Testes Congenital and Childhood Anomalies

Testes Congenital and Childhood Anomalies

Eleni Papageorgiou1, Abraham Cherian1, and Pankaj Mishra2

1 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

2 Evelina London Children’s Hospital, Guy’s & St. Thomas’ Hospital, NHS Foundation Trust, King’s College Hospital, NHS Foundation Trust, London, UK


Congenital and acquired abnormalities and illnesses can have a lasting effect on children; therefore, an understanding of the conditions and their managements is the first step to ensuring patient safety and improved quality of life in adulthood. In this chapter, we will discuss the embryology, the congenital anomalies of the testis, the common conditions that present with painless scrotal swelling, and the acute scrotum.

Keywordsanomalies of the testis; inguinoscrotal masses; scrotum

36.1 Congenital Anomalies of the Testis

36.1.1 Embryology Review

Testicular embryology and descent depend on a complex interaction amongst endocrine, paracrine, growth, and mechanical factors.

Bipotential gonadal tissue located on the embryo’s genital ridge begins differentiation into a testis during weeks six and seven under the effects of the testis‐determining SRY gene. Sertoli cells begin to produce müllerian inhibitory substance (MIS) soon thereafter, causing regression of müllerian duct structures. By week nine, Leydig cells produce testosterone and stimulate the development of wolffian structures, including the epididymis and vas deferens. In the third trimester, the testis descends through the inguinal canal into the scrotum.

There are two stages of testicular decent, each under the influence of specific genes and hormones.

The first stage takes place between the 8th and 15th weeks. The MIS and insulin‐like factor 3 (Insl3) cause the development of the gubernaculum from the genitoinguinal ligament [1]. The contraction of the gubernaculum causes testicular descent. Foetal androgens also play a role by causing the regression of the cranial gonadal ligament.

The second stage of descent, the inguinoscrotal phase, takes place between the 25th and 35th gestational weeks. During this phase, the gubernaculum grows outside the inguinal region migrating to the scrotum. This stage is under androgen control and the calcitonin gene‐related peptide (CGRP) gene in the genitofemoral nerve and its neurotransmitters. At this time a fold of peritoneum (the processus vaginalis) adheres to the gubernaculum, which gives rise to a communication between the abdominal cavity and the scrotum, along which the testes descend [2].

Abnormalities in the first stage of descent are rare and result in an intra‐abdominal testis, whereas the failures of the second stage are more common, resulting in inguinal and high scrotal testis.

36.1.2 Undescended Testis (Cryptorchidism) Incidence

Undescended testis occurs in 0.7–5% of the term infant boys and in 30–45% of premature boys [2]. A spontaneous postnatal descent is observed in about 7% of the boys [3]. The majority of testes descend within the first 9–12 months. At age one year, the incidence of undescended testis is 1%, descent after one year is unlikely. Occurs bilaterally in 20–30% of cases [3, 4]. Classification Nonpalpable Testis (20%)

A testis may be impalpable (Figure 36.1) because it is absent (10–20%) (monorchidism in unilateral cases), atrophic or rudimentary (20–30%), or because it is not accessible to palpation (50%) (intra‐abdominal (40–50%), intra‐inguinal (30–40%), or pre‐scrotal (10–20%) testis) (Figure 36.2) [4]. Intra‐abdominal impalpable testis are more commonly found close to the internal inguinal ring (Figure 36.3), other locations include near the kidneys, anterior abdominal wall, or retrovesical space. A testis may be in the groin but may still be impalpable either due to body habitus or due to the lack of cooperation of the child during examination. About 20% of them become palpable when examined under an anaesthetic.

Image described by caption.

Figure 36.1 Right nonpalpable undescended testis.

Diagram illustrating the types of maldescent of testis on normal course of descent such as: abdominal, intracanalicular, emergent, and high scrotal.

Figure 36.2 Types of maldescent of testis on normal course of descent.

Source: Courtesy of Mr. R.H. Whitaker.

Image described by caption.

Figure 36.3 Intra‐abdominal left testis. Palpable Undescended Testis (80%)

Undescended Testis 

The testis is located along the path of normal descent and halted on its way down its normal descent into the scrotum (Figures 36.4 and 36.5). With palpation, it may or may not be manipulated into the scrotum. At times, it is difficult to differentiate a truly undescended testis from a retractile testis with strong cremasteric reflex.

