An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome

Abstract

Abstract Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder characterized by distinct clinical features. Key diagnostic indicators include well-developed breasts, absent axillary and pubic hair growth, and unambiguous female external genitalia. Additional clues can be obtained from the patient’s medical history, such as a previous inguinal hernia and the absence of Müllerian structures. Testosterone levels in CAIS patients typically exceed the reference range for females and fall within the normal to elevated range for males in the corresponding age group. The conversion of testosterone to estrogen plays a crucial role in promoting appropriate breast development. In CAIS, the Müllerian structures are typically absent due to the secretion of the anti-Müllerian hormone, leading to their regression and the presence of a blind vaginal pouch. This case report presents the diagnosis and management of a 15-year-old girl with CAIS who initially presented with primary amenorrhea. The patient underwent bilateral laparoscopic gonadectomy, followed by hormone replacement therapy involving estradiol administration. Plans for future treatment include vaginal dilatation to facilitate penetrative intercourse. The case emphasizes the importance of conducting a thorough physical examination in patients with primary amenorrhea, as it aids in early detection and facilitates appropriate management decisions. By recognizing the clinical clues and implementing a comprehensive management approach, healthcare professionals can effectively address the challenges associated with CAIS and provide appropriate care to affected individuals.