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.
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
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.
Disorders of sex development (DSD) include congenital conditions where developments of chromosomal, gonadal or anatomical sex are atypical. Ostrer in 2000, reported a prevalence of 1:20 000 for 46 XY DSD and complete gonadal dysgenesis. A 21-year-old patient consulted for sexual ambiguity at the out-patient department of the Philippine general hospital. At birth, the perceived female external genitalia and clitoromegaly, led the parents to register and eventually rear the patient as a female. At puberty, he developed masculine features and growth of phallus. Patient was more interested in male activities and began to identify himself as male in the community. The discrepancy between his birth certificate and his male gender jeopardised his ambition to become a policeman; this led him to seek medical consult. On physical examination, he was phenotypically male. The external genitalia showed the phallus length of 3.5 cm and perineoscrotal hypospadias. Chromosomal sex was normal 46 XY with neither numerical nor structural aberrations in all cell lines, serum testosterone was low and gonadotrophins were elevated. Whole abdominal CT scan showed bilaterally undescended testes and a 4.5 cm blind vaginal pouch seen on genitogram. Bilateral orchidectomy with first stage repair of hypospadias was performed. On histopathology, the right testis was fibrotic and the left testis showed minimal testicular tissue with absent spermatids. The clinical, endocrine, cytogenetic and histopathologic data are consistent with gonadal dysgenesis syndrome.
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
•The sentence, “Since then fewer than 200 cases have been reported in children and adults2” has been updated to “Since then nearly 230 cases of polyorchidism have been reported with a meta-analysis revealing 140 cases of histologically confirmed polyorchidism in children and adults.2”•The sentence “It occurs mostly on the left side, with only a few reports of right sided polyorchidism3,4” has been changed to “Right sided polyorchidism is less common than on the left side.”•Prenatal testicular torsion reportedly occurs in approximately 6.1 per 100,000 births.7,8 The frequency may be higher given that the infarcted testis gets resorbed giving rise to reports of the “vanishing testis” as is most likely in this case.8 While prenatal testicular torsion is increasingly being recognized and treated as a surgical emergency,9 prenatal testicular torsion in association with polyorchidism has not been previously reported.” has been included.
Polyorchidism was first described by Blasius in 16701 during a routine autopsy. We report a child with unilateral polyorchidism and a contralateral absent testis, a combination not reported previously.
PRESENTATION OF CASE
A 2-year-old boy was referred to the outpatient clinic with an impalpable left testis. At laparoscopy, the left vas deferens and testicular vessels ended blindly proximal to a closed internal ring. No gonadal tissue was identified. On the right side, a single vas deferens and testicular vessels were seen entering the internal ring as normal. The right side of the scrotum was explored and two testes were identified within a single tunica vaginalis.
Polyorchidism is rare with a literature search identifying approximately 230 reported cases. Whilst prenatal testicular torsion is increasing being recognized and treated as a surgical emergency,9 prenatal testicular torsion in association with polyorchidism has not been previously reported.
We describe a unique case of a 2-year-old boy with right-sided polyorchidism and an absent left testis associated with a blind ending vas deferens and testicular vessels, presumed secondary to intrauterine testicular torsion.
Polyorchidism; Intrauterine testicular torsion
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. A great variety of organs have been found in indirect inguinal hernial sacs.
PRESENTATION OF CASE
We report a case of 70 year old man, father of 4 children with unilateral cryptorchidism on the right side and left-sided obstructed inguinal hernia containing 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.
PMDS is usually coincidently detected during surgical operation, as was in our case. However pre-operative ultrasonography, computerized tomography and MRI allow possible pre-operative diagnosis.3
In cases of unilateral or bilateral cryptorchidism associated with hernia, as in our patient's case, the possibility of PMDS should be kept in mind.
Hysterectomy; Inguinal hernia; Male
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.