Image described by caption.

Figure 36.4 Bilateral undescended testis (palpable in groin).

Image described by caption.

Figure 36.5 Palpable left undescended testis. Note the bulge in groin. Ectopic Testis

The testis is neither in the scrotum nor along the normal path of descent, the testis has gone off course guided there by an errant gubernaculum. Locations of ectopic testis:

  1. In the fat of the abdominal wall above the external ring (the superficial inguinal ectopic pouch).
  2. At the root of the penis.
  3. In the perineum near the midline.
  4. ‘Crural’ in the fat of the thigh over the adductor muscles where it may form part of the so‐called popliteal pterygium syndrome.
  5. Crossed ectopia, where the testis from one side is found in the hemiscrotum on the other side.

However, the most frequent location is in the parascrotal region. Ectopic testis will not descend and will need surgical treatment.

Testes located in the superficial inguinal pouch (Brown’s pouch) are no longer considered an ectopic location. This happens due to initial displacement of the gubernaculum [5]. Retractile Testis

The testis is found anywhere along its normal descent. Retractile testis is usually in the inguinal canal and can be brought down to the scrotum where it remains for an undefined period of time and may go up again with the overactive cremasteric reflex [4]. Squatting or crossed leg positions somehow impairs the reflex facilitating the testis to remain in the scrotum. This occurs between the ages of 1 and 14 years [6]. Ascending Testis

The descended testis retracts back to the inguinal canal, incidence 1–2%, occurring between seven to nine years of age. The cause is usually unknown, however, can be due to inadequate growth of the spermatic cord or a patent processus vaginalis [7]. Nearly 70% of the ascending testes are reported to spontaneously descend at puberty [8]. Orchidopexy is still required as the ascended testes undergo degenerative changes similar to those of undescended testes.

36.1.3 Aetiology

Normal testicular descent requires: [5, 912]

  1. Adequate function of the hypothalamic‐hypophyseal‐gonadal axis (i.e. hormones: androgens, human chorionic gonadotropin [HCG], luteinising hormone [LH], or MIS) and normal androgen receptors.
  2. The appropriate genes and their receptors (Insl3, CGRP, HOX10y11, etc.).
  3. The exposure to endocrine disruptors (pesticides, etc.) that can inhibit the synthesis of cholesterol and testosterone.

Abnormal testes or gubernaculum, or anatomical structural abnormalities (prune belly syndrome and the Beckwith–Wiedemann syndrome, that is, exopthalmos, macroglossia, gigantism, macrostoma, hemihypertrophy, hypoglycaemia, and multilobulated kidneys) can also lead to undescended testes.

Cryptorchidism is not associated with a specific gene; however, it is seen in many chromosomal anomalies and is present in several syndromes. There is also familial predisposition, with a 3.6 times risk of development if a close relative was affected [13].

Nongenetic risk factors can be maternal (e.g. advanced age, obesity, placental insufficiency, diabetes, and twin gestation), environmental (endocrine disruptors), or foetal (e.g. preterm baby, low birth weight or small for gestational age) [14, 15].

36.1.4 Pathophysiology

A scrotal testis has a lower temperature than the core body temperature (33 °C instead of 35–37 °C). An extrascrotal testis suffers biochemical and physiologic alterations and has an abnormal maturation [16]. Because of the higher temperature, undescended testes undergo degenerative changes to the cells, leading to abnormal spermatogenesis [4]. Biopsy of the undescended testis frequently shows a decreased number of germ cells and an absence of progression beyond the formation of spermatocytes in the testicular tubules. Interestingly, as if in compensation Leydig cells are abundant. Fertility

As male fertility is dependent on the maturation of gonocytes to adult spermatocytes within the first three months of life, undescended testes will be unable to mature the cells, leading to a reduced fertility [17].

The estimated risk of infertility is about 30% for bilateral undescended testes and lower, but not normal (7% amongst control group) for unilateral cases. Because epididymal anomalies are commonly associated with cryptorchidism, it is likely that a small number of boys may be infertile subsequently because of epididymal‐testicular dissociation, even if germ cell maturation is normal [18].

The paternity rate in unilateral undescended testis is 70–90%, reducing to 45–65% if bilateral. Fertility seems to improve if orchidopexy is done before two years of age. Untreated bilateral undescended testis shows 100% of patient have oligosperia and 75% have azoospermia. Although treated bilateral undescended testis show that 75% are still oligosperic, 40% azoospermic [4].

