Bilateral Undescended Testes Research Articles

PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development.

Abstract Introduction XYdisorders of sex development (DSD) result from variants in many different human genes but frequently have no detectable molecular cause. In approximately 25% of cases of XY DSD, the index case may have associated malformations. Genetic disorders of endoplasmic reticulum (ER) function are increasingly being recognised but have not been associated with DSD or pituitary disorders. Clinical case Three siblings (with unaffected non-consanguineous parents) were reviewed at the tertiary endocrine clinic. Child I was noted at birth to have cliteromegaly. Imaging and examination under anaesthetic revealed a normal vagina and uterus but gonads of indeterminate origin. She was 46,XY and basal endocrine investigations at the age of 4 years showed a low AMH for male but otherwise normal gonadal and thyroid function and normal IGF-1. She had a laparoscopic bilateral gonadectomy aged 5 years. Pathology demonstrated bilateral testicular tissue, with substantial fibrotic atrophic change and occasional placental alkaline phosphatase (PLAP) positive cells, suggestive of germ cell tumours. Aged 8 years she developed obesity and later hypertension. Child II was reviewed due to short stature and diagnosed with GH deficiency aged 2 years. She has normal adrenal and thyroid function and gonadotrophins. MRI demonstrated an ectopic posterior pituitary. Child III presented with perineal hypospadias, a small phallus, bilateral undescended testes and craniofacial abnormalities. Endocrine investigations revealed hypogonadotrophic hypogonadism, with no testosterone response to hCG stimulation, a low normal AMH and no response of LH or FSH on LHRH stimulation. He has panhypopituitarism with an ectopic posterior pituitary gland on MRI and is currently on treatment with GH, hydrocortisone and levothyroxine. His BP is on the 98th centile for age and height. Child I and Child III have mild developmental delay but are in mainstream school with additional educational support. High-throughput DNA sequencing revealed, in all three siblings, a heterozygous truncating variant in the SEC31A gene that encodes a component of the COPII-complex that coats the vesicles mediating ER to Golgi transport. CRISPR-Cas9 targeted knockout of the corresponding Sec31a region resulted in embryonic lethality in homozygous mice. mRNA phenotyping of ER-related genes demonstrated increased mRNA expression of ATF4 and CHOP in the affected children, genes encoding key ER stress-related proteins, associated with defective protein transport. Conclusions Dysregulation ofanterograde and retrograde COPII-coated-vesicle ER-Golgi transport is increasingly recognised to underlie human developmental disorders, including Craniolenticulosutural dysplasia (OMIM 607812) and Saul-Wilson syndrome (OMIM 618150). The de novo SEC31A nonsense variant in all three affected siblings, the ER stress response, plus reported developmental syndromes with dysfunction of this transport mechanism and evidence from the preclinical mouse model suggest that SEC31A might underlie a previously unrecognised clinical syndrome comprising DSD, endocrine abnormalities, dysmorphic features and developmental delay. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

P.221 Improvement in respiratory and bulbar function in two patients with SMALED2B

Pathogenic variants in <i>BICD2</i> are implicated in lower extremity predominant spinal muscular atrophy type 2B (SMALED2B). Here we report two patients with SMALED2B due to <i>de novo</i> pathogenic variants in <i>BICD2</i>. The first patient had poor fetal movement. She was born full term and noted to have arthrogryposis, low birth weight, dysmorphic features, bilateral femur fractures and hip dislocations, congenital vertical talus and scoliosis. Electrodiagnostic studies showed chronic axonal motor neuropathy. A muscle biopsy of the gastrocnemius showed extensive fibrofatty replacement. Electron microscopy of the sural nerve showed axonal degeneration and regeneration. Brain MRI showed mild cerebellar atrophy, enlargement of the frontal horns, and reduced size of the optic nerves and chiasm. Additional features included intellectual disability, kyphosis, tremors, choreiform movements and exotropia. Whole exome sequencing (WES) revealed a c.2080C>T variant in <i>BICD2</i>. The second patient had arthrogryposis and polyhydramnios identified prenatally. He was born at 33 weeks and noted to have micrognathia, a large anterior fontanelle and bilateral femur fractures. Electrodiagnostic studies showed low compound muscle action potential amplitudes, likely due to diffuse muscle hypoplasia. MRI of musculature and brain showed near complete absence of skeletal muscles in the extremities and bifrontal white matter volume loss. Additional features included intellectual disability, facial weakness, ptosis, bilateral undescended testes, conductive hearing loss and scoliosis. WES identified a c.1636_1638del variant in <i>BICD2</i>. Both patients had gastrostomy and tracheostomy placement shortly after birth. Patient 1 is now 20 years old. She now only requires nocturnal BiPAP and feeds orally with supplementation via gastrojejunostomy tube. Patient 2 is 7 years old and has not required assisted ventilation since he was 5, but is still fed via gastrostomy. Despite severe <i>in utero</i> presentations, these patients demonstrate that the long-term clinical course for patients with SMALED2B may be more favorable than previously reported.

