J Ped Surg Case Reports 1 (2013) 239e240

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Journal of Pediatric Surgery CASE REPORTS

journal homepage: www.jpscasereports.com

Familial isolated congenital penile torsion

Kiarash Taghavi a, *, Vipul Upadhyay a, b, S. Ali Mirjalili c
a
Department of Paediatric Surgery and Urology, Starship Children’s Health, Private Bag 92 024, Auckland Mail Centre, Auckland 1142, New Zealand
b
Department of Paediatrics, University of Auckland, Auckland, New Zealand
c
Department of Anatomy, University of Otago, Lindo Ferguson Building, 270 Great King St., Dunedin 9016, New Zealand

a r t i c l e i n f o a b s t r a c t

Article history: Congenital penile torsion is a three-dimensional abberation in penile development producing
Received 29 December 2012 abnormal helical structures of the corpora. We present a case of isolated congenital penile torsion in
Received in revised form brothers. This is the first indication of a potential hereditary component in the development of
6 April 2013
isolated congenital penile torsion in three decades.
Accepted 8 April 2013
Ó 2013 The Authors. Published by Elsevier Inc. Open access under CC BY-NC-SA license.

Key words:
Congenital penile torsion
Hypospadias
Genetics

Congenital penile torsion (CPT) is a three-dimensional abnor- overwhelming majority only had a mild deformity (87% with an
mality of rotation of the corporal bodies producing an aberrant angle of 11e20
). No neonates were observed to have a degree of
helical structure [1]. The first case of CPT was described with deviation of greater than 60
of the glans [5]. The natural history of
hypospadias in 1857 [2]. this group has not been defined.
The severity of the deformity is based on the degree of glanular The indication for interventions are cosmetic and functional
angulation into mild (<45
), moderate (45e90
) or severe (>90
) [10,11]. It is generally regarded that deformities of greater than 60

[3]. The structural deformity is almost exclusively counter- should be considered for corrective surgery in the absence of
clockwise; in a series of 370 only two of the deformities were associated hypospadias or chordee [4]. The functional sequelae of
clockwise [4,5]. CPT can occur in isolation or in combination with isolated CPT in adulthood are not well described. However in a
hypospadias or chordee; 34 cases have been reported illustrating study of more than 11,000 men presenting to infertility/sexual
this association [4]. dysfunction clinics in Egypt, 12% had penile torsion. The degree of
A limiting factor in diagnosis is glans accessibility, therefore the torsion was only mild in 80% of cases, but 5% had torsion of more
condition may remain unrecognized until circumcision or the than 60
[12].
foreskin becomes retractile. There has been a paucity of data to
define the incidence of isolated congenital torsion, but it was his-
torically considered a rare disease [2,6e8]. In a prospective study of 1. Case report
274 neonates, mild torsion was described in 1.5% and severe iso-
lated torsion in 0.7% [9]. However, a recent study exploring the A four-year-old boy presented with isolated CPT of 90
counter-
incidence in 370 neonates that were exclusively circumcised found clockwise rotation. This was surgically corrected with penile
an incidence of isolated neonatal penile torsion of 30%, although the degloving, rotational correction and redundant skin was resected.
Three months following this he was observed to have a successful
correction with no residual rotation.
Following this his six-year old brother presented with difficulty
directing his urinary stream. He was initially treated with steroid
cream because of adhesive foreskin which was not retractile.
Following this the foreskin could be retracted revealing an isolated
* Corresponding author. Tel.: þ64 (09) 307 4949; fax: þ64 (09) 307 8952. torsion of 30
. He was brought forward for corrective surgery and
E-mail address: [email protected] (K. Taghavi). circumcision for severe phimosis. The phallus was degloved to

2213-5766 Ó 2013 The Authors. Published by Elsevier Inc. Open access under CC BY-NC-SA license.
http://dx.doi.org/10.1016/j.epsc.2013.04.009
240 K. Taghavi et al. / J Ped Surg Case Reports 1 (2013) 239e240

release the skin level penile torsion. There was otherwise no other
family history of urogenital anomalies.

