Perineal discomfort caused by the sitting position as a rare manifestation of ectopic testicle: About two cases

Abstract

Background and importance

Perineal ectopic testis (PET) is a rare congenital anomaly; the diagnosis is typically made by conducting a physical examination of the ectopic areas and noting an empty scrotum on the corresponding side. We report two pediatric cases of PET in whom this condition was diagnosed by a discomfort induced by the sitting position.

Cases presentation

Two cases of PET were operated on in our pediatric surgery department over the past three years. Patients were referred for perineal discomfort in the sitting position. Children had difficulty staying seated at home or school, this was described by parents as an abnormal fussiness after sitting. The age at diagnosis was five and three years. The diagnosis of perineal testicular ectopia was made through physical examination. Orchidopexies to the corresponding scrotum were performed in both cases via an inguinal approach. No postoperative complication was noted with a follow-up of 24 months.

Clinical discussion

PET is typically diagnosed through clinical examination, characterized by an empty scrotum and a palpable perineal mass. The exact aetiology is unclear, but it involves abnormalities in testicular descent mechanisms, particularly the gubernaculum. PET can cause perineal discomfort when sitting, a symptom observed in the two pediatric cases presented. Early surgical intervention via orchidopexy is crucial to prevent complications. Both reported cases were successfully treated with no postoperative complications and resolution of discomfort. Prompt diagnosis and treatment are essential for preserving testicular function.

Conclusion

Perineal discomfort on sitting was the defining diagnostic element in our cases. In practice, this symptom should be a prompt for a thorough perineal examination in children with an empty scrotum. However, the patient's age and ability to express himself determine the significance of the symptom.

Highlights

• •Perineal ectopic testis (PET) is a rare congenital anomaly, often diagnosed by the presence of an empty scrotum and a palpable perineal mass, with unique symptoms such as perineal discomfort when sitting.
• •Prompt clinical examination and early surgical intervention via orchidopexy are essential to prevent complications like testicular atrophy, malignancy, torsion, and infertility, ensuring better long-term outcomes.
• •In the reported cases, both pediatric patients underwent successful orchidopexy with no postoperative complications and complete resolution of perineal discomfort, highlighting the effectiveness of timely surgical management for PET.

1. Background and importance

Perineal ectopic testis (PET) is a rare condition first described by John Hunter in 1786 and sporadically reported since [1,2]. More than 175 cases of PET have been documented in the literature, with approximately 80 % of these cases being unilateral [3]. It accounts for less than 1 % of cases in which the testis is located in the perineal region and is protected by a layer of perineal fat [1,4]. The consequences of PET resemble those of undescended testicles, as in both instances, the testis is not situated in the scrotum, where it can benefit from the specialized, lower temperature. This raises the risk of cancer, fertility problems, and concerns related to appearance and social aspects. Diagnosis of this condition is made clinically; further radiology investigations are not necessary in children. The most common reason for consultation in PET is an empty scrotum. Perineal discomfort while sitting has been described in adults but not, as far as we know, in children. We reported these two cases according to PROCESS 2023 guidelines [5].

2. Case one presentation

A five-year-old previously healthy boy presented for perineal discomfort caused in the stead position, which has been described by the child as a tingling sensation. Perineal examination revealed an empty left scrotum and a firm mobile mass located halfway between the anus and the scrotum corresponding to a normal testis (Fig. 1). The source of the discomfort when sitting seems to be the stretching of the gubernaculum and the compression of the testis. No further imaging was indicated, and the patient was operated on via an inguinal approach. The procedure for dissecting the perineal testis was similar to that of an inguinal dissection. The external spermatic fascia and the cremasteric muscle were shown to extend to the perineum. A left Gubernaculum testis attached to the perineum was found (Fig. 2). A careful dissection allowed us to release the spermatic cord, which was of an adequate length. No patent processus vaginalis was found. The testicle had a normal aspect and measured 20 ∗ 1.5 ∗ 10 mm. Orchidopexy to the left scrotum was performed. The follow-up period was free of any complications, and a complete resolution of the perineal discomfort was noted.

Fig. 1.

The physical examination shows an empty left scrotum and a perineal mass (the asterisk), the source of discomfort, corresponding to an ectopic testis.

Fig. 2.

Per-operative aspect showing normal left testis with Gubernaculum attached to the perineum.