Microscopic degeneration changes are seen in testes of boys who have had orchidopexy done after two years of age and significantly less changes seen in those who had it at <2 years. Though more technically challenging, the ideal age is one year to reduce the degenerative changes. Malignancy

The estimated risk of testicular cancer in a previously undescended testis is greater (two‐ to eightfold) than in the general population [7, 19, 20]. In addition to a 4% lifelong chance of cancer development with intra‐abdominal testes. Most paediatric surgeons anticipate that orchidopexy in early infancy (<1 year of age) may avoid this [7]. Tumours may develop in the third or fourth decades of life, mainly seminomas. Other

Undescended testes are at a higher risk of torsion, trauma, or can lead to indirect inguinal hernias due to the patent processus vaginalis.

Cosmetic and social stigma of having one or not testis can cause a huge impact on the psychology, especially in adolescent years.

36.1.5 Diagnosis

History should include whether the testis was palpable at birth, any exposure to hormones during pregnancy, and genetic or hormonal disorder run in the family. Examination to establish if the testes is palpable, if in the inguinal region, can it be brought down. Examination of infants can be difficult and at times done with the baby on the mother’s lap and generous use of lubricants or soaps and careful advancement of the examining fingers along the inguinal canal to the pubis region, to milk the testes down to the scrotum. Examining ectopic locations for possible lumps, as well looking for features of disorder of sex development (DSD), such as genital ambiguity or scrotal hyperpigmentation.

In bilateral impalpable testes, it is important that karyotype is established and the presence of testosterone‐producing testicular tissue be confirmed (with HCG stimulation test). In anorchia with a 46XY karyotype, LH and follicle‐stimulating hormone (FSH) are elevated, testosterone and inhibin B are low and MIS is undetectable. In addition, genetic studies, ultrasonography, or magnetic resonance imaging (MRI) for looking for müllerian structures in cases of DSD suspicion [21, 22]. However, most proceed to an examination under anaesthesia with or without laparoscopy with and out look to treat during surgery [23].

36.1.6 Treatment

The objectives of treatment is to improve fertility [24, 25], prevent malignant transformation [26], and allow an easy examination for early diagnosis of malignancy.

Retractile testes require no treatment, but the child should be examined annually because they have a risk greater than 30% of becoming ascending testes [6]. Hormonal Treatment

Use of HCG or gonadotropin‐releasing hormone (GnRH) to stimulate testicular descent with a claimed success rate of about 20% [4, 27]. However, there is not sufficient evidence for a beneficial effect of hormonal therapy before or after surgery [2732].

Therefore, hormonal treatment is not usually used, however, considered on an individual basis [32].

The Nordic consensus group [33] unanimously concluded that surgery was preferred to hormonal treatment on the basis that:

  • the success rate of hormonal treatment is much lower than this of surgery [32].
  • treatment with HCG may also have adverse effects, such as accelerated germ cell losses impairing future spermatogenesis [33], aggressive behaviour, penis enlargement, and pubic hair growth during administration [32]. Surgical Treatment

The recommended age for orchidopexy is between 6 and 12 months, hoping to improve fertility [7, 8, 25, 26, 3436].

The operation varies depending on whether the testis is palpable or not.

Palpable testes are approached through a classical inguinal incision or a high scrotal incision (Bianchi approach). Unilateral nonpalpable testes are first examined under anaesthesia with or without diagnostic laparoscopy with or without proceeding to treatment [37]. Preoperative imaging in any form is inaccurate and not recommended due to false‐positives and ‐negatives [22].

In bilateral nonpalpable testes, preoperative hormonal studies and karyotype are mandatory [23, 38].

In palpable testes, the operation normally includes different steps. Orchiopexy

The incision is in the crease of the groin, centered over the mid‐inguinal point (Figure 36.6). Slit up the external oblique muscle taking care of the genitofemoral nerve. Separate the cremaster muscle fibres to expose the internal spermatic fascia which is deliberately incised to reveal the processus vaginalis, which usually envelopes the cord (Figure 36.7). It is carefully dissected from the cord; separating the peritoneum is the key to successful orchiopexy (Figure 36.8).

Image described by caption and surrounding text.

