and psychosocial impacts of misdiagnosis.

Asset Subtitle

Presenting Author - Brynn Shrom, BS; Co-Author - Hong H. Li, MD, PhD; Co-Author - Eileen Barr, MS, CGC; Co-Author - Lauren Lichten, MS, CGC;

Meta Tag

Clinical Cytogenetics

Congenital Anomaly

Counseling

Cytogenetics

Differentiation

Dysmorphology

Etiology

Genetic Diversity

Genetic Testing

Genitourinary malformations

Genotype-Phenotype Correlations

Molecular Cytogenetics

Phenotype

Phenotypic delineation of disorders

Psychosocial Counseling Issues

Psychosocial Issues

Sequencing

X-Inactivation/X-Linked Disease

Co-Author Hong H. Li, MD, PhD

Co-Author Eileen Barr, MS, CGC

Co-Author Lauren Lichten, MS, CGC

Presenting Author Brynn Shrom, BS

Keywords

Androgen Insensitivity Syndrome

AIS

Differences of Sex Development

DSD

misdiagnosis rate

genetic testing

androgen biosynthesis defects

genetic counseling

medical management

psychosocial implications