Introduction

Turner syndrome (TS) is a disease that affects women. The genetic background of the phenotype is highly variable, and karyotype analysis can improve disease understanding¹. Previous reports indicate that the most common clinical manifestations are short stature, gonadal dysfunction, renal malformations, and certain phenotypic traits in external sexual organs². When the syndrome presents as a mosaic karyotype, clinical presentations are usually uncommon³. Here, we describe the case of a female patient with TS mosaicism (45X, 46XX) with a patulous urethra leading to total urinary incontinence.

Congenital short patulous urethra in women is a rare condition and has been previously reported in association with epispadias. Congenital anomalies affecting the distal segment of the urogenital sinus (which gives rise to the female urethra and vagina) can result in abnormal urethral development ranging from an absent urethra to a markedly deficient urethra, leading to total urinary incontinence⁴.

Clinical case

A 34-year-old female patient presented to the clinic with continuous urinary leakage that worsened with effort. As relevant history, she requires diaper changes 5 times a day, accompanied by a lack of urinary urge. The patient has two full-term parturient, which is not common in TS in the literature; however, due to mosaicism, it is highly probable that her uterus is healthy and she was able to conceive two children. Throughout her illness, she denied episodes of hematuria or dysuria. The patient was initially evaluated through history taking and physical examination, revealing that the condition began in childhood. Physical examination showed urogenital malformations, such as clitoral agenesis, hypoplasia of the labia minora, and abnormalities in the size of the urethra (Fig. 1).

Figure 1 A: pre-operative findings show malformation of the labia majora, unfused clitoris, and hypoplasia of the labia minora. B: post-operative findings at 3-month follow-up show fused labia, intact clitoris, with proper healing of the fascia lata sling forming the mons pubis. 

A urinary tract evaluation was performed through urethrocystography, revealing separation of both pubic branches, a bladder volume of approximately 270 mL prevoiding with onset of incontinence, and spontaneous urine leakage. The micturition phase could not be evaluated due to involuntary urine leakage at 270 mL, and complete emptying was seen in the post-micturition phase (Fig. 2).

Figure 2 Urethrocystography. A: bladder with an approximate volume of 270 mL pre-micturition, well-defined edges, and spontaneous urine output was confirmed. B: the voiding phase was not assessable due to the involuntary leakage of urine, although complete emptying was evident in the post-micturition phase. 

In the protocol in patient’s TS is necessary a second study to rule out kidney malformations, a computed tomography scan with contrast of the chest and pelvis was performed, showing a decrease in the size of the urethra, fluid exiting through the vagina with no evidence of bladder wall defect, and a normal path of the ureters to the bladder and subsequently to the vagina (Fig. 3).

Figure 3 CT urography in coronal A the entire bladder A: is observed in the elimination phase with the proximal urethra above the uterus B: urography in sagital we observe the bladder (A) above this the uterus (B) in the usual way, on the left side of the image we observe the vagina (C) in which there is passage of contrast medium from the urethra in dorsal decubitus position showing the deficiency of the urethra to retain urine. 

In collaboration with the genetics department, and due to the abnormal findings, a karyotype analysis was performed, revealing mosaic TS (45X, 46XX) (Fig. 4).

Figure 4 Karyotype results: mosaic with 3 cell lines of monosomy of the affected chromosome (45X), and a chromosome according to normalcy (46XX) in peripheral blood samples. 

The patient underwent surgery by the urology service. The urethra was reconstructed and the urethral sphincter was increased using autologous fascia lata as a subtrigonal sling. During this process, dense fibrous scar tissue between the urethra and vagina was dissected. After mobilizing the remaining urethra, a flap of the vaginal wall was used to lengthen the urethra and reconstruct the external urethral meatus. Finally, a subtrigonal sling was placed. Synthetic slings are the most common primary surgical treatment for incontinence. Placing a subtrigonal sling is an effective surgical intervention for treating stress urinary incontinence in women. This procedure is performed through two incisions, one vaginal and one abdominal. In the vagina, an opening is created and the tissue is dissected to access the trigonal space formed by the urethra and both ureters, through which a sling is passed that adheres to the adjacent tissue. Following this, reconstruction of the clitoris, labia, and mons pubis was performed. The technique used for the mons pubis was plication with 1 Prolene of the aponeurosis of the rectus abdomen, increasing the subcutaneous cellular tissue in the mons pubis. For clitoris reconstruction, the internal face of the right and left half clitoris was sectioned, fusing with monocryl. Finally, for labial reconstruction, a minor labiaplasty was performed. Subsequently, the patient showed a drastic improvement and was completely dry at the 3-month follow-up (Fig. 5).

Figure 5 Urethra reconstruction with increased urethral sphincter using autologous polypropylene sling. Dense fibrous scar tissue used as a flap of the vaginal wall to lengthen the urethra and reconstruct the external urethral meatus. 