Figure 36.6 Crease incision for orchiopexy.

Image described by caption and surrounding text.

Figure 36.7 The cremaster is split along its fibres revealing the processus vaginalis.

Image described by caption.

Figure 36.8 (a) The sac is dissected off the cord. (b) The sac is retracted, and (c) the crescentic fibrous bands that connect the peritoneum and the cord are divided to give length to the testicular vessels.

Further length may be gained by freeing the vessels as they lie in the retroperitoneal space by blind dissection using a wet swab. The tunica vaginalis is opened to inspect the testis and the testiculo‐epididymal junction and to remove testicular appendages.

Make a pocket for the mobilised testis between the skin and the dartos muscle in the scrotum (Figures 36.9 and 36.10). This pocket should be large enough to receive the testis. A buttonhole is made in the dartos to allow the testicle to be brought through and fixed in a subdartos scrotal pouch [39].

Image described by caption.

Figure 36.9 The testicle is mobilised and brought down to the scrotum, taking care not to injure a long loop of vas which could be present distal to the testis.

Image described by caption.

Figure 36.10 (a) A pocket is made for the testicle by dissecting between the dartos and skin of the scrotum. (b) The testicle is brought through a buttonhole in the dartos. (c) The skin is closed with sutures that just catch the tunica albuginea testis.

For impalpable testis, the groin is carefully palpated once the child is under anaesthesia. If, at this point, the testis is palpable, inguinal orchidopexy is the procedure of choice. If not, laparoscopy is performed [18, 23, 37, 4043].

The three likely findings in laparoscopy are:

  • Blind ending vas and vessels short of the internal inguinal ring (vanishing testis).

    In this scenario, nothing further is required. Contralateral fixation orchidopexy can be carried out because torsion could have been the cause of the contralateral testes ‘vanishing’.

  • Cord structures entering the inguinal ring. Inguinal exploration is carried out, and if a viable testis is found, the testis is relocated to the scrotum. If a remnant nubbin is found, it is excised, to remove the nidus of germ cells and prevent the occurrence of malignancy later.
  • A viable intraabdominal testis. The limiting factor to relocate intra‐abdominal testis to the scrotum is the length of the gonadal vessels. The testis is supplied by three main arteries: the main testicular, the vassal, and the cremasteric arteries. The decision to perform either a single‐stage orchidopexy [37] or a two‐staged (Fowler‐Stephens) laparoscopic orchidopexy must be made before any extensive dissection. If the testis is within 2 cm of the deep ring and in cases of peeping testis single stage laparoscopic orchidopexy without division of vessels may be undertaken [37]. In the two‐staged approach, the testis is treated by laparoscopic ligation of the main testicular vessels, giving extra length, with the testis relying on the vassal and collateral vessels for blood supply (Figure 36.11). The second‐stage orchidopexy is performed six months later.

    Using microsurgical techniques, it is possible to anastomose the testicular artery to the inferior epigastric with preservation of viability in the testicle: an exercise that is not pointless when both testes are undescended [40].

Diagram displaying the laparoscopic division of the testicular artery as the first stage of the Fowler–Stephens manoeuvre with lines marking testicular vessels, testis, inferior epigastric vessels, ureter, etc.

Figure 36.11 Laparoscopic division of the testicular artery as the first stage of the Fowler–Stephens manoeuvre.

The postoperative recovery is rapid, with return to full activity within a few days.

The most common complications are wound infection or haematoma, both of which can be minimised by careful haemostasis at operation. Other complications include injury of the vas deferens, the spermatic vessels, and rarely, the testis.

The boys are reviewed again at 6–12 months to ensure testis is viable and in the scrotum. The risk for testicular atrophy is 1%.

There is a small risk of retraction of the testis, which may require redo‐orchidopexy [44, 45].

36.1.7 Agenesis or Absence of the Testis

If the entire urogenital ridge fails to develop, there is no kidney, ureter, testis or vas deferens on one side.

Aplasia may be limited to the gonadal ridge, in which case the kidney and ureter develop, but there is no vas deferens, epididymis, or testis (Figure 36.12). If the müllerian duct inhibiting factor fails to be secreted by the Sertoli cells, then the male child has fallopian tubes and uterus, with a gonad of indeterminate kind, often presenting in a hernia [2].

Image described by caption.