Complete Androgen Insensitivity Syndrome

Androgen receptor gene mutations on Xq12, which also have a 46XY karyotype abnormality, are the root cause of the X-linked uncommon recessive disorder of sex development known as androgen insensitivity syndrome (AIS). Complete AIS existed as a female, with normal breast, no uterus, ovaries, and fallopian tube with a blind-ending vagina but the presence of bilateral undescended testis either in the inguinal canal, abdomen, or labioscrotal junction and elevated testosterone levels. This was a rare case of a 22-year-old female patient who presented with primary amenorrhea. Ultrasonography showed gonads in the mid parts of inguinal canals on both sides, reaching up to the superficial ring. On investigation, increased in level of serum testosterone, follicle-stimulating hormone along with the luteinizing hormone was seen. AIS is actually very disturbing to individuals and families, so close collaboration between radiologist, pathologist, treating consultants, and psychiatrists are required for the proper management.

426 Conservative Management of Bilateral Undescended Testes in an Adult

Abstract Bilateral undescended testes are an uncommon finding in children and even a rarer phenomenon in adults. Undescent of the testes (UDT) has important consequences on fertility, testicular injury, hormonal concerns, testicular torsion, and testicular cancer risk, as well as psychological health. We present the case of a then 21-year-old native caucasian who was referred to the urology clinic with an ‘empty scrotum’ in 2009. On examination, he had secondary sexual characteristics with expected pubertal transformation. Testes were palpated as small smooth ovoid masses in each groin with the inability to be reduced into the scrotum. The basic hormonal screen was within the normal range. Ultrasound of the scrotum and groins identified testes in the left and right inguinal canal, respectively. Semen analysis showed azoospermia. Treatment wise no pharmacological therapies were warranted in view of normal hormonal function. The patient opted for conservative options for fertility in view of likely low success rates in atrophic testes including sperm extraction techniques After detailed discussions around the dilemmas of Bilateral UDT, a decision for a tailored surveillance regimen including ultrasound and self-examination was taken. Psychological counselling was declined by the patient as felt unwarranted. He continues to remain well in himself to date with his wife and adopted children. Greater awareness of testicular self-examination amongst young men should be advocated. With established neonatal screening availability, UDT in adults is seldom heard of but it is a primary risk factor for testicular cancer. Proper counselling advice and prosthesis should be offered proactively.

A rare case of pregnancy in a patient with Prune belly syndrome

Prune belly syndrome (PBS) is a congenital syndrome with three main features: abdominal wall dysplasia, urinary tract abnormalities, and bilateral undescended testes. The majority of reported patients are boys, ith only a few reported girls. Moreover, only one case of PBS in pregnancy has been reported in the literature. In this report, we describe the management of pregnancy in a woman who had fetal hydrops and abdominal wall dysplasia after birth and was diagnosed with PBS. The patient had no abnormal urinary tract morphology; however, magnetic resonance imaging showed thinning of the rectus abdominis and oblique abdominal muscles. Due to the possibility of the prolongedecond stage of labor caused by the inability to obtain effective contraction spontaneous vaginal delivery, we chose to perform cesarean section. The patient went into labor at 35 weeks and 2 days and gave birth to a baby weighing 2370 g. We suggest that understanding the pathophysiology of abdominal wall dysplasia, such as in PBS, can lead to a safe pregnancy and delivery.

Clinical Presentation, Diagnostic Approach, Laparoscopic Evaluation and Treatment of Impalpable Testis.

To find out the clinical presentation, utility of ultrasound for diagnosis, laparoscopic findings and treatment for clinically impalpable testis. Cross-sectional study. Department of Paediatric Surgery, National Institute of Child Health, Jinnah Sindh Medical University Karachi, from September 2019 to April 2020. Patients with clinically impalpable testis were included. Ultrasound of inguinal region was done to locate testis. Presence of testis and its position was confirmed at laparoscopy and surgical procedure done according to the findings. Data was stratified according to the age and Chi-square test and Student t-test were applied to find out statistical significance among different variables in children below and above five years of age. A p <0.05 was taken as significant. Ninety-one patients with 113 testes were included. The median age of the children was 48 months. Sixty-nine (75.8%) patients had unilateral undescended testis and 22 (24.2%) bilateral undescended testes. Fifty-three (58.2%) patients were less than five years of age. On ultrasound, testis was found near deep ring in 23 (25.3%) patients. At laparoscopy, 74 (81.3%) testes were found within the abdominal cavity. In 7 (7.7%) patients, only nubbin of tissue was identified and removed. The first stage of Fowler Stephen procedure was done in the majority of the patients. There was statistically no significant difference following stratification in relation to laterality and position of undescended testis (p = 0.556 and p = 0.846, respectively). However, mean size of the testis was found statistically significant (p = 0.032). Most of the patients were above five years of age. Ultrasound helped in identifying low-lying intra-abdominal testis in more than 80% of patients. Laparoscopy was helpful in further defining the position of the testis and selection of surgical procedure. Undescended testis, Cryptorchidism, Laparoscopy, Orchiopexy.