To simplify and standardize surgical management of hypospadias, a modified tubularised incised plate (TIP) urethroplasty (Snodgrass) technique has been described and a revised hypospadias management algorithm has been formulated. The study aims to evaluate the viability of the described procedure in different types of hypospadias and tests the validity of the algorithm. The modification described is recruitment of penile and glandular skin lateral to the urethral plate to facilitate tubularisation. The algorithm starts with penile degloving with preservation of urethral plate. Snodgrass repair was done in cases with no chordee and where skin chordee resolved by skin take down. Modified Snodgrass repair was done in cases where urethral plate was narrow. Another modification proposed by us is single layer penile skin closure instead of an added dartos flap, which was done in both classical and modified Snodgrass repair. Cases of severe chordee not resolved by skin take down were repaired by transverse preputial island flap (TPIF) and Bracka's technique. Dorsal plication was not used as an orthoplasty modality. It was possible to repair 68.89% of the cases by Snodgrass repair. These patients either had no chordee or had superficial skin tethering (skin chordee) which resolved on degolving. All these cases were coronal, distal and mid penile hypospadias. Remaining cases were mid, proximal and penoscrotal with true fibrous chordee and were repaired by TPIF or Bracka's technique. The Snodgrass technique had a fistula rate of 9.67%. Acceptably, low fistula rate and simple execution make the proposed modification of classical Snodgrass repair a viable option. The proposed algorithm proves to be a useful tool for standardised and logical preoperative decision making. It also defines indications of the three techniques vis-à-vis the type of hypospadias.
Algorithm; chordee; hypospadias; snodgrass; urethroplasty
Testicular cancer is a rare disease. The incidence of testicular cancer in undescended testicles is of 3 to 48 times greater than in the general population. In the developed countries, the existence of undescended testicles in the adult population is rare, due to systematic practice of elective orchidopexy before the second year of life and orchiectomy in post adolescent males with undescended testicles. Despite these prevention measures, there are still some isolated cases of intra-abdominal testicular tumors in adults. We report a case of testicular cancer in cryptorchid testis revealed by supraclavicular lymphadenopathy.
We report a case of a 46 year old fertile man with a history of unilateral cryptorchidism who presented with a palpable left supraclavicular mass and absence of the right testicle. On investigations an intrapelvic testis tumor was diagnosed. Laparotomy and complete excision was carried out. The possible association between the undescended testis and cancer transformations is briefly discussed.
Testicular cancer in undescended testicles should not be ignored. Only early diagnosis and lower of testis in scrotumprevent such clinical forms.
Supraclavicular lymphadenopathy; Testicular tumor; Cryptorchidism
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
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
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
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
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.
We present here a case of 17-year-old boy from Kolkata presenting with obesity, bilateral gynecomastia, mental retardation, and hypogonadotrophic hypogonadism. The patient weighed 70 kg and was of 153 cm height. Facial asymmetry (unilateral facial palsy), gynecomastia, decreased pubic and axillary hair, small penis, decreased right testicular volume, non-palpable left testis, and right-sided congenital inguinal hernia was present. The patient also had disc coloboma, convergent squint, microcornea, microphthalmia, pseudohypertelorism, low set ears, short neck, and choanalatresia. He had h/o VSD repaired with patch. Laboratory examination revealed haemoglobin 9.9 mg/dl, urea 24 mg/dl, creatinine 0.68 mg/dl. IGF1 77.80 ng/ml (decreased for age), GH <0.05 ng/ml, testosterone 0.25 ng/ml, FSH-0.95 μIU/ml, LH 0.60 ΅IU/ml. ACTH, 8:00 A.M cortisol, FT3, FT4, TSH, estradiol, DHEA-S, lipid profile, and LFT was within normal limits. Prolactin was elevated at 38.50 ng/ml. The patient's karyotype was 46XY. Echocardiography revealed ventricularseptal defect closed with patch, grade 1 aortic regurgitation, and ejection fraction 67%. Ultrasound testis showed small right testis within scrotal sac and undescended left testis within left inguinal canal. CT scan paranasal sinuses revealed choanalatresia and deviation of nasal septum to the right. Sonomammography revealed bilateral proliferation of fibroglandular elements predominantly in subareoalar region of breasts. MRI of brain and pituitary region revealed markedly atrophic pituitary gland parenchyma with preserved infundibulum and hypothalamus and widened suprasellar cistern. The CHARGE association is an increasingly recognized non-random pattern of congenital anomalies comprising of coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or deafness. These anomalies have a higher probability of occurring together. In this report, we have described a boy with CHARGE association.
CHARGE; congenital malformations; Hypogonadotrophic hypogonadism
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.
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.
