A case of bilateral oophorectomy in a 40-day-old female due to a misdiagnosis of complete androgen insensitivity syndrome.

INTRODUCTION AND

IMPORTANCE

Bilateral oophorectomy in females is rarely performed in the pediatric population due to its serious physical and mental long-term consequences on both the patients and their parents, which make it very complicated to manage.

CASE PRESENTATION: A 13-year-old female was referred to our pediatric clinic for evaluation of short stature and the absence of secondary sexual characteristics. As part of her past medical history, she underwent a bilateral oophorectomy that was performed along with a bilateral hernia repair at the age of 40 days due to misdiagnosis as complete androgen insensitivity syndrome (CAIS). The patient was initially started on transdermal hormonal replacement therapy and then replaced by oral treatment. A follow-up was planned every 6 months with a good response to the treatment regarding the development of secondary sexual characteristics and the satisfactory final height.

CLINICAL DISCUSSION: The girl underwent bilateral oophorectomy after a misdiagnosis of CAIS without proper diagnostic procedures, leading to medicolegal and ethical issues. Karyotyping is necessary for the diagnosis of CAIS. The adolescent received hormonal replacement therapy and had a follow-up of her growth and sexual development. The concept of oocyte donation was also discussed with the family.

CONCLUSION

Performing a karyotype and a complete hormonal workup is essential in any suspicion of CAIS in a phenotypically female infant to avoid making such an error. Performing the gonadectomy after sexual maturation is achieved in CAIS patients.