Phenotypic Variation of 46,XY with Androgen Insensitivity Syndrome in Indonesia

Abstract

Introduction: Androgen Insensitivity Syndrome (AIS) is a genetik disorder which has a resistance androgen receptor to the action of androgens resulting in impaired sexual development which results in phenotypic variations in 46,XY patients. Clinical examination of phenotypic variations by a medical professional will assist in establishing the diagnosis. The aims of this study is to identify phenotypic variations in AIS patients using the External Masculinization Score (EMS), quigley scale and height analysis.
Objectives: To Analyze phenotypic variations in 46,XY patients with Androgen Insensitivity Syndrome in Indonesia
Methods: A descriptive study was conducted on 30 patients from the Center for Biomedical Research (CEBIOR) Faculty of Medicine, Diponegoro University, Semarang from 2004-2019 who were identified as having AR gene mutations. Analysis of phenotypic variations was carried out based on EMS data, Quigley scale, and the patient's height at first admission.
Results: The average age of patients at first admission was 10.97 years, ranging from 1 month to 28 years. There were 6 CAIS patients and 24 PAIS patients. EMS for all patients was ≤9, whereas all CAIS patients had EMS of <3, and PAIS patients’ EMS varied from 3 to 9. The quigley scale for all CAIS patients was ≥6, while the scale of PAIS patients varied from 2-5. The height of most CAIS and PAIS patients had normal category or corresponded to the average height of normal people at their age. At the same time, the height of 1 female adult CAIS patient and 1 boy PAIS patient had tall category, it means their height had above average height compared to the normal people in their age.
Conclusions: Phenotypic variations in 46,XY patients with CAIS in Indonesia are relatively uniform while PAIS is more diverse. EMS, quigley scale, and height analysis are appropriate initial screenings in physical examination to direct supporting examinations towards diagnosis.