Discussion

TS can be classified according to the form of X chromosome deletion as follows: 50% of X chromosome deletions are in the classical form of TS (45,X), the mosaic form (45,X/46,XX) represents 15-25%, and the remaining cases of TS have structural abnormalities in the X chromosome⁵. The mosaic form of TS may overlook many of the known features of TS, leading to a delayed diagnosis similar to our patient’s.

The most common urological clinical manifestations associated with TS include horseshoe kidney, with a frequency of 7-14%. It is also known that in TS, there can be a duplicated collecting system and unilateral renal agenesis. These anomalies are collectively referred to as congenital anomalies of the kidney and urinary tract (CAKUT), which are one of the leading causes of pediatric chronic kidney disease⁶. Although renal function in TS is considered normal, it has not been thoroughly studied. Studies reported in the literature indicate that the frequency of CAKUT in mosaic karyotype is 25.0%⁶.

Considering what is reported in the literature and as per protocol, a contrast-enhanced computed tomography was performed to rule out possible malformations associated with TS, the findings were observed the entire bladder is observed in the elimination phase with the proximal urethra above the uterus. The bladder above this the uterus in the usual way, we observe the vagina in which there is passage of contrast medium from the urethra in dorsal decubitus position showing the deficiency of the urethra to retain urine.

The spatiotemporal nature of molecular alterations defines the renal and urinary tract defects of individuals. Early embryonic development can lead to renal parenchymal malformations, while later interferences underlie ureteral anomalies⁷.

The female urethral development occurs from the pelvic and phallic part of the urogenital sinus. The abnormal division of the urogenital sinus with possible malrotation that occurs during development is the probable hypothesis in reported cases of short and wide urethras. The exact embryological defects are unknown⁸.

The reported case shares similarities with the phenotype of Turner congenital malformations, such as clitoral agenesis and hypoplasia of the labia minora. However, there is no necessary information to directly link a patulous urethra to the syndrome. Congenital short patulous urethra in women is a rare condition and has been previously reported in association with epispadias, hypospadias, and urogenital sinus anomalies. Congenital anomalies affecting the distal segment of the urogenital sinus (which give rise to the female urethra and vagina) can lead to abnormal urethral development ranging from an absent urethra to a markedly deficient urethra⁴.

Youthful women with epispadias will have a bifid clitoris, a patulous urethral meatus, a vaginal opening located anteriorly, and a malformed or absent mons pubis, poorly developed lips, and occasional symphyseal separation⁸.

Epispadias is a rare and sporadic congenital defect with a worldwide estimated incidence of 2.4/100,000 live births⁹. The condition is more common in men than in women, with an estimated ratio of 1.4:1, but the incidence in girls is likely to be greatly underestimated due to the difficulty of diagnosis¹⁰.

The retrosymphyseal form can present with complete incontinence and an extremely small bladder capacity. The most severe forms may demonstrate a urethral cleft affecting the bladder neck with prolapse of the bladder mucosa. Genetic, developmental, and environmental factors are believed to play a role in the etiology of epispadias, although the underlying cause is unknown¹¹. In women, urinary incontinence is a typical finding in the clinical picture¹².

Urinary incontinence can be simply defined as loss of bladder control or involuntary urination.

Urinary stress incontinence (USI) is the involuntary loss of urine associated with physical effort that increases pressure in the abdomen, such as sneezing, coughing, laughing, or simply walking. It occurs when the intravesical pressure exceeds the urethral opening pressure, as a result of a failure in the mechanisms of urethral resistance, due to two non-exclusive causes: urethral hypermobility, secondary to the weakness of the structures that make up the pelvic floor and support the urethra, and intrinsic sphincter deficiency, caused by a defect in the urethral sphincter closure system, resulting in inadequate coaptation of its walls. Synthetic slings are the most common primary surgical treatment for USI. A recent systematic review reported cure rates of 65-98%¹³.

The results demonstrate that the subtrigonal sling technique with abdominal fascia is useful for resolving complex USI, and its effectiveness is comparable to that obtained with the use of suburethral tapes, but with a lower rate of obstructive complications, including urinary retention¹⁴. This technique was chosen based on the patient’s condition, as she had a short urethra that did not have the necessary diameter for a sling. In addition, urethral elongation was performed, so if a synthetic material were to be placed in the reconstructed area, there could be a risk of fistula formation; hence, an independent working area from the urethra was selected.

Female intimate surgery has developed significantly in recent years.

The main objective of genital esthetic surgery in women, as well as in men, is to improve the subjective appearance of the external genital organs and potentially provide psychological or functional improvement in sexual satisfaction¹⁵.

Conclusion

This case highlights the complexity and challenges in genitourinary reconstruction of a patient with TS mosaicism (45X, 46XX) and congenital anomalies in short urethra and urinary incontinence. The treatment of short urethra and severe urinary incontinence due to a deteriorated embryological defect, as part of a developmental anomaly, justifies multiple surgical reconstructions. In this case, socially acceptable continent periods were achieved through advanced surgical interventions and a multidisciplinary approach. However, more information and research are needed to reach more accurate conclusions about the optimal management and long-term implications of these conditions.