Successful conservative management of isolated hemiscrotal agenesis: case report

Abstract

Hemiscrotal agenesis is an extremely rare congenital anomaly characterized by unilateral absence of scrotal skin with preserved midline raphe. Optimal management, particularly conservative approaches in isolated cases without cryptorchidism, remains poorly defined. We report a 5-year-old boy with normal 46,XY karyotype presenting for circumcision revision, who had isolated right hemiscrotal agenesis, penile torsion, and excess preputial skin. The right testis was palpable subcutaneously with adequate perineal space. After penile detorsion and circumcision revision, sufficient skin elasticity allowed comfortable testicular positioning without reconstruction. Pubertal follow-up showed excellent cosmetic and functional outcomes, highlighting the value of individualized conservative management in selected cases.

Highlights

• •One of the few reported cases of isolated hemiscrotal agenesis successfully managed conservatively.
• •Adequate tissue elasticity allowed testicular positioning without scrotal reconstruction.
• •Excellent cosmetic and functional outcome at pubertal follow-up, avoiding surgical complications.
• •Emphasizes individualized approach for rare congenital scrotal anomalies with normal contralateral side.
• •Normal karyotype and no associated malformations in this isolated case.

1. Introduction

Congenital scrotal anomalies are uncommon. Hemiscrotal Agenesis (HSA) is a rare congenital abnormality of scrotal development. It is characterised by the unilateral absence of scrotal skin, alongside an intact midline raphe.1, 2, 3 Literature on the subject is extremely limited, with only a small number of case reports being described.

In this report, we present a case of hemiscrotal agenesis in a 5-year-old boy managed conservatively with successful outcome. This manuscript was prepared following the CARE guidelines.

2. Case report

This case involves a five-year-old boy with no significant past medical history, who was admitted to our unit for a revision of a previous circumcision procedure. Physical examination revealed penile torsion and excess preputial skin. The urethral meatus was located apically. The right hemiscrotum appeared smooth, hypopigmented and devoid of rugae, whereas the left hemiscrotum appeared normal. The median scrotal raphe was present and in the correct position (Fig. 1). The right testicle was well positioned and palpable subcutaneously in the region where the scrotum would typically be located. The left testis was normally descended and positioned within the ipsilateral hemiscrotum. The remainder of the clinical examination revealed no further evident congenital anomalies. Chromosomal analysis yielded a normal 46, XY karyotype. No urinary tract abnormalities were identified on abdominal ultrasound. The patient underwent surgery, including penile detorsion and circumcision revision. Conservative management of the isolated right hemiscrotal agenesis entailed no scrotal reconstructive procedure or orchidopexy, as sufficient local tissue elasticity and adequate perineal space permitted comfortable, tension-free testicular positioning in a natural subcutaneous perineal location. At pubertal follow-up, the child maintains satisfactory cosmetic and functional outcomes, with no need for reconstructive surgery.

Fig. 1.

Absence of right hemiscrotum. Normal scrotal rugae on left, presence of midline raphe, and smooth skin without rugosity on right.

3. Discussion

Bilateral or unilateral scrotal agenesis is considered an extremely rare developmental anomaly of the scrotum.^2,4 Although the embryological development of the external genitalia is well established, the precise embryological pathogenesis of scrotal agenesis remains unknown. It is likely to be multifactorial and to involve localised androgen insensitivity and/or localised 5alpha-reductase deficiency and/or failure of the labioscrotal fold to form.^2,4,5 According to Janoff et al., failure of the labioscrotal folds to develop may be the cause of congenital scrotal agenesis.⁴ Histological and molecular studies conducted by Nishio et al. have demonstrated that the lack of scrotal rugae and pigmentation is likely due to the diminished expression of androgen receptors and steroid 5α-reductase type 2 (SRD5A2) in the affected scrotal tissue.^6,7

In their reported case of hemiscrotal agenesis, Corona-Rivera et al. considered a localized deficiency of 5α-reductase type 2 unlikely in their patient because his skin showed no response to topical testosterone treatment. Instead, they proposed a localised androgen insensitivity that was restricted to the labioscrotal folds.⁸ When evaluating a child with congenital scrotal agenesis, it is important to take a thorough medical history, paying particular attention to any complications during pregnancy, potential environmental exposures and any maternal medication or drug use.