Effectiveness of Hormonal Therapy for unilateral and bilateral Undescended testis

Effectiveness of Hormonal Therapy for unilateral and bilateral Undescended testis

A Case of Persistent Hypoglycemia with Disorder of Sex Development

A Case of Persistent Hypoglycemia with Disorder of Sex Development

Laparoscopic Management of Undescended Testis: Results and Outcomes in a Pediatric Population

Aim: This study aimed to evaluate the results of the laparoscopic treatment of high and intra-abdominal undescended testes. Methods: A retrospective study was carried out from 2014 to 2021 at the Centre medico-chirugicale d’urologie in Douala. We consulted the clinical records of 27 patients aged 6 - 15 years who underwent laparoscopic orchiopexy at our hospital. We included patients with unilateral or bilateral undescended testes as detected by palpation and excluded patients with incomplete clinical records. The data collected were entered into Microsoft Excel 2016 and exported to Epi info 7 for analysis. Continuous variables were presented as mean values and standard deviations while categorical variables were presented as frequencies and percentages. The threshold for statistical significance was set at p Results: The ages of the 27 participants ranged from 6 years to 15 years, with a mean age of 10.22 ± 2.68 years. Hypospadias was an associated abnormality in 7.41% of participants. The mean duration of the surgical procedure was 80.56 ± 30.30 minutes. The overall success rate of the laparoscopic procedure was 95.83%. The mean duration of postoperative hospital stay was 26.67 ± 7.69 hours. The only postoperative complication we encountered was testicular atrophy, which occurred in 7.41% of participants. All our patients underwent single-stage laparoscopic procedures. Conclusion: Laparoscopy, which is the technique of choice for the diagnosis and management of undescended testis, is more rapid, more effective, and characterized by a shorter hospital stay and fewer postoperative complications compared to open surgery. Single-stage procedures are as effective and safe as two-stage procedures.

A Rare Case of Prostatic Utricle with Crossover Vas Deferens in Children

Background: A prostatic utricle (PU) is an unusual pathology with most patients being asymptomatic. However, approximately 29% of patients may show lower urinary tract symptoms, recurrent urinary tract infections (UTI), postvoid dribbling, urethral discharge, epididymo-orchitis, stones, and secondary incontinence caused by urine trapping in the pouch and urinary retention. The standard treatment is through surgical resection, but it is only offered to patients with symptoms. Case summary: We report a case involving a six-year-old boy with congenital hypothyroidism and penoscrotal hypospadias who had previously undergone onlay urethroplasty for the proximal shaft, chordee release, orchidopexy for bilateral undescended testis, and laparoscopic herniorrhaphy for left inguinal hernia. However, the patient later evolved the repetition of UTI and right epididymo-orchitis. Cyclic voiding cystourethrography confirmed the presence of a cystic lesion communicating with the prostatic urethra from the utricle. The PU was then excised laparoscopically. The utricle was identified posterior to the bladder, and insertions of the vas deferens crossover into the utricle were detected by laparoscopy. The post-procedure course was uneventful. Conclusions: Laparoscopic resection of PUs offers a better exposure field, improved wound appearance, complete resection, and reduces the incidence of complications. During laparoscopy, the PU was clearly distinguished from the bladder or other pelvic organs. An incidental finding of vas deferens crossover has rarely been reported. A combined cystoscopy and laparoscopy for PU resection is executable, safe, and valid in this patient population.