Figure 36.12 (a) If one complete genitourinary ridge fails to develop there is no kidney, testis, vas, or müllerian system on one side. (b) If only the gonadal ridge fails to develop then there is no testis, epididymis, or vas on one side.

Anorchia is an XY disorder of sex development in which individuals have both testes absent at birth.

Congenital anorchia is infrequent and rarely (< 1%) occur bilaterally [4]. Unilateral anorchia or monorchidism is more common. Vascular accidents in gestation appear to be the major cause of anorchia; however, agenesis can also be the cause.

Bilateral anorchia is associated with changes in LH, FSH, and testosterone levels.

Once the diagnosis of bilateral anorchia is made, both sterility and the requirement for androgen‐replacement therapy need to be considered.

For treatment, androgen‐replacement therapy induces pubertal virilisation and maintains it in adult life.

Torsion and orchiectomy or failed orchidopexy for maldescent are the most common causes of acquired anorchia. Clinical evaluation and androgen‐replacement therapy for acquired anorchia are as for congenital anorchia.

It is common to find a vas and an imperfectly formed epididymis but no testis, kidney, and ureter being present. In such cases, the testicle may have undergone torsion in utero.

When the testis is present, the vas deferens may be partly or completely absent from one or both sides. There is a wide variety of such defects, causing obstructive azoospermia. They are often seen in association with undescended testes and represent errors in the union of the gonad with the wolffian duct (Figure 36.13) [19, 20].

Image described by caption.

Figure 36.13 Types of abnormal junctions between the gonad and the wolffian duct component (vas, vesicle, and epididymis).

36.1.8 Polyorchism

Duplication of the testis on one or both sides is so rare, that it calls for exploration to rule out cancer [4649].

Equally rare is the duplication of the vas deferens with a single testis. This can cause failure of the vasectomy if the surgeon fails to notice the additional vas [50].

36.2 Inguinoscrotal Masses

36.2.1 Embryology Review

The processus vaginalis is present in the developing foetus at 12 weeks of gestation. The processus is a peritoneal diverticulum that extends through the internal inguinal ring. As the testis descends, a portion of the processus attaches to the testis as it exits the abdomen and is dragged into the scrotum with the testis. The portion of peritoneum (processus) enveloping the testis becomes the tunica vaginalis. The remainder of the processus within the inguinal canal eventually obliterates. In a significant number of individuals, the processus vaginalis remains asymptomatically patent. A patent processus is only a potential hernia and becomes an actual hernia only when bowel or other intra‐abdominal contents exit the peritoneal cavity into it. Thus, the vast majority of childhood hernias are indirect.

Hydrocele develops if the patency enables passage of only intra‐abdominal fluid. Hydroceles can be categorised into communicating and noncommunicating types.

36.2.2 Indirect Inguinal Hernia and Hydrocele

Indirect inguinal hernias occur when abdominal contents protrude through the deep inguinal ring, lateral to the inferior epigastric vessels, due to failure of closure of the processus vaginalis (Figure 36.14). The incidence of indirect inguinal hernias approximates 1–5% of all children, with a male predominance (~7 : 1). About 60% is right‐sided, 30% is left‐sided, and 10% is bilateral [51].

Image described by caption.

Figure 36.14 Left scrotal swelling (i.e. hernia/hydrocele).

The risk factors include prematurity (16–25%), previous abdominal wall repair (i.e. exomphalos, exstrophy, and gastroschisis), increased intra‐abdominal fluid (i.e. ascites and ventriculoperitoneal shunt), chronic cough, and cystic fibrosis.

Hydrocele is a collection of fluid between the two layers of the tunica vaginalis (i.e. the parietal and visceral layers). The process vaginalis normally obliterates, however if remains patent, leads to a primary hydrocele with communication with the abdominal cavity (i.e. a communicating hydrocele). This can lead to collection of fluid or even bowel content. It remains patent in about 80–90% of newborns; however, only 20% will have it patent by adulthood [4].

With a noncommunicating hydrocele, the process vaginalis partly closed, leading to hydrocele of the cord (a saccular swelling of just the cord) or a scrotal hydrocele. Clinical Presentation

The child with a hydrocele is in a good condition. An elastic, painless swelling is palpable in the scrotum, extending eventually up to the groin. Intermittent filling is usually described by the parents. The differential diagnosis with hernia is facilitated by trans‐illumination.

