Discussion
The incidence of complete androgen insensitivity syndrome (CAIS) is 1 per 40,000–60,000 live births. It is diagnosed during the period of puberty due to primary amenorrhea, most frequently in girls with normally developing breasts, with sparse pubic and axillary hair [1–4]. Phenotypically, this is a woman; however, the vagina ends blindly and is shallow, and the uterus is absent [5–7]. The syndrome, first described in 1953 by Morris, was initially named ‘feminising testes syndrome’; subsequently this term was rejected as both offensive and incorrect. Testes in women with complete androgen insensitivity syndrome show a great deal of similarity to those observed in cryptorchidism, which suggests that anomalies in the testes are related with the abnormal position of the testes, rather than resistance to androgens. The testes may often be positioned within the inguinal canal, which may result in the formation of inguinal hernia. This has lead to the conclusion that infants of female gender with bilateral inguinal hernias should be subjected to examinations for CAIS or the syndrome associated with the presence of the genotype XY [5–7]. Due to the fact that there is a low risk (3–5%) of gonadal carcinogenesis (the most frequent tumour is seminoma) up to the age of 25 [5, 8], the saving of the testes and their removal not before the period of puberty allows the natural development of the breasts, without the necessity for exogenous administration of oestrogens [5]. This is due to the transformation of androgens into oestrogens, and also allows the patient to make a conscious decision concerning the date and type of surgical procedure. Women with CAIS possess a feminine gender identity, and the majority of them are heterosexual. They have the potential to obtain normal sexual satisfaction. Nevertheless, in standardised questionnaires for the assessment of sexual satisfaction this was shown to be insufficient, mainly because of psychological maladjustment and length of the vagina (too shallow), which may be treated by vaginal dilatation. When this is ineffective, prolongation of the vagina may be obtained using a laparoscopic method [3, 5–7]. The majority of reports concern women during the period of puberty or later, when the major cause of reporting to a physician is primary absence of menstruation [1, 5, 9–12]. The occurrence of inguinal hernias, especially those that are bilateral, in infants of female gender and subsequently in girls, should draw the attention of the paediatric surgeon to the possibility of the occurrence of CAIS syndrome and its early diagnosis [2, 3, 13, 14]. This is especially important in the case of inguinal hernia repair by laparoscopic technique. This technique allows direct observation of the gonads and possibly the collection of specimens from these gonads for histopathology tests [13–15]. It should be emphasised that in the case of performing the procedure by the conventional method, CAIS might not have been suspected because a unilateral inguinal hernia was dealt with, as confirmed by the presented study. Paediatric surgeons do not suspect CAIS syndrome in each case of bilateral hernias. Measuring the length of the vagina has even been proposed in order to make an early diagnosis of CAIS [2], in this way replacing a relatively complicated and costly imaging diagnostics when there is a suspicion of disorders in sexual differentiation. However, it is noteworthy that girls with CAIS usually do not have any external symptoms of the presence of male gonads. Although microtia was described in a patient with CAIS, these reports are casuistic [16]. At present, when an early diagnosis of CAIS is made, it is proposed that removal of the gonads is delayed until the time of normal development of the breasts and feminine phenotype [12]. Carcinomas related with undescended male gonads occur at an older age. These are primarily seminoma, dysgerminoma, or gonadoblastoma [6–8, 11]. Patients should undergo regular check-ups, as practised in patients with cryptorchidism. Early removal of the gonads results in the necessity for supplementation of oestrogens already in the early period of puberty in order to shape the feminine phenotype [8, 17].
Conclusions
The presented case of a girl with inguinal hernias (of which only one was observed by the parents, and the other was clinically silent), who had undergone PIRS procedure, allowed early suspicion of the occurrence of CAIS syndrome, as subsequently confirmed by additional tests. This enables further observation of the patient and the removal of the gonads by laparoscopic procedure, not before the normal shaping and development of the breasts.
Conflict of interest
The author declares no conflict of interest.
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Address for correspondence:
Przemysław Wolak
Department of Anatomy
Institute of Nursing and Obstetrics
Faculty of Medicine and Health Sciences
Jan Kochanowski University
al. IX Wieków Kielc 19, 25-317 Kielce, Poland
Phone: +48 501 525 549
E-mail: przemyslaw.wolak@ujk.edu.pl
