A case of complete androgen insensitivity syndrome combined with bilateral inguinal hernia

Excerpt

Complete androgen insensitivity syndrome (CAIS) is a truly rare X-recessive disorder with an incidence of 1/100,000 to 1/20,000 in the population [1‐5], which is caused by a mutation in the androgen receptor (AR) gene on chromosome Xq11-12 [5‐8], resulting in a complete loss of AR function. The most typical clinical presentation of these patients is the presence of exclusively female sexual characteristics with a 46, XY chromosome karyotype. Previous studies indicated that inguinal hernia was prevalent in over 50% of patients diagnosed with CAIS, predominantly manifesting as bilateral [9]. It is broadly accepted that inguinal hernia ranks among the most frequently encountered conditions in surgical practice [10‐13]. Therefore, even though CAIS is a rare disease, we may still encounter such patients during the clinical management of hernia. Due to the rarity of CAIS, misdiagnosis or underdiagnosis often occurs because of the lack of clinical experience in treating these patients [14]. Here is a case report of a patient with CAIS combined with bilateral inguinal hernia, in whom we came across some uncertainties and challenges in the process of diagnosis and treatment. A patient came to our hospital with a 30-year history of finding a reversible bulk in the right inguinal region. She was a 31-year-old woman with a previously investigated chromosomal karyotype of 46, XY in peripheral blood. It should be noted that she had no history of menses and had previously received vaginal lengthening surgery in another hospital. There was nothing special about the rest of her medical history. Physical examination showed a height of 177 cm, a body weight of 70 kg, normal development of limbs, obvious female secondary sexual characteristics, good breast development, a light areola color, and a female vulva. A bulge measuring 2 cm by 1 cm was observed in the patient's right inguinal region while standing. This bulge spontaneously reduced when the patient laid down. Upon manually reducing the bulge, the examiner placed a finger against the patient's external inguinal ring and asked the patient to cough. This elicited a slight sensation of impact. In addition, when pressure was applied to the internal ring at its surface projection, the bulge was not visible while the patient stood or coughed. However, it reappeared when the pressure was released. Laboratory tests revealed the following hormone levels: estradiol at 11.86 pg/mL, luteinizing hormone (LH) at 15.32 mIU/mL, follicle-stimulating hormone (FSH) at 70.41 mIU/mL, testosterone at 0.41 ng/mL, prolactin at 8.60 ng/mL, and progesterone at 0.46 ng/mL. An ultrasound examination provided these findings: (1) the pelvic region showed no discernible uterine or ovarian structures. (2) A heterogeneous echogenic region measuring 5.3 cm × 2.2 cm × 1.0 cm was observed in the right inguinal area, displaying omental echoes. Conversely, the left inguinal area exhibited a 2.7 cm × 1.2 cm × 0.6 cm heterogeneous echogenic area with some reticular echoes. (3) No testicular-like structures were apparent from the lower poles of both kidneys extending to the inguinal regions. MRI imaging (Fig. 1A) revealed the absence of the uterus and bilateral adnexal regions. The vagina was present, measuring approximately 67.4 mm in length, and exhibited a caudate-like alteration distally. The female uterus was distinctly visible, with a length of about 29.7 mm. Adjacent to the right iliac vessels, abnormal signal patterns were detected. Bilateral inguinal hernias were also observed, with nodular abnormal signals present at the external orifice of the left inguinal canal. These findings lead to a clear diagnosis of bilateral inguinal hernia. In addition, considering the patient's chromosomal karyotype, hormone levels, and the morphology of the reproductive system, although the histological type of the patient’s gonads remains undetermined, there is a suspicion that the patient may be suffering from CAIS. Following an in-depth discussion with the expert team and a multidisciplinary consultation, we presented a detailed explanation of the condition and surgical procedure to the patient, outlining both the potential benefits and risks. The patient, fully informed, expressed a specific request to remove any cryptorchid-like tissue that might be found during surgery and accordingly signed the informed consent. Subsequently, the patient received laparoscopic surgery at our department, and intraoperative exploration clarified bilateral inguinal hernias. We identified bilateral vas deferens-like structures accompanied by blood vessels running adjacent to the pelvic wall and entering the hernia rings. Notably, at the internal orifice of the right inguinal canal along the path of the right vas deferens-like structure (Fig. 1B), we discovered a mass measuring approximately 3 cm by 2 cm (Fig. 1C), suspected to be gonadal tissue. In response to this finding, we sought the expertise of urology, obstetrics, and gynecology specialists for a joint consultation. The consensus was that the tissue resembled cryptorchid tissue more than an ovary or ovotestis. We decided to excise the tissue for pathological examination based on this assessment. Concurrently, the patient underwent a transabdominal preperitoneal repair (TAPP) procedure for the bilateral inguinal hernias, using two partially absorbable patches. The patient experienced a smooth postoperative recovery and was discharged the day after the surgery. Guidance was given to hold off on deciding about treatment for the left mass until the pathology results were returned. The pathological examination revealed atrophied testicular tissue, vas deferens, and epididymis, with an absence of significant spermatogenesis and tumor cells. Furthermore, immunohistochemical results showed a distinctive pattern: α-inhibin was positive, calretinin (CR) was positive, steroidogenic factor-1 (SF-1) exhibited weak positivity, and D2-40, CD117, OCT-4, PLAP, and SALL4 were all negative. These findings are consistent with the pathological alterations typically associated with cryptorchidism (Fig. 1D). We differentiated this case from Swyer syndrome, 5-α reductase deficiency, gonadotropin receptor deficiency, mixed gonadal dysgenesis (MSD), and partial androgen insensitivity syndrome (PAIS) by assessing her clinical manifestations, hormone levels, imaging findings, observations during the operation, and postoperative pathological and immunohistochemical findings. In addition, we have conducted an extensive review of pertinent literature to assist in our diagnosis and differential diagnosis [5, 7, 15‐23]. Thus, we finally gave her a diagnosis of CAIS combined with bilateral inguinal hernia. The informed consent form was obtained. We appreciate the support and collaboration provided by the patient. We would like to share this case in the hope that it will assist clinicians in making the correct diagnosis and giving the proper treatment when encountering similar patients.

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