The child with hernia may present with an inguinal bulge or enlarged scrotum (or labia). Inguinal asymmetry and thickening of the spermatic cord (silk glove sign) might be found.

The principal symptom of incarceration of bowel containing hernias is pain (Figure 36.15). A tender, firm mass is palpated in the groin. Initially the abdominal findings are normal; however, with the development of mechanical obstruction, ileus and lethargy appear.

Image described by caption.

Figure 36.15 Incarcerated inguinal hernia.

Testicular tumours will present as a painless hard mass, though a few might present with pain (Figures 36.16 and 36.17).

Image described by caption.

Figure 36.16 Right scrotal swelling.

Image described by caption.

Figure 36.17 Testicular tumour. Note the inguinal approach. Management

Noncommunicating hydroceles, whose size over time remains constant, tend to resolve spontaneously in the first year of life. If a hydrocele persists beyond two to three years of age or is symptomatic, surgical repair is indicated.

Both hydroceles and hernias are approached through a small inguinal incision. The subcutaneous fat and fascia of Scarpa are opened. The external oblique aponeurosis and external ring are exposed. The patent processus vaginalis (PPV) is separated from the vas deferens and the spermatic vessels. The PPV is then ligated and divided.

In the case of a hydrocele, the distal part of the sac is widely slit, allowing adequate drainage of the fluid.

In girls, the operation is even more straightforward because there is no risk for the vas or the vessels.

In the last years, the laparoscopic hernia repair has been preferred because it offers the ability to visualise the contralateral side and to minimise the risk of injury to the vas deferens [52].

36.2.3 Varicocele

Varicocele is an abnormal dilatation of the pampiniform plexus, caused by reno‐testicular reflux, which leads to venous stasis.

It can be classified as primary, due to venous insufficiency, or secondary, caused by obstruction of the spermatic vein by a retroperitoneal mass or the thrombosis of the left renal vein or vena cava.

About 90% of varicoceles are left sided. This is suggested to arise from the different mode of entry of the right and left testicular vein into the vena cava or left renal vein. The right junction is acute, whereas the left junction is at 90°. The ‘nutcracker phenomenon’ is another theory, according to which, the left renal vein is compressed between the superior mesenteric artery and the aorta.

Varicocele is associated with male subfertility, causing decreased sperm motility [53].

The mechanisms by which it affects spermatogenesis are hypothesised to be the increased scrotal temperature caused by the venous stasis, as well as the reflux of adrenal catecholamines from the left spermatic vein. Clinical Presentation

Usually asymptomatic, varicoceles are found on routine physical examinations in pubertal boys. Occasionally they are noticed by the patient or cause discomfort and diffuse scrotal pain.

Varicoceles are categorised as:

  • Stage 0: subclinical detected only on ultrasound
  • Stage I: palpable only on Valsalva.
  • Stage II: palpable without Valsalva and not visible at rest.
  • Stage III: palpable and visible at rest. Diagnosis

The diagnosis of varicocele is usually established by physical examination with the classical description of a ‘bag of worms’ (Figure 36.18). The boys must be examined in both standing and supine position with the Valsalva manoeuvre.

Image described by caption.

Figure 36.18 Left varicocele.

The size of the testicles must be documented.

A scrotal ultrasound confirms the diagnosis and an abdominal ultrasound is necessary to exclude renal pathology or vascular abnormality. Treatment

Surgical treatment aims to prevent testicular damage and possibly infertility or subfertility.

The surgical principle is to occlude the venous drainage. Different surgical methods are available; the most popular of which has been described by Palomo (high retroperitoneal ligation by an open surgical or a transperitoneal laparoscopic approach.) and Ivanissevich (ligation within the inguinal canal) [54]. The antegrade scrotal sclerotherapy has also been described [55].

The ligation of the testicular artery decreases the recurrence rate but is associated with a 5% risk of testicular atrophy and a 5% risk of hydrocele due to ligation of the associated lymphatics [54, 56, 57].

36.3 The Acute Scrotum

The acute scrotum refers to the common clinical scenario of a boy seen with pain in the scrotum, normally accompanied by swelling and redness of the overlying skin (Figure 36.19). An emergency differential diagnosis is required to manage properly and prevent irreversible changes.

Image described by caption.