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
Patient: Male, 0
Final Diagnosis: Pallister-Killian syndrome
Symptoms: Decidious tooth • flattened nasal bridge • frontal bossing • grooved palate • low-set ears • mid-facial hypoplasia • nuchal fold thickening • right inquinal testis • shortened upper extremities • undescended left intraabdominal testis • widely spaced nipples
Clinical Procedure: —
Specialty: Pediatrics and Neonatology
Pallister-Killian syndrome (PKS) is a rare, sporadic, polydysmorphic condition that often has highly distinctive features. The clinical features are highly variable, ranging from mild to severe intellectual disability and birth defects. We here report the first case of PKS diagnosed at our institution in a patient in the second trimester of pregnancy.
A pregnant 43-year-old woman presented for genetic counseling secondary to advanced maternal age and an increased risk for Down syndrome. Ultrasound showed increased fetal nuchal fold thickness, short limbs, polyhydramnios, and a small stomach. The ultrasound evaluation was compromised due to the patient’s body habitus. The patient subsequently underwent amniocentesis and the karyotype revealed the presence of an isochromosome in the short arm of chromosome 12 consistent with the diagnosis of Pallister-Killian syndrome. Postnatally, the infant showed frontal bossing, a flattened nasal bridge, mid-facial hypoplasia, low-set ears, a right upper deciduous tooth, grooved palate, nuchal fold thickening, widely spaced nipples, left ulnar polydactyly, simian creases, flexion contractures of the right middle finger, shortened upper extremities, undescended left intraabdominal testis, and right inguinal testis.
The occurrence of PKS is sporadic in nature, but prenatal diagnosis is possible.
Mosaicism; Nuchal Translucency Measurement; Polyhydramnios; Tetrasomy
Cryptorchidism, or maldescended testis, is a common problem encountered in pediatric age groups. Despite more than 100 years of research, many aspects of cryptorchidism are not well defined and remain controversial. However, cryptorchidism clearly has deleterious effects on the testis over time.1–4
Among the problems associated with an undescended testis are an increased risk for testicular tumor development and a propensity for torsion. In cases of bilateral undescended testis, infertility is a concern.1–4
Torsed intraabdominal testis is rarely considered in the differential of acute appendicitis, probably because of a failure to examine the external genitalia as part of the abdominal examination. Most patients with an undescended testis, especially adults, are aware of the absence of the testis within the scrotal sac. The purpose of this report is to highlight a case of torsed abdominal testis which presented with features of acute appendicitis in a 32 year old man who was unaware of the absence of the right testis within the right hemiscrotum.
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
A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner's stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (cortisol 9.08 μg/dl, adrenocorticotropic hormone [ACTH] 82.5 pg/ml) or elevated level of 17-OH-progesterone (0.16 ng/ml). Pooled luteinizing hormone (LH) was 11.79 mIU/ml and follicle-stimulating hormone (FSH) was 66.37 mIU/ml. Serum estradiol level was 25 pg/ml (21-251). Basal and 72 h post beta-human chorionic gonadotropin (hCG) levels of androstenedione and testosterone levels were done (basal testosterone of 652 ng/dl and basal androstenedione of 1.17 ng/ml; 72 h post hCG testosterone of 896 ng/dl and androstenedione of 1.34 ng/ml). Magnetic resonance imaging (MRI) pelvis (with ultrasonogrphy [USG] correlation) revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis (MGD) was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD). The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient's caregivers.
46XY; disorders of sexual differentiation; mixed gonadal dysgenesis
NR5A1 loss-of-function mutations are increasingly found to be the cause of 46,XY disorders of sex development (DSD).
To determine the presence of NR5A1 mutations in an Australasian cohort of 17 46,XY DSD patients with presumed androgen insensitivity syndrome (AIS) who were negative for androgen receptor gene (AR) mutation.
Exons 2-7 of NR5A1 were PCR amplified and sequenced. Gene expression and cellular localization studies were performed on a novel NR5A1 variant c.74A>G (p.Y25C) identified in this study.
We identified one novel mutation, c.74A>G (p.Y25C) in a patient characterized by penoscrotal hypospadias with bifid scrotum. He had elevated testosterone and gonadotropins in early infancy. Functional analysis of p.Y25C in vitro demonstrated reduced transcriptional activation by SF-1 and partially impaired nuclear localization in a proportion of transfected human adrenal NCI-H295R cells.
This is the first reported case of a DSD patient with a NR5A1 mutation and elevated testosterone levels. Our finding supports evaluation of NR5A1 mutations in 46,XY DSD patients with a range of testosterone levels.
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.