Crossed testicular ectopia (CTE)/transverse testicular ectopia (TTE) is a rare but well known congenital anomaly, in which both gonads migrate toward the same hemiscrotum. It is usually associated with other abnormalities such as persistent Mullerian duct syndrome, true hermaphroditism, inguinal hernia, hypospadias, pseudohermaphroditism, and scrotal anomalies. About 100 cases of transverse testicular ectopia have been reported in published studies. We report a case of transverse testicular ectopia in an 8-month-old boy who presented with right inguinal hernia and nonpalpable left testis. On exploration, both testes were present in the right inguinal region. Bilateral orchiopexy was performed by crossing the left testis in the extra-peritoneal space and ipsilateral scrotal orchiopexy. The diagnosis could not be made preoperatively in most of reported cases.
testis; undescended testis; cryptorchidism; testicular ectopia
Persistent Mullerian duct syndrome is a rare form of male pseudo-hermaphroditism characterized by the presence of Mullerian duct structures in an otherwise phenotypically, as well as genotypically, normal man; only a few cases have been reported in the worldwide literature. We report the case of a 30-year-old man with unilateral cryptorchidism on the right side and a left-sided obstructed inguinal hernia containing a uterus and fallopian tube (that is, hernia uteri inguinalis; type I male form of persistent Mullerian duct syndrome) coincidentally detected during an operation for an obstructed left inguinal hernia.
A 30-year-old South Indian man was admitted to our facility with a left-sided obstructed inguinal hernia of one day's duration. He had a 12-year history of inguinal swelling and an absence of the right testis since birth. Our patient had well developed masculine features. Local physical examination revealed a left-sided obstructed inguinal hernia with an absence of the right testis in the scrotum. Exploration of the inguinal canal revealed an indirect inguinal hernia containing omentum, the left corner of the uterus and a left fallopian tube. Extension of the incision revealed a well formed uterus, cervix and upper part of the vagina attached to the prostate by a thick fibrosed band. Total excision of the uterus, bilateral fallopian tubes and right testis was performed. A biopsy was taken from the left testis. The operation was completed by left inguinal herniorraphy. Histopathological examination of the hernial contents was consistent with that of a uterus and fallopian tubes without ovaries. Both testes were atrophied, with complete arrest of spermatogenesis. Post-operative karyotype analyses were negative for 46,XY and Barr bodies on buccal smear. A semen examination revealed azoospermia with a low serum testosterone level.
In cases of unilateral or bilateral cryptorchidism associated with inguinal hernia, as in our patient's case, the possibility of persistent Mullerian duct syndrome should be kept in mind in order to prevent further complications such as infertility and malignant change. Hernia uteri inguinalis is the type I male form of persistent Mullerian duct syndrome, characterized by one descended testis and herniation of the ipsilateral corner of the uterus and fallopian tube into the inguinal canal.
Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are reported in 46,XY disorders of sex development (DSD). We hypothesized that NR5A1 mutations could be identified in boys with hypospadias.
Design and methods
Mutational analysis of NR5A1 in 60 individuals with varying degrees of hypospadias from the German DSD network.
Heterozygous NR5A1 mutations were found in three out of 60 cases. These three individuals represented the most severe end of the spectrum studied as they presented with penoscrotal hypospadias, variable androgenization of the phallus and undescended testes (three out of 20 cases (15%) with this phenotype). Testosterone was low in all three patients and inhibin B/anti-Müllerian hormone (AMH) were low in two patients. Two patients had a clear male gender assignment. Gender re-assignment to male occurred in the third case. Two patients harbored heterozygous nonsense mutations (p.Q107X/WT, p.E11X/WT). One patient had a heterozygous splice site mutation in intron 2 (c.103-3A/WT) predicted to disrupt the main DNA-binding motif. Functional studies of the nonsense mutants showed impaired transcriptional activation of an SF-1-responsive promoter (Cyp11a). To date, adrenal insufficiency has not occurred in any of the patients.
SF-1 (NR5A1) mutations should be considered in 46,XY individuals with severe (penoscrotal) hypospadias, especially if undescended testes, low testosterone, or low inhibin B/AMH levels are present. SF-1 mutations in milder forms of idiopathic hypospadias are unlikely to be common.