Figure 36.19 Acute scrotum acknowledgement.

Source: Photographs courtesy Professor Sandesh Parelkar, KEM Hospital, Mumbai.

The differential diagnosis of the acute scrotum is divided between those affecting the content and those affecting the wall of the scrotum (Table 36.1).

Table 36.1 Differential diagnosis of an acute scrotum.

Conditions affecting the content of the scrotum
Testicular torsion
Torsion of the appendix testis or appendix epididymis
Epididymitis or orchitis
Hernia or hydrocele
Conditions affecting the wall of the scrotum
Idiopathic scrotal oedema
Henoch‐Schönlein Purpura
Fournier gangrene

36.3.1 Testicular Torsion

Torsion of the spermatic cord is a surgical emergency with two anatomical types: extravaginal, where the twist is outside the tunica vaginalis and is found in neonates (Figure 36.20), and intravaginal, where the twist is within the tunica vaginalis due to the bell‐clapper deformity. It is important to recognise that the bell‐clapper malformation is usually bilateral and therefore both sides may be at risk. Intravaginal testicular torsion can occur at any age but is more common in peri‐pubertal boys.

Image described by caption.

Figure 36.20 Extravaginal perinatal torsion of testis. Presentation

Outside the neonatal period, the testicular torsion is an acutely painful event. The testis might be at higher position with an abnormal position (horizontal) as compared to contralateral side and normally the cremasteric reflex is absent. Elevation of the testis reduces pain in epididymitis, but has no effect or even increases in torsion. With passage of time the swelling and the inflammation increases and if not corrected quickly the testis might be lost. Diagnosis

Typically, the diagnosis is clinically established by the history and clinical presentation. No investigation is 100% specific and sensitive to diagnose testicular torsion. Moreover, the urgency of the situation is such, that the surgical exploration and eventual detorsion should not be delayed or postponed. Colour Doppler examination can be helpful to confirm the diagnosis when doubt exists; however, presence of blood flow does not exclude the torsion and may be associated with low blood flow at an early stage or intermittent torsion. Treatment

History and clinical findings that do not exclude testicular torsion should lead to urgent surgical exploration.

Manual detorsion can be attempted by an outwards rotation of the testis, unless there is increased pain or resistance [4]. However, surgical exploration is the gold standard. Once the testis is untwisted, then its colour must be observed, to see whether any recovery is likely (Figure 36.21). You may find even dark testis can slowly recover. If the testis recovers, it should be fixed in the scrotum with nonabsorbable sutures. In case of doubtful recovery, a small incision can be made in the tunica albuginea to see if it bleeds. Necrotic testes should be removed. It is important to explore the contralateral side and fix the testis as well.

Image described by caption.

Figure 36.21 Torsion in undescended testis.

The recovery is rapid; however, the patients must be followed up to ensure that atrophy of the affected testis does not occur and that testicular growth is maintained. Outcome

It has been shown that testicular torsion of longer than six hours is unlikely to be accompanied by testicular recovery. Testicular atrophy occurs after four hours of the cessation of the blood supply, which leads to breaking of the blood‐testes barriers, leading to an immune response to the testicular cells [4]. After six hours of ischaemia, changes are seen in the contralateral testis. The exact mechanism is unknown. It is thought to be the result of an autoimmune‐mediated injury of the contralateral testis [58].

The long‐term outcome of torsion on fertility is variable with 20–50% of patients having abnormal spermatogenesis [4]. Early detorsion (<13 hours) can preserve fertility, while delayed (>3 days) detorsion with or without orchiectomy, can significantly jeopardise fertility [4, 58].

Testicular atrophy after torsion can be related to the direct ischaemic injury or even after detorsion by postischaemic reperfusion injury. Anti‐inflammatory medication and ice packs can reduce this.

There seems to be no effect on endocrine function after torsion with hormonal levels remaining within normal range [4].

36.3.2 Perinatal Testicular Torsion

The torsion of the testis in a newborn is usually seen as a firm scrotal mass. It is an extravaginal torsion and happens before firm fixation of the tunica vaginalis to the scrotal wall occurs. The ultrasound may show a nonhomogenous texture of the testicle and fluid collection in the tunica. The colour Doppler ultrasound confirms the absence of blood flow to the affected testis, which makes the decision favour excision rather than salvation the testis.

