ORIGINAL ARTICLE

Congenital absence of the vas deferens and unilateral renalagenesis: implications for patient and family

Victoria Alison Lane • Simon Scammell •

Noreen West • Govind V. Murthi

Accepted: 22 May 2014 / Published online: 31 May 2014

� Springer-Verlag Berlin Heidelberg 2014

Abstract

Background and aims At routine groin surgery in male

paediatric patients occasionally the vas deferens may be

absent. This finding usually leads to investigations to estab-

lish the status of the contralateral vas deferens and the status

of the kidneys. It is not uncommon to find either an ipsilateral

renal agenesis or congenital bilateral absence of the vas

deferens. The latter finding prompts a test for cystic fibrosis.

We report three patients who upon investigation were found

to have the rare combination of congenital bilateral absence

of the vas deferens and unilateral renal agenesis, and discuss

the possible embryological basis, the clinical management

and the long-term implications of these findings.

Patients and methods We present three patients who were

incidentally found to have absence of the vas deferens

whilst undergoing elective groin surgery and following

further tests were diagnosed with congenital bilateral

absence of the vas deferens and unilateral renal agenesis.

The case notes were reviewed, together with the results of

radiological investigations, cystic fibrosis screening and the

status of the contralateral vas deferens.

Results All three patients were found to have congenital

bilateral absence of the vas deferens, unilateral renal

agenesis and were not found to have cystic fibrosis.

Conclusions The combination of congenital bilateral

absence of the vas deferens and unilateral renal agenesis,

without cystic fibrosis, is rare and not reported previously

in the paediatric literature. These findings require appro-

priate counselling of the parents and child, with regards to

the long-term implications of infertility and renal function.

Keywords Absent vas deferens � Renal agenesis �Congenital

Introduction

Groin surgery is commonly undertaken in male paediatric

patients for the correction of inguinal hernia, hydrocele or

the undescended testis. Occasionally, absence of the vas

deferens will be demonstrated and many paediatric sur-

geons will simply perform a renal ultrasound to look for

ipsilateral renal agenesis. We feel that it is also important to

establish the status of the contralateral vas deferens (by

concomitant laparoscopic evaluation or contralateral groin

exploration) in addition to looking for abnormal renal

anatomy. The finding of congenital bilateral absence of vas

deferens (CBAVD) will automatically lead to the child

being screened for cystic fibrosis (CF). On rare occasions,

however, these investigations will reveal the unusual

combination of CBAVD and unilateral renal agenesis

(URA). Here, we report three patients diagnosed with

CBAVD and URA and discuss the possible embryological

basis for the uncommon entity, the clinical management

pathway and the long-term implications of these findings.

Cases

Case I

An 18-month-old boy, previously known to have a solitary

left kidney, was referred with an undescended left testis.

He underwent a left orchidopexy at the age of 2 years,

when an absent left vas deferens was noted. At routine

outpatient review 6 months later, the testis had re-

V. A. Lane (&) � S. Scammell � N. West � G. V. Murthi

Sheffield Children’s Hospital, Sheffield, UK

e-mail: vic4lane@btinternet.com

123

Pediatr Surg Int (2014) 30:733–736

DOI 10.1007/s00383-014-3522-x

ascended, and was palpable in the groin. At the time of

repeat orchidopexy, laparoscopy confirmed the presence of

bilateral absence of the vas deferens. A left orchidectomy

was performed, and histology confirmed a normal testicle

with rudimentary epididymis. Cystic fibrosis screening for

the common Western Europe mutations and a subsequent

sweat test were negative.

Case II

A 2-month-old male infant born at 34/40 with an antenatal

history of maternal drug use and intrauterine growth

restriction was diagnosed post natally to have a left inguinal

hernia and was referred for surgical assessment. At laparo-

scopic hernia repair, he was found to have bilateral inguinal

herniae and CBAVD. On renal USS, he was found to have

left renal agenesis. CF screening was negative.

Case III

A 2 � year old boy underwent surgery for an undescended

right testis. At operation, he was found to have an absent

right vas deferens. Laparoscopy was performed and con-

firmed CBAVD and renal USS showed right renal agenesis.

CF screening was negative.

These clinical findings and investigations are summa-

rised in Table 1.

Discussion

Embryology

Development of the genital system is closely integrated

with the developing renal system. Three systems

develop from the intermediate mesoderm: (1) the cer-

vical nephrotomes (which are non-functioning), (2) the

mesonephros which functions briefly in fetal life and

(3) the sacral metanephric system, which forms the

definitive kidneys.