Aim. To evaluate surgical procedures adopted
for male genitoplasty in intersex disorders.
Patients and Methods. Case records of
intersex patients undergoing male genitoplasty from Pediatric
Intersex clinic were studied. Results. Of 356 intersex cases
undergoing urethroplasty from 1989–2007, the hypospadias was
penoscrotal (68%), scrotal (17%) and perineal (15%). 351 patients
underwent chordee correction for mild: moderate: severe chordee in
24 : 136 : 191 cases. Byars flaps were fixed upto the corona in 267
cases. Urethroplasty performed was Theirsch duplay in 335 cases,
Snodgrass in 16 cases and Ducketts onlay graft in 5 cases that did
not require chordee correction. Age at urethroplasty was 2.5 years—22 years
(mean 11.5 years, median—5.6 years). Penoscrotal
transposition correction and testicular prosthesis insertion were
performed independently. Complications included fistula (45),
recurrent fistula (11), stricture (12), baggy urethra (8) and
recurrent infection due to persistent vaginal pouch (5).
Additional distal urethroplasty was required in 15 patients for
previous urethroplasty done upto the corona 5–15 years earlier.
Conclusion. Hypospadias in intersex disorders is associated with
severe chordee in most cases and requires an early chordee
correction to allow phallic growth, staged urethroplasty and
multiple surgeries to achieve good cosmetic and functional
Polyorchidism is an extremely rare congenital anomaly which refers to the presence of more than two testicles. There are very few reports of triorchidism in a 2 year old child. Polyorchidism is usually discovered incidentally. The most common anomalies associated with polyorchidism are inguinal hernia (30%), maldescended testis (15% to 30%), testicular torsion (13%) and hydrocele (9%). A 2-year-old child was brought with bilateral undescended testis with normal milestones. Ultrasonography of scrotum and abdomen showed both the testes to be in inguinal canal. Intra-operatively, on left side - there were two testes, which belonged to Leung III class and one testis on right side. Management of polyorchidism is still controversial. The management of polyorchidism will depend upon the location, size and anatomical organisation of the testicular drainage system and the age of the patient.
Fine needle aspiration cytology; follow up; triorchidism
Introduction and Objectives:
Hypospadias is the most common congenital abnormality of the penis, and is most commonly diagnosed during the postnatal physical examination. However, milder forms of the condition can be difficult to detect, leading to delayed referral to specialist teams. We aim to determine whether there is an association between hypospadias and the position of the penoscrotal raphe.
Materials and Methods:
A case — control study was performed where clinical photographs from children undergoing hypospadias correction were compared with a control group of children without the condition. The position of the penoscrotal raphe was documented as midline, left or right. Pearson's chi squared test was used to determine significance.
Images for 80 children undergoing hypospadias correction were compared with 80 normal children in the maternity ward. 88.8% of the children with hypospadias had a penoscrotal raphe deviated from the midline compared with only 13.8% in the control group (P < 0.0003).
Our study demonstrates a significant association between hypospadias and deviation of the penoscrotal raphe from the midline. Consideration should be given to whether to include this finding within the spectrum of abnormalities seen in hypospadias. Examination of the penoscrotal raphe is simple to perform and could aid in the early diagnosis in children with milder forms of the condition.
Deviation; hypospadias; penoscrotal raphe
Transverse testicular ectopia, an extremely rare anomaly, is a deviation of testicular descent resulting in unilateral location of both testes, usually associated with an inguinal hernia, with the spermatic cord of the ectopic testes originating from the appropriate side. In most reported cases, the correct diagnosis was not made preoperatively. But we made a diagnosis of transverse testicular ectopia preoperatively by using the ultrasonography in patient with right-side inguinal hernia and left-side cryptorchism. Left testis was found on the right inguinal area and right testis was found in the right scrotum by ultrasonography, so we could make a diagnosis of transverse testicular ectopia. After right inguinal hemiorraphy, both testes were easily brought down sequentially through the right groin into the scrotum. Left testis was placed in the left hemoscrotum through transceptal incision to the scrotal subdartous pouch.
We report the case of a true hermaphrodite with testicular seminoma with resulting metastases to the inguinal lymph nodes eight months after radical orchidectomy. This is an unusual presentation of testicular cancer and, to the best of our knowledge, the first report of this kind in the literature.