This Month in Pediatric Urology

You have accessJournal of UrologyThis Month in Pediatric Urology1 Mar 2022This Month in Pediatric Urology Julian Wan Julian WanJulian Wan More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002383AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail Malignancy Yield of Testis Pathology in Older Boys and Adolescents with Cryptorchidism Patients with undescended testicles are typically operated on early in life. This is done to help maximize future fertility. Intervention also brings the testicles into a position where self-examination can be done. Cryptorchid males are known to have a markedly increased risk of malignancy. This risk appears to be related to age at intervention. Postpubertal intervention appears to double the risk as compared to prepubertal treatment. These concerns can lead to orchiectomy being chosen over orchiopexy for older males presenting with cryptorchidism. Xu et al (page 694) from Boston, Massachusetts look at this question in a single-institution retrospective review of pathology reports.1 Excluding patients with differences of sexual development, they compared the malignancy rates and types between intra-abdominal testicles and all other undescended testicles. With a median age of intervention of 15 years, 12.5% of the intra-abdominal testicles had a malignancy, whereas none of the other undescended testicles had a malignancy. The results suggest that for adolescents and peripubertal boys, late presentation of an inguinal testicle may not necessarily lead to orchiectomy. There are limitations that should be considered by the reader. The design of the study introduces sampling bias because pathology specimens are only available in those patients who underwent orchiectomy or had sampling, an action that is itself uncommon. The study also does not distinguish between patients who present with an undescended testicle from birth and those with ascended testicles. An ascended testicle would probably not have the same malignancy risk. Low Serum Inhibin B/FSH and AMH/FSH Ratios of Markers of Decreased Germ Cells in Infants with Bilateral Cryptorchidism As noted above, intervention for cryptorchidism occurs usually early on with the hopes of improving future fertility outcomes after puberty. While early intervention can help, are there other markers that can assist in predicting the risk of infertility in individual patients, particularly boys with bilateral cryptorchidism? Kato et al (page 701) from Japan look at the pre-treatment testicular position, serum hormone levels and the mean number of germ cells per tubule on transverse section in a retrospective study drawing data from over 300 boys who underwent orchiopexy from 2014 to 2019.2 All boys aged 9 years or older were excluded. Testicular biopsies were obtained from each cryptorchid patient at the time of orchiopexy. They found that patients with bilateral undescended testicles had significantly lower serum inhibin B and germ cell per tubule values. The ratios of inhibin B to FSH (follicle-stimulating hormone) levels and AMH (anti-Müllerian hormone) to FSH levels were found to be positively correlated with germ cell per tubule count in boys with bilateral cryptorchidism. For boys with unilateral cryptorchidism, these ratios did not offer any prognostic help. The key limitation of this study is that actual sperm counts and paternity rates are not available. While it may not immediately affect how we manage patients with undescended testicles, the paper suggests directions for further investigations on how to predict the long-term fertility benefits in individual patients.

A Novel KMT2D mutation in Kabuki syndrome with elevated liver enzymes and congenital bilateral hip dislocation

Kabuki syndrome (KS) is a rare syndrome that involves defects in a wide range of organs, with each organ showing a different severity of symptoms. Two genes have been associated with patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-specific methyltransferase 2D (KMT2D). The study reported the case of an 18-month-old Turkish boy diagnosed with KS. The patient showed a typical appearance: widely separated eyes, sparse eyebrows, long palpebral fissures, blue sclera, large prominent ears, and micrognathia. The patient was operated on because of bilateral hip dislocation and undescended testicles. He was also followed up by pediatric gastroenterology with asymptomatic liver enzyme elevation (AST- 79 U/L, ALT -68 U/L, ALP -52 U/L). The whole exome sequencing analysis revealed a novel pathogenic c.13285 C&gt;T (p.Gln4429Ter) mutation in the KMT2D gene. The genotype-phenotype correlation of KS was not precisely established. As per our knowledge, there is limited literature which gives information about the hepato-biliary manifestations of KS. Here, we propose that the new mutation of the KMT2D gene may result in the typical facial features of KS with asymptomatic elevated liver enzymes.

Experience in Surgical Management for Persons with Hemophilia a and with Inhibitors in Western Kenya

Introduction:Persons with hemophilia (PWH) who develop need for surgery usually require a huge amount of clotting factor concentrate (CFC) infusion to manage their bleeding during the procedure and up to a few days or weeks afterwards until they achieve tissue healing. Managing such patients in a resource limited setting (RLS) is challenging endeavor due to limited availability of clotting factor concentrates to replace their specific deficient clotting factor. The peri-operative treatment for PWH who have antibodies against CFC is even more complicated because by-passing agents (BPA) remain largely unavailable and require more frequent administration. Health care institutions in most RLS depend on limited donations of these products and therefore surgical procedures performed require intricate planning to enable the use of the minimum required CFC or BPA to achieve optimal hemostasis. We sought to highlight our experience in managing patients with Hemophilia A who have antibodies against CFC who presented with need for surgery at Moi Teaching and Referral Hospital in western Kenya.Methods:We reviewed patients charts of PWH A who presented at MTRH for surgery between 2020 and 2021 and documented their factor levels, blood counts and inhibitor levels. Three PWH A had high responding inhibitor levels. The clotting factor concentrates (CFC) used were a combination of activated Prothrombin Complex Concentrates (aPCC) and recombinant Activated Factor VII (rFVIIa) with Antifibrinolytics to achieve hemostasis. Hemostasis was monitored by the patients' hemoglobin levels (Hb) in grams per deciliter (g/dl), clinical examinations of the surgical sites and patