Endocrine Abstracts

JOINT3895

Objective: This study aims to evaluate the clinical presentation, hormonal profile, genetic characteristics, and management strategies in patients with Complete Androgen Insensitivity Syndrome (CAIS). We explore the necessity of gonadectomy by weighing its benefits—such as reducing malignancy risk—against its drawbacks, including loss of endogenous hormone production and psychological impact. Additionally, we analyze histopathological findings in patients who underwent gonadectomy.

Methods: A retrospective review was conducted on medical records of 16 patients diagnosed with CAIS between 2004 and 2024 at a tertiary care university hospital. All patients, aged between 3 days and 19 years, had a confirmed mutation in the androgen receptor (AR) gene.

Results: Most patients were diagnosed in the prepubertal period due to inguinal hernias. Familial cases were identified in four instances. Hormonal evaluations revealed elevated antimüllerian hormone (AMH) levels in prepubertal patients, reflecting the presence of testicular tissue, and markedly high testosterone levels during puberty. In three cases, gonadal biopsy was performed during inguinal hernia repair due to atypical gonadal appearance inconsistent with the female phenotype. Given the relatively low malignancy risk, 11 patients retained their gonads, while five underwent gonadectomy and subsequently received estrogen replacement therapy. Psychological assessments indicated better well-being in patients who retained their gonads compared to those who underwent early gonadectomy. All patients received regular ultrasound monitoring of the gonads.

Conclusions: Our findings highlight the importance of considering CAIS in females presenting with inguinal hernias or primary amenorrhea. Delaying gonadectomy until after puberty facilitates spontaneous sexual maturation, secondary female characteristic development, and natural growth progression while minimizing psychological distress associated with early surgery. Given the low malignancy risk and benefits of gonadal preservation, a personalized approach that includes delayed or even omitted gonadectomy may be warranted. Furthermore, postponing surgical decisions allows patients to actively participate in their medical management, emphasizing the significance of patient autonomy in healthcare decision-making.

Keywords: Complete androgen insensitivity syndrome, AR gene, primary amenorrhea, inguinal hernia, gonadectomy, gonadal preservation.