A 45-year-old Caucasian true hermaphrodite, raised as a male, developed a testicular seminoma. He had undergone a left orchidopexy at the age of 10 for undescended testes. Metastases from testicular tumors to inguinal lymph nodes are a rare occurrence. It has been suggested that previous inguinal or scrotal surgery may alter the pattern of nodal metastasis of testicular cancer. We review the literature to evaluate the incidence of inguinal lymph node involvement in early stage testicular cancer and discuss possible routes of metastases to this unusual site. We also discuss the management of the inguinal lymph nodes in patients with testicular tumors and a previous history of inguinal or scrotal surgery, as this remains controversial.
Inguinal lymph node metastases from testicular cancer are rare. A history of inguinal or scrotal surgery may predispose involvement of the inguinal nodes. During radical inguinal orchidectomy, the surgeon should be careful to minimize the handling of the testis and ensure high ligation of the spermatic cord up to the internal inguinal ring to reduce the risk of inguinal lymph node metastasis.
A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system. Cultured lymphocytes showed a 46,XX/46,XY karyotype. Histopathology of the gonads confirmed true hermaphroditism. The presence of two genetically different erythrocyte populations was observed. The findings suggested that the patient is a true hermaphrodite dispermic chimera.
Ovotesticular disorder of sex development (ovotesticular DSD) is defined as the presence of testicular and ovarian tissue in the same individual. Both external and internal genitalia of patients with ovotesticular DSD display a spectrum of phenotypes. Most children present with ambiguous genitalia in combination with unilateral or bilateral undescended gonads. We experienced two late-diagnosed children who presented with proximal hypospadias and bilateral scrotal gonads. One should consider the possibility of ovotesticular DSD when managing patients with proximal hypospadias even if both gonads are palpable in the scrotum.
Disorder of sex development; Ovotestis; Hypospadias
This paper describes a genetically male infant with impaired male sex development and partial 9p monosomy. The external genitalia were ambiguous with microphallus (penile length at birth 10 mm, mean age matched normal length 29 mm (SD 5)), hypospadias, and hypoplastic scrotum. The tests were undescended and severely hypoplastic (testis size at 12 months of age, right 8 x 5 x 4 mm and left 4 x 3 x 2 mm; mean age matched normal size, length 18 mm (SD 2), width 11 mm (SD 1). Cytogenetic studies showed a 46,XY,del(9)(p23) karyotype in all the 30 peripheral lymphocytes and 20 skin fibroblasts examined. Microsatellite analysis for a total of 13 loci assigned to the 9p22-24 region showed that the deleted chromosome 9 was of paternal origin and was missing a region distal to D9S168. Southern blot analysis for D9S47 also confirmed the 9p deletion. The sequence of SRY was normal. The results provide further support for the previously proposed hypothesis that a gene(s) for testis formation is present on the distal part of 9p and indicate in molecular terms that the putative testis forming gene(s) resides in the region distal to D9S168.
Splenogonadal fusion is a rare developmental anomaly in which an abnormal connection between splenic tissue and gonads or mesonephric derivatives is present. Here we present a case of young man with the complaint of primary infertility for 3 years. On evaluation (USG and MRI abdomen and pelvis), his right scrotal testis was atrophied and left intra-abdominal undescended testis. On laparoscopic assessment, a mass was seen on the left side due to continuous type of splenogonadal fusion for which excision and left orchidectomy were done. Postoperative period was uneventful and he was discharged under satisfactory condition. Splenogonadal fusion is a rare entity and it is commonly mistaken for testicular tumour. It should be considered in the differential diagnosis of testicular masses especially when there are associated congenital anomalies and preoperative laparoscopic assessment, should be done to avoid unnecessary radical surgery.