3. Case two presentation

A three-year-old boy presented to our department for an empty right scrotum. The parents mentioned that the right testis was never seen in the scrotum since birth and they describe an unusual restlessness and difficulty in maintaining a sitting position. On physical examination the left testis was normally positioned and had a normal size, the right testis was not palpable in the scrotum nor the inguinal area. On the right side of the perineum, we could feel an oval-shaped painless mobile mass, resembling the structure of a normal testis (Fig. 3). The diagnosis of PET was made and the patient was scheduled for open orchidopexy by inguinal approach. Per-operatively (Fig. 4), the spermatic cord was identified in the inguinal region and traced downward, ultimately connecting to the perineal area. The testicle seemed to be reduced in size with a patent processus vaginalis. The perineal testis along with its cord was released. The testis was then repositioned in the right scrotum using the technic of the dartos pouch. The postoperative course was uneventful with a seven-month follow-up.

Fig. 3.

The perineal right mass corresponding to the ectopic testis.

Fig. 4.

(a) The perineal insertion of the Gubernaculum testis: we can note the traction on the perineal skin where the testicle was first touched. (b) The ectopic testicle reduced in size after being released.

4. Discussion

The process of testicular descent is regulated by a variety of factors, including mechanical and hormonal ones. The Gubernaculum is the most important mechanical element that guides the testis on its descent to the scrotum [2]. The exact aetiology of ectopic testis remains unknown. Many hypotheses have been suggested, including genitofemoral nerve abnormalities, obstructions in the scrotal entry, and overdevelopment and extension of a single gubernaculum segment [2]. Because of these disorders, the testicle is in an abnormal position. It may be in the superficial inguinal space, the suprapubic or femoral area, the contralateral scrotum, and the perineal region which is considered the second most common site [[5], [6], [7], [8]]. The diagnosis of PET is established clinically, based on an empty scrotum and the existence of a perineal swelling. Perineal discomfort caused by this abnormal position is not common; this symptom may be expressed as discomfort in the perineum when in a sitting position. However, it should be expected, as it can be described as an abnormal fussiness in infants and young children. The use of complementary investigations is not required except in complications such as torsion and trauma. In such cases Doppler ultrasound is the standard imaging, however, MRI has been employed in cases of uncertain diagnosis [9]. The prenatal diagnosis of PET has been reported in the literature [10,11]. However, we would like to emphasize the role of routine examination of newborns, which allows prompt management. PET is treated surgically. Surgery is indicated as soon as the diagnosis is made, even before the age of six months, since descent is not expected and the spermatic cord of sufficient length allows for easy repositioning [8,9]. Furthermore postponed diagnosis and treatment expose the testicle to atrophy, injury, malignancy, torsion, and infertility in situations of bilateral ectopia [12]. It has been demonstrated that histology features of ectopic testicles are comparable to those of undescended ones. There was also no significant difference in the frequency of associated vaginal process abnormalities [7]. To enable concurrent and safe treatment of an inguinal hernia, if one is present, open orchidopexy is carried out through an inguinal incision [8]. This approach is the most recommended however, scrotal incisions have been proposed as an alternative [13]. This approach has been defended for its aesthetic benefits. It also allowed the surgeon to release and close the vaginal process without the need for an inguinal opening [12]. Perineal testicular surgery does not have any special complications. However, postoperative monitoring is required for a long period.

5. Conclusion

While uncommon, testicular ectopia should be considered when evaluating a child presenting with perineal discomfort in the sitting position. It's always crucial to perform a thorough clinical examination of the perineal area where the ectopic gonad may be situated. Compared to classic testicular ectopy, surgery can be done as early as six months of age to preserve testicular function and avoid possible complications.

Consent

Written informed consent was obtained from the patient's parents/legal guardian for publication and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Ethical approval

Ethical approval for this study was obtained from the Institutional Review on 1st January 2024. Since this was a retrospective study, patient consent for inclusion was waived. However, all patient data were anonymised and handled confidentially following the Declaration of Helsinki.

Funding

This research did not receive specific grants from the public, commercial or not-for-profit sectors.

Author contribution

All authors participated in treating the patients, writing, and approving the manuscript.

Guarantor

Mohamed Ali Chaouch.

Research registration number

N/A.

Conflict of interest statement

No conflict of interest to disclose.