The mesonephros and the mesonephric ducts develop

simultaneously, following involution of the initial cervical

nephrotomes in the intermediate mesoderm. Early in the

4th week of gestation, the mesonephric tubules develop

within the mesonephros (the lateral tip of each meso-

nephric tubule fuses with a mesonephric duct) forming an

excretory unit, which functions from weeks 6–10 and then

regresses. In the female, the mesonephric ducts also

regress; however, in the male, the mesonephric ducts per-

sist to form the genital duct system. The final renal system

is dependent on the ingrowth of the branching ureteric buds

into the metanephric blastema, giving rise to the charac-

teristic lobulated appearance we recognise as the definitive

kidney.

Each mesonephric duct, in the male, has two derivatives:

(1) the ipsilateral ureteral/renal system and (2) the ipsilat-

eral vas deferens, seminal vesicle and distal two-thirds of

the epididymis. The physical separation of these two limbs

occurs at about 7 weeks of gestation [1]. If an insult,

whether genetic or toxic in nature, occurs prior to week 7,

the entire mesonephric duct and its derivatives will be

adversely affected. If the insult occurs after this time per-

iod, only one of the two bi-products may be affected. It is

thus postulated that in patients with CBAVD/URA, the

insult has occurred after 7 weeks of gestation, leading to

absence of the vas deferens and the ipsilateral renal unit

with preservation of the contralateral renal unit. The reason

for the insult affecting both derivatives on one side and

only the vas deferens on the contralateral side, leading to

CBAVD/URA, remains elusive.

Since males afflicted with clinical CF and bilateral

absence of the vas deferens have normal renal anatomy,

CFTR mutations probably do not affect the primitive

mesonephric duct, and may exert their effect only on the

developing reproductive ductal derivatives including the

vas deferens, seminal vesicle and distal epididymis [2].

One theory postulates that atrophy and involution of the

vas deferens and epididymal structures is caused by pro-

gressive obstruction of the genital duct by mucus and

secretory protein accumulation, as a similar process to this

Table 1 Patient summary Patient Presentation and

findings

Renal USS CF screening Sweat

test

1.Term infant Left

Undescended testis

Right

Renal agenesis

Normal CFTR screen for the

common Western Europe

mutations

Negative

2.34/40 gestation Left

Inguinal hernia

Left

Renal agenesis

Normal CFTR screen for the

common Western Europe

mutations

Negative

3.Term infant Right

Undescended testis

Right

Renal agenesis

Normal CFTR screen for the

common Western Europe

mutations

Negative

734 Pediatr Surg Int (2014) 30:733–736

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is seen in the pancreas in those with CF [2]. Gaillard et al.

[2] studied the aborted fetuses at 12 and 18 weeks of

gestation, in those with an antenatal diagnosis of CF. No

abnormality was seen in the vas deferens, suggesting a later

insult, supporting this theory. However, patients with

CBAVD (without CF) do not have altered secretions con-

tradicting this theory and hence, the cause of the CBAVD

remains unclear.

In this regard, it is possible that men with CBAVD/

URA have a different genetic basis for their renal and

vasal agenesis, to men with CBAVD/CF with normal

renal anatomy. The presumed genetic anomaly would

disrupt precise morphogenesis of the early mesonephric

ducts. The most severe phenotypic manifestation would

be bilateral renal agenesis, whereas men with CBAVD/

URA obviously possess a less severe phenotype. The

transmission pattern has obviously been difficult to

establish, as these men are infertile. However, with the

advent of assisted reproduction techniques this is now

potentially possible.

Relation of CBAVD/URA to CF

Congenital bilateral absence of the vas deferens (CBAVD)

in isolation is associated, most commonly, with cystic

fibrosis (CF) and is recognised to occur in 98 % of males

with the disease and the associated infertility is well

recognised. Also, it is generally presumed that CBAVD

patients with abnormal renal anatomy do not have CFTR

gene mutations.

In 1994, Augarten et al. [3] identified 47 adult patients

with CBAVD and the results of subsequent investigations

are summarised below in Fig. 1. None of the 10 patients

with renal malformations had cystic fibrosis mutations, and

sweat chloride concentrations were normal, leading them to

suggest that CBAVD patients with renal malformations do

not necessarily have cystic fibrosis. This was supported by

subsequent studies [4, 5].