46,XX subjects carrying the testis determining SRY gene usually have a completely male phenotype. In this study, five very rare cases of SRY carrying subjects (two XX males and three XX true hermaphrodites) with various degrees of incomplete masculinisation were analysed in order to elucidate the cause of sexual ambiguity despite the presence of the SRY gene. PCR amplification of 20 Y chromosome specific sequences showed the Yp fragment to be much longer in XX males than in true hermaphrodites. FISH analysis combined with RBG banding of metaphase chromosomes of four patients showed that in all three true hermaphrodites and in one XX male the Yp fragment was translocated onto a late replicating inactive X chromosome in over 90% of their blood lymphocytes. However, in a control classical XX male with no ambiguous features, the Yp fragment (significantly shorter than in the XX male with sexual ambiguity and only slightly longer than in XX hermaphrodites) was translocated onto the active X chromosome in over 90% of cells.
These studies strongly indicate that inactivation on the X chromosome spreading into a translocated Yp fragment could be the major mechanism causing a sexually ambiguous phenotype in XX (SRY+) subjects.
Keywords: sex determination; X inactivation; SRY gene
Spigelian hernia (SH) is rarely seen in pediatric age group and is usually associated with cryptorchidism on the same side; termed as a syndromic association of the defect in the Spigelian fascia and absence of gubernaculum and inguinal canal. The absence of the inguinal canal has surgical implication as to placement of the undescended testis into the scrotum. A 3-month-old baby presented with spigelian hernia and ipsilateral impalpable testis. The spigelian hernia was repaired and undescended testis which was present in abdominal wall layers was brought to scrotum with cord structures anterior to external oblique muscle.
Spigelian hernia; Cryptorchidism; Inguinal canal; Agenesis
The objective of this study was to stress the importance and value of this route to neo-inguinal canal creation for undescended testis management laparoscopically.
MATERIALS AND METHODS:
Data from the Department of Paediatric Surgery, Coimbatore Medical College, was taken. Retrospective study was undertaken for the period 2004 to 2008. Here the surgical technique and outcome of the treatment are recorded for children aged 1 year to 12 years.
A total of 126 children underwent laparoscopic stage II surgery by this route (medial to the medial umbilical ligament). Right-sided undescended testis (UDT) was present in 76 (60%) patients. Left-sided UDT was present in 45 (35%) patients. Bilateral UDT was present in 5 (5%) patients. There were 90 (71%) patients aged less than 2 years and 36 (29%) patients aged more than 2 years. The eldest patient was 12 years of age. The overall hospital stay was 1 day. There were no complications seen in the follow-up. In all cases, the testis could not be brought down in a single stage.
Creation of neo-inguinal canal medial to the medial umbilical ligament and just lateral to the bladder has the advantage of gaining more length on the vessels and vas to bring the testis to scrotum. The laparoscopic management of undescended testis in stage II by this innovative new route is simple, less complicated and well tolerated.
Medial; neo-inguinal canal; umbilical ligament; undescended testis
Transverse testicular ectopia (TTE) is a rare anomaly in which both testes descend through a single inguinal canal. We report a case of yolk sac tumor in the ectopic testis of a patient with TTE. A 24-year-old man presented to our hospital with a left inguinal-mass, right cryptorchidism and elevated alpha-fetoprotein (AFP). A left herniotomy 3 years earlier demonstrated both testes in the left scrotum, one above another positionally. Four months ago, a left scrotal mass appeared and radical orchiectomy of both testes revealed testicular yolk sac tumor of the ectopic testis. An enlarging left inguinal-mass appeared 2 months ago and he was referred to our hospital. Laboratory data showed an elevation of AFP (245.5 ng/ml) and a 46 XY karyotype. He underwent bilateral retroperitoneal lymph node dissection and simultaneous left inguinal mass dissection. Histopathologic examination revealed a diagnosis of recurrent yolk sac tumor in the left inguinal mass. The retroperitoneal lymph node was not enlarged and, on histopathology, was not involved. The patient has now been followed up for 8 months without evidence of biochemical or radiological recurrence.
Recently, it has been reported that boys with severe hypospadias are at increased risk
for acquired cryptorchidism. The reports suggested that prenatal and postnatal androgen
disruption might be correlated with this condition. We experienced a case of ovotesticular
disorder of sex development (DSD), which was ultimately diagnosed at surgery for acquired
cryptorchidism. Ascent of the scrotal contents of the left side was detected in a 7-yr-old
boy with the 46, XX karyotype, who had a history of perineal hypospadias repair.