Testicular tumour should be kept in mind when facing nontender scrotal masses [59].

36.3.3 Torsion of the Appendix Testis or Appendix Epididymis

The appendix of the testis is a remnant of the müllerian duct and is located on the upper pole of the testis. The appendix of the epididymis originates from the wolffian duct and is situated on the head of the epididymis. The appendices have a thin vascular pedicle that is prone to torsion.

The torsion of the testicular appendix is the most common cause of the acute scrotum. The common age group for presentation of this condition is 7–10 years. Presentation

The onset of pain is gradual but can occasionally be accompanied by nausea and vomiting. Modest tenderness of the scrotum during physical activity is the most common symptom.

During physical examination, a round tender mass might be distinguished at the upper pole of the testis. In up to 25% of patients, the ‘blue‐dot’ sign can be seen (i.e. the appreciation of the discoloured testicular appendix through the scrotal skin) (Figure 36.22) [4].

Image described by caption.

Figure 36.22 Blue dot sign of torsion of testicular appendages. Diagnosis

The scrotal ultrasound shows a cystic lesion at the upper pole of the testis, an enlarged head of epididymis, and reactive hydrocele. The perfusion of the testicular parenchyma is preserved. The urine dipstick is normal. Treatment

The treatment is symptomatic control (nonsteroid anti‐inflammatory drugs and rest). The pain and redness disappear within a few days. If a testicular torsion cannot be excluded at initial examination, a scrotal exploration and excision of the torted hydatid has to be performed urgently.

36.3.4 Epididymitis, Orchitis, and Epididymo‐Orchitis

These infections are a rare condition in children (0.1%) [4]. Possible aetiology is haematogenous viral infection, chemical inflammation due to intravasal reflux of urine in dysfunctional voiding, or in ectopic ureter opening into the vas. Rare bacterial epididymitis is a consequence of canalicular spreading of a urinary tract infection in urethral stricture, urethral anomaly, or ectopic megaureter. In adolescence, the incidence of infection is increasing due to sexually transmitted diseases (mostly chlamydia).

Mumps orchitis can be associated with orchitis. Rarely seen in prepubertal boys, but can occur in 15–30% of adolescents, usually four to eight days after the parotitis.

Infections can cause a reduced testicular size in 50% of prepubertal patients, and abnormalities in semen analysis in about 25% (mainly due to pressure necrosis). Presentation

Gradually increasing tenderness, swelling, erythema of the scrotum, and general signs of inflammation bring the patient to the doctor. The cremasteric reflex is active. Fever and systemic symptoms occur infrequently, (<20% of patients) [4]. Diagnosis

The ultrasound shows swollen epididymis with increased blood perfusion. Reactive hydrocele is a usual accompanying finding.

Urine analysis is necessary to exclude or diagnose a bacterial condition. In adolescents who are sexually active, the microbiological investigations are done to appropriately workup for chlamydia and ureoplasma. Treatment

If a testicular torsion cannot be excluded at initial examination, a scrotal exploration and has to be performed urgently.

Broad‐spectrum antibiotics should be administered until the urine culture and sensitivities are reported, and then they should be corrected accordingly.

In case of recurrent presentation, an ultrasound of the kidneys and bladder should be performed.

36.3.5 Idiopathic Scrotal Oedema

The aetiology of the idiopathic scrotal oedema (ISE) is unknown. The onset is sudden and begins with swelling in either the perineum or the inguinal region, which spreads into the scrotum. The scrotal wall is thick, with firm oedema. It usually affects boys between five and nine years of age. The key distinguishable symptom between ISE and an acute scrotum is pain. ISE is painless, whereas an acute scrotum is painful.

The examination reveals a nontender testis and discomfort in the scrotum.

Management is conservative with nonsteroid anti‐inflammatory drugs.

36.3.6 Testicular Trauma

Open injuries and lacerations are frequent in active boys. Boys affected by testicular trauma usually have an acutely painful and swollen testis together with swelling and bruising of the scrotum. Scrotal ultrasound may reveal a haematocele, intratesticular haematoma, or rupture of the tunica albuginea.

Testicular contusion with a small haematoma is treated conservatively. Laceration of the tunica albuginea, larger haematoma, or haematocele must be surgically revised.

Aug 6, 2020 | Posted by in UROLOGY | Comments Off on Testes Congenital and Childhood Anomalies

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