Robson et al. [6] stated that 70 % of boys with URA will

have congenital unilateral absence of the vas (CUAVD),

epididymis or seminal vesicle (CUAVD/URA), but the

finding of CBAVD/URA is more unusual. CFTR mutations

are generally not seen in this subset, and the pathophysi-

ology of boys with these combined abnormalities may not

be part of the CF mutation spectrum but may represent a

different, discrete clinical and genetic entity.

Whilst the various embryological and genetic hypothe-

ses suggest that CBAVD/URA has a different aetiological

basis to CBAVD associated with CF, of interest is the

report by Daudin et al. [7]. They have reported four adult

patients with the combination of CBAVD/URA. Two of

these patients in fact carried a CFTR gene mutation

(DF508/5T–9T and R117G/7T–9T) and the other two

patients were free of CFTR mutations and the 5T allele.

This finding shows that our understanding of the aetiology

of this condition is far from complete. On a clinical level, it

indicates the need to perform genetic testing in all patients

with CBAVD/URA as some may have associated

CF-related genetic abnormalities with implications for

47 patients with CBAVD

37 (79%) with normal

renal anatomy

10(21%)with renal malformations

18/37 (49%) CFTR mutation identified

17/26 (65%) High sweat chloride

10/10 (100%)No CFTR mutationidentified,Sweat chloridenormal

Fig. 1 Schematic representation of findings upon investigation of 47

patients with CBAVD by Augarten et al. [3]

Absent vas at groin exploration

Concomitant laparoscopic visualisation for status of

opposite vas+

Renal ultrasound scan

Bilateral absence of vas

Test for CF irrespective of renal status

Unilateral absence of vas Normal kidneys orUnilateral renal agenesis

Fig. 2 Recommended pathway

upon finding absent vas at groin

exploration

Pediatr Surg Int (2014) 30:733–736 735

123

counselling and further management not only of their

expected infertility, but also of the CF-related genetic

abnormalities.

Previously, the inheritance pattern of CBAVD was dif-

ficult to ascertain due to the functional infertility. However,

with the increased use of assisted conception, this is now

potentially possible. McCallum et al. [8] looked at the rates

of URA in the CBAVD population presenting with infer-

tility. They identified 168 men with CBAVD. The majority

of their patients 97 (58 %) had CBAVD, normal renal

anatomy and an identifiable CFTR mutation. 17/168

(10 %) had CBAVD/URA and no CFTR mutations. Two

men were found to have a pelvic kidney. The remaining 54

were excluded from the study because of inadequate data.

Of potential interest in this study, were the 17 men with

CBAVD/URA, as 12 opted for assisted conception

enabling possible inheritance patterns to be ascertained.

Family members were screened for abnormal renal anat-

omy (15 parents, 15 siblings, 10 conceptions and 3 nieces/

nephews). One fetus was found to have bilateral renal

agenesis and the pregnancy was terminated. At post mor-

tem, the fetus was found to have complete renal agenesis,

absent ureters and absent vas deferens bilaterally. All other

relatives were normal, unfortunately drawing little

conclusion.

Patient management algorithm

When absence of vas deferens is identified at groin

exploration, we recommend the following sequence of

investigations as shown in Fig. 2.

Counselling issues in the paediatric population

Parents of patients with CBAVD/URA need counselling

for the long-term implications of infertility and a single

kidney. In our institution, they are counselled for these

issues by our Cystic Fibrosis team and the nephrologist,

respectively.

Conclusion

In conclusion, the exact pathophysiology of CBAVD

remains poorly understood. The findings of an absent vas

deferens, at the time of groin surgery, should prompt the

surgeon to: (1) explore the status of the contralateral vas

deferens, preferably by laparoscopy under the same general

anaesthetic, and (2) conduct a renal tract ultrasound scan.

The finding of CBAVD should prompt tests for CF, irre-

spective of the status of the kidneys. Where the rare

combination of CBAVD/URA is discovered appropriate

counselling should be arranged.

References

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deferens. J Urol 120:597–604

2. Gaillard DA, Carre-Pigeon F, Lallemand A (1997) Normal vas

deferens in fetuses with cystic fibrosis. J Urol 158:1549–1552

3. Augarten A, Yahav Y, Kerem Bs et al (1994) Congenital bilateral

absence of the vas deferens in the absence of cystic fibrosis. Lancet

344:1473–1474

4. Dork T, Dworniczak B, Aulehla-Scholz C et al (1997) Distinct

spectrum of CFTR gene mutations in congenital absence of vas

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5. Schwarzer JU, Schwarz M (2012) Significance of CFTR gene

mutations in patients with congenital aplasia of vas deferens with

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