Intraoperative findings revealed the left gonad consisted of 2 segments, and this was
histologically diagnosed as ovotestis by biopsy specimen. Resection of the ovarian segment
was performed simultaneously. Exploration of the contralateral gonad showed the same
findings. This is the first report of acquired cryptorchidism observed in a patient with
DSD presenting with ambiguous genitalia.
acquired cryptorchidism; hypospadias; disorder of sex development; ambiguous genitalia
The incidence of undescended testis (UDT) along with hypospadias varies from 6 to 31%. The simultaneous repair of UDT and hypospadias is rarely done. Herein, we present a novel technique to use processes vaginalis as a vascular cover for neourethra in a hypospadias patient with UDT. We have done urethroplasty and orchiopexy simultaneously. This is the first report concerning the use of processes vaginalis to reinforce the urethra.
Simultaneous repair of hypospadias and undescended testis.
Both the patients withstood the procedure well. Postoperative period was uneventful. Patients passed urine in single stream without any fistula.
In patients of undescended testis with hypospadias, simultaneous repair with the processes vaginalis flap is an ideal technique with good results. Processes vaginalis is good vascular cover for neourethra.
Hypospadias; processes vaginalis; undescended testis; urethrocutaneous fistula
Investigation of abnormal sexual development in companion animals can allow for the elimination of inherited disorders from breeding populations while contributing to the understanding of the complex process of mammalian sexual development and differentiation. A 1-year-old mixed-breed cat, presented for neutering, was tentatively diagnosed as a male with bilateral cryptorchidism. During surgery, the surgeon identified gonads in an ovarian position and a complete bicornuate uterus. Both testicular and ovarian architecture in the gonads and Mullerian and Wolffian duct derivatives were identified histologically. The karyotype was that of a normal male (38,XY), and no causative mutation was identified in the feline SRY coding sequence amplified from genomic DNA. All features of the case were compatible with a diagnosis of SRY-positive 38,XY sex reversal, true hermaphrodite phenotype. To the authors’ knowledge, this is the first report of this disorder in a domestic cat.
feline SRY; ovotestes; XY disorder of sexual development; XY sex reversal; XY true hermaphrodite
Laparoscopy is the best available method to manage impalpable undescended testes. We performed our first laparoscopic orchiopexy in June 1992 and found good results in consecutive cases with laparoscopic orchiopexy over last 20 years.
MATERIALS AND METHODS:
From June 1992 to May 2012, 241 patients with 296 impalpable testes were operated upon by laparoscopic approach. One-stage laparoscopic orchiopexy was performed in 152 cases, while two-stage Fowler — Stephens laparoscopic orchiopexy was performed in 55 cases. Laparoscopic orchiectomy was required in 20, and in 21 patients testes were absent. One-sided laparoscopic orchiopexy was performed in a male pseudo hermaphrodite.
None of the testis atrophied after two-stage Fowler — Stephens laparoscopic orchiopexy, while in 152 cases of single-stage orchiopexies one testes atrophied. One patient developed malignant change in the testis, 6 years after orchiopexy.
Laparoscopy is the best way to diagnose impalpable undescended testes. No other imaging investigation was required. Single-stage laparoscopic orchiopexy for low level undescended testis has very good results. For high-level undescended testis and when one-stage mobilisation is difficult, two-stage Fowler — Stephens orchiopexy has excellent results. Minimum 4 months should separate first and second stage of laparoscopic Fowler — Stephens procedure. Even when open orchiopexy is being done for intra-canalicular testes in a child, it is advisable to be ready with laparoscopy if necessary, at the same time, in case open surgery fails to mobilise the testicular vessels adequately.
Abnormalities; cryptorchidism; laparoscopic surgical procedures; testis
Double left anterior descending coronary artery arising from the left and right coronary arteries is one of the rarest of coronary anomalies. In this report, we present a case of double left anterior descending coronary artery with one originating from the left main stem and the second one originating from the same ostium with the right coronary artery, passing to the left side following an inter-arterial course between aorta and right ventricular outflow tract and spreading to the anterior wall of the left ventricle. The diagnosis was made with multislice computed tomography angiography. To our knowledge, only a few such cases have been published in the literature so far.
Coronary artery anomaly; computed tomography coronary angiography; double left anterior descending artery
To report the results of an early series of patients who underwent modified Koyanagi repair for severe hypospadias.