2. Discussion

The only report that acknowledges a potential hereditary

component in the etiology of CPT was published three decades ago.
In this paper Paxson et al. observed congenital torsion in five
newborns, three of whom had a paternal history of penile torsion
[7]. By contrast, the etiology and molecular genetics of hypospadias
has been described much more comprehensively. The overall risk of
Fig. 1. Embryo-pathology of the congenital penile torsion. (A) The development of
a brother of an affected infant also having hypospadias is 9% [13,14].
urethral folds bridging the urethral groove up to but not including the glans during the
There is 18% concordance amongst same-sex twins in both mild and 10th week of development. (B) At the end of the 3rd month the fusion of endoderm
severe hypospadias [15]. and ectoderm has occurred at the midline raphe. (C) and (D) illustrate eccentric
It has been recognized that familial clustering may be at least development of the urethral folds, their fusion off midline results in CPT. (For inter-
partly due to shared environmental exposures [16]. Nevertheless, pretation of the references to color in this figure legend, the reader is referred to the
web version of this article.)
several candidate genes have been identified for further popula-
tion-based evaluation including SRD5A2, HSD17B3 and the AR genes
[15]. DGKK has been implicated as a major risk gene in a population anatomical deformity remains elusive. Bauer and Kogan have hy-
based European study with demonstrated expression on preputial pothesized that the mechanism causing the malformed Buck’s
tissue [17]. fascia is the fetal heel in the groin [10]. This does not explain the
Several androgen receptor antagonists have been implicated in preponderance to counter-clockwise torsion.
animal rat models including dichlorodiphenyltrichloroethane
(DDT) metabolites. These have been correlated to reproductive Conflict of interests
abnormalities including hypospadias at exposure levels similar to None.
some human populations [18]. The culminating multifactorial
model for hypospadias states that when genetic susceptibility and References
antiandrogenic environmental exposure surpass a threshold the
malformation results. [1] Hsieh JT, Wong WY, Chen J, Chang HJ, Liu SP. Congenital isolated penile torsion
in adults: untwist with plication. Urology 2002;59:438e40.
The etiology of isolated CPT is poorly understood [10,19]. There [2] Azmy A, Eckstein HB. Surgical correction of torsion of the penis. Br J Urol 1981;
is a cacophony of models for the abnormal development in CPT, 53:378e9.
which is mirrored by a variety of surgical approaches to achieve [3] Fisher C, Park M. Penile torsion repair using dorsal dartos flap rotation. J Urol
2004;171:1903e4.
correction. CPT has been at least partially attributed to false [4] Bhat A, Bhat MP, Saxena G. Correction of penile torsion by mobilization of
attachment of the ectoderm (skin and dartos fascia) [2,20]. Based on urethral plate and urethra. J Pediatr Urol 2009;5:451e7.
this, penile degloving and mobilization of the tunica has been [5] Sarkis PE, Sadasivam M. Incidence and predictive factors of isolated neonatal
penile glanular torsion. J Pediatr Urol 2007;3:495e9.
proposed as a corrective measure [11]. This technique is successful [6] Jordan GH, Schlossberg SM, Devine CJ. Surgery of the penis, curvatures of the
in correcting the great majority of cases, but not universally [4,19]. A penis. In: Walsh PC, Retik AB, Vaughan ED, Wein AJ, editors. Campbell’s
dorsal dartos rotation technique may provide more scope to treat Urology. W.B. Saunders; 2002. p. 3942e3.
[7] Paxson Jr CL, Corriere Jr JN, Morriss Jr FH, Adcock 3rd EW. Congenital torsion of
severe or refractory cases and can be integrated into coexisting the penis in father-son pairs. J Urol 1977;118:881.
hypospadias or chordee repairs [3]. [8] Pomerantz P, Hanna M, Levitt S, Kogan S. Isolated torsion of penis. Report of 6
Asymmetric development of the corpora cavernosa and conse- cases. Urology 1978;11:37e9.
[9] Ben-Ari J, Merlob P, Mimouni F, Reisner SH. Characteristics of the male geni-
quent corporal disproportion may be the another contributing
talia in the newborn: penis. J Urol 1985;134:521e2.
factor in cases of CPT [19]. Zhou et al. consistently observed a hy- [10] Bauer R, Kogan BA. Modern technique for penile torsion repair. J Urol 2009;
poplastic left corpus cavernosum, and often a fibrous band 182:286e90; [discussion 290e1].
attaching the left corpus to the pubic periosteum. To this end, [11] Bar-Yosef Y, Binyamini J, Matzkin H, Ben-Chaim J. Degloving and realignment
e simple repair of isolated penile torsion. Urology 2007;69:369e71.
release of the fibrous bands and suturing of the lateral aspect of the [12] Shaeer O. Torsion of the penis in adults: prevalence and surgical correction.
tunica albuginea to the pubic periosteum was employed with suc- J Sex Med 2008;5:735e9.
cess [19]. [13] Sorensen HR. Hypospadias with special reference to aetiology. Copenhagen:
Ejnar Munksgaard; 1953.
A more invasive approach in severe cases involves excision of [14] Chen Y, Woolley Jr PV. Genetic studies on hypospadias in males. J Med Genet
angled ellipses from the corporal tissue and plication, the so-called 1971;8:153.
modified Nesbit procedure [21]. Though effective, it is associated [15] Manson JM, Carr MC. Molecular epidemiology of hypospadias: review of ge-
netic and environmental risk factors. Birth Defects Res A Clin Mol Teratol
with neurovascular injury, hemorrhage and penile shortening. 2003;67:825e36.
Bhat et al. have suggested that CPT may be related to eccentric [16] Baskin LS, Himes K, Colborn T. Hypospadias and endocrine disruption: is there
fusion of the ectodermal/endodermal folds as in Fig. 1 [4]. This a connection? Environ Health Perspect 2001;109:1175.
[17] van der Zanden LFM, van Rooij IALM, Feitz WFJ, Knight J, Donders ART,
lateral fusion leads to aberrant mesodermal proliferation and uni- Renkema KY, et al. Common variants in DGKK are strongly associated with
lateral attachment of fascial layers of the penis and spongiosum. risk of hypospadias. Nat Genet 2010;43:48e50.
Circumstantial evidence for this is the fact that deviation of the [18] Gray Jr L, Ostby J, Furr J, Wolf C, Lambright C, Parks L, et al. Effects of envi-
ronmental antiandrogens on reproductive development in experimental an-
median raphe correlates with deviation of the meatus in almost all
imals. APMIS 2001;109:S302e19.
cases. [19] Zhou L, Mei H, Hwang AH, Xie HW, Hardy BE. Penile torsion repair by suturing
All the surgical approaches to CPT have had results that have not tunica albuginea to the pubic periosteum. J Pediatr Surg 2006;41:e7e9.
been replicated in the literature, no studies have reported long- [20] Corriere Jr JN. Involvement of Buck’s fascia in congenital torsion of the penis.
J Urol 1981;126:410.
term outcomes, and there is no consensus on the most effective [21] Slawin KM, Nagler HM. Treatment of congenital penile curvature with penile
approach to repair [10]. Furthermore, the fundamental cause of the torsion: a new twist. J Urol 1992;147:152e4.