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[Complete androgen insensitivity syndrome: diagnosis and multidisciplinary management]
Ketzarly Gitzelim Gallardo-Durán1, Beatriz Elizabeth De la Fuente-Cortez2, Teresa Carolina Villarreal-Benavides1
1Instituto Mexicano del Seguro Social, Centro de Investigación Biomédica del Noreste, Departamento de Citogenética Molecular. Monterrey, Nuevo León, México.
Background:
Complete androgen insensitivity syndrome (CAIS) is a sexual differentiation disorder, caused by a defect in the androgen receptor gene (AR; OMIM# 313700). It is characterized by the resistance of target tissues to the action of testosterone, which prevents normal male genital development. The objective is to describe a family case of CAIS and highlight the importance of multidisciplinary medical management and early diagnosis of this syndrome.
Clinical Case:
We present two cases of SICA in a Mexican family. Case 1: 18-year-old female patient with primary amenorrhea and a history of surgery at an early age, without performing gonadectomy. Case 2: 11-year-old female patient who, due to the history of her sister, underwent surgery at that age. In both patients, absence of uterus and ovaries, hypoplastic vagina and male gonads is reported. The 46,XY karyotype was detected with the GTG and CBG band technique and fluorescent in situ hybridization with the presence of the Y chromosome in 100% of the cells analyzed. Although both patients were identified with their assigned sex, they were referred to the institution's psychiatric clinic.
Conclusions:
The importance of multidisciplinary management for the diagnosis of SICA at an early age is discussed, in order to make decisions regarding the treatment and management of patients, avoiding malignant transformation of the male gonads.
Insights
Complete androgen insensitivity syndrome (CAIS) is a genetic disorder affecting sexual development. Early diagnosis and multidisciplinary care are crucial for managing CAIS and preventing gonadal tumors.
Area of Science:
- Genetics
- Endocrinology
- Reproductive Biology
Background:
- Complete androgen insensitivity syndrome (CAIS) is a disorder of sexual differentiation.
- It stems from defects in the androgen receptor gene (AR), leading to testosterone resistance.
- This resistance hinders normal male genital development.
Observation:
- Two cases of CAIS in a Mexican family are presented.
- Patients exhibited primary amenorrhea, absence of uterus and ovaries, hypoplastic vaginas, and male gonads.
- Genetic analysis confirmed a 46,XY karyotype with Y chromosome presence.
Findings:
- The study details CAIS in a Mexican family with two affected sisters.
- Diagnostic findings included a 46,XY karyotype and specific physical characteristics.
- Both patients were assigned female at birth and referred for psychiatric evaluation.
Implications:
- Early diagnosis and multidisciplinary management are vital for CAIS patients.
- Timely intervention aids in treatment decisions and patient management.
- Proactive care can help prevent malignant transformation of male gonads.
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