Materials and Methods:
A total of 24 boys (age: 9 months to 11 years) with proximal hypospadias, chordee, and poor urethral plate underwent modified Koyanagi repair between September 2008 and January 2012. Nine boys had associated penoscrotal transposition that was corrected simultaneously. Vascularized parameatal based foreskin flap was used to correct the hypospadias in a single stage. The follow-up ranged from 6 months to 3.5 years.
A total of 13 of the 24 children had a good outcome and were voiding normally, while 11 boys developed complications, 3 of which were major and 8 minor. The major complications were complete breakdown (n = 1), meatal and distal neourethral stenosis requiring laying open of distal urethra (n = 1), and glans breakdown (n = 1). The minor complications included fistulae (n = 5), meatal stenosis amenable to dilatation (n = 1), and lateral chordee (n = 1). Majority of the complications were in the initial patients, with successful outcomes in the last 1 year. Most of these complications were successfully managed by minor second procedures.
Modified Koyanagi repair not only corrects severe hypospadias with chordee but also corrects the associated penoscrotal transposition in a single stage. The results are good once the learning curve is crossed.
Chordee; modified Koyanagi; proximal hypospadias; parameatal foreskin flap
We report a case of testicular torsion in a 14-month old boy. Testicular ischemia was suspected based on history and clinical presentations. The patient was referred following 24 hours of left acute scrotum. Erythema, swelling and tenderness associated with nausea and emesis were present, but the patient was not febrile. We used a spatially resolved near-infrared spectroscopy (SR-NIRS) device to study and compare the tissue saturation index (TSI) on both right and left spermatic cords. The TSI was significantly reduced in the left side. Both testicles were surgically explored and the left testis was found non-viable with a 1080-degree intra-vaginal torsion. NIRS monitoring of spermatic cord oxygen saturation appears feasible as a non-invasive bedside optical method to identify testicular torsion.
We examined 3534 boys for cryptorchidism at birth, and, if present, again at 3 months of age. We compared Scorer's standard criterion for cryptorchidism, based on measurement of the testis from the public tubercle, with the simpler criterion of whether the testis was in the normal position, well down in the scrotum. At birth 210 (5.9%) boys were cryptorchid by measurement and 220 (6.2%) by position. By 3 months of age the cryptorchidism rate was identical (1.6%) whichever criterion was used. We therefore recommend that position be used as the sole criterion for diagnosing cryptorchidism. There was a clear decrease in the cryptorchidism rate with increasing birth weight. A testis that was undescended at birth was more likely to descend spontaneously by 3 months the lower its position along the normal pathway of descent. For a given position of the testis, cryptorchid babies weighing less than 2500 g had a greater chance of spontaneous descent by 3 months than larger babies. An independent effect of gestation is suggested; cryptorchid babies of less than 37 weeks' gestation were more likely to have normally descended testes at 3 months than babies of longer gestation.
The female internal sex organs develop from the paramesonephric (Mullerian) duct. In male embryos, the regression of the Mullerian duct is caused by the anti-Mullerian hormone (AMH), which plays an important role in the process of testicular descent. The physiological remnant of the Mullerian duct in males is the appendix testis (AT). In our previous study, we presented evidence for the decreased incidence of AT in cryptorchidism with intraoperative surgery. In this report, the expression of the anti-Mullerian hormone receptor type 2 (AMHR2), the specific receptor of AMH, on the AT was investigated in connection with different urological disorders, such as hernia inguinalis, torsion of AT, cysta epididymis, varicocele, hydrocele testis and various forms of undescended testis. The correlation between the age of the patients and the expression of the AMHR2 was also examined. Reverse transcriptase-polymerase chain reaction (RT-PCR) and immunohistochemistry were used to detect the receptor's mRNA and protein levels, respectively. We demonstrate that AMHR2 is expressed in the ATs. Additionally, the presence of this receptor was proven at the mRNA and protein levels. The expression pattern of the receptor correlated with neither the examined urological disorders nor the age of the patients; therefore, the function of the AT remains obscure.
anti-Mullerian hormone receptor (AMHR); appendix testis (AT); hernia inguinalis; retention testis; testicular descent; testis retractile