Patients with congenital hemiscrotal agenesis present with smooth perineal skin, absence of rugosity on one side of the scrotum, and a preserved midline raphe.⁴ A physical examination should be carried out to establish whether the testes are present and to determine their location. Any associated congenital anomalies should also be diagnosed.⁴ Due to the very limited number of reported cases, the true incidence of these associated abnormalities remains poorly defined.⁴ Congenital scrotal agenesis has been associated with various anomalies, including facial malformations, growth retardation, cardiac malformations, ectopic anus, digit malformations, cryptorchidism and intersex conditions.³

In addition, scrotal agenesis is known to be associated with several syndromes, including cutis marmorata telangiectasia, Prader–Willi syndrome, PHACE syndrome, and popliteal pterygium syndrome.^5,8, 9, 10 Our patient has no associated malformations, including no cryptorchidism. To rule out a genetic abnormality or intersex condition, a karyotype and chromosomal analysis are necessary.⁴ Our patient has a normal 46, XY karyotype. Historically, management strategies for congenital scrotal agenesis have spanned a spectrum of interventions, ranging from reconstructive techniques involving tissue expanders and pedicled skin flaps to conservative observation and expectant management.¹¹ The most commonly cited technique for neoscrotal reconstruction was described by Wright in 1993 and Verga in 1996. In this approach, a prepuce flap is created and the Beck-Ombrédanne buttonhole technique is performed, whereby the glans and shaft of the penis are passed through a dartos window in the flap to transpose the prepuce to the ventral base of the penis and create a neoscrotum.^11,12 Wright performed immediate bilateral orchidopexy. While the long-term results were considered satisfactory, he documented minor postoperative complications, such as small areas of flap necrosis along the suture line and the onset of a superficial wound infection. In contrast, Verga adopted a delayed approach to orchidopexy. During the first stage of preputial flap mobilisation, he initially placed testicular prostheses to expand the preputial skin. Staged orchidopexies were then performed.^11,12 Benson et al. create a neo-scrotum using the foreskin. They avoid placing testicular prostheses beneath the freshly mobilized skin flap, as this may increase the risk of infection and/or compromise flap viability.¹¹ Their reported surgical technique creates sufficient space for bilateral orchidopexy approximately 12–14 weeks after surgery, rather than unilateral staged orchidopexy.¹¹ Like true scrotal skin, the preputial skin is androgen-sensitive, enabling significant expansion during puberty to accommodate testicular growth. It is naturally hairless and can be easily moved to the perineal region for neoscrotal reconstruction.⁴ If preputial skin is unavailable, tissue expanders placed beneath the perineal or penile shaft skin are an effective alternative.⁴ Building on this principle of tissue expansion, Spagnoli et al. described an innovative ellipsoid-shaped osmotic tissue expander for scrotal reconstruction.¹³ They propose that this approach is less invasive, involves a painless expansion process and requires less time overall for scrotal skin expansion.¹³ In the present context, conservative management denotes the deliberate avoidance of scrotal reconstruction. Unlike previously reported approaches involving preputial flaps, tissue expanders, or staged neoscrotal creation, our strategy relied solely on favorable local anatomy to achieve stable testicular positioning.

4. Conclusion

This case demonstrates that conservative management can be effective for selected cases of isolated hemiscrotal agenesis with a normal contralateral hemiscrotum, a non-cryptorchid testis and adequate local tissue elasticity. This approach avoids the complications associated with reconstructive surgery and emphasizes the importance of individualized treatment for this rare anomaly.

CRediT authorship contribution statement

Mariam Marzouki: Writing – review & editing, Writing – original draft, Conceptualization. Yosra Ben Ahmed: Writing – review & editing, Investigation, Data curation. Rim Ezzine: Writing – review & editing. Mariem Boukattaya: Writing – review & editing. Said Jlidi: Writing – review & editing, Validation, Supervision.

Informed consent

Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal upon request.

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Ethical approval

Ethical approval was not required for this case report as it involves a single patient and no experimental intervention.

Declaration of generative AI and AI-assisted technologies in the writing process

During the preparation of this work the authors used Grok/deeple in order to improve language and readability. After using this tool/service, the authors reviewed and edited the content as needed and took full responsibility for the content of the published article.

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This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Declaration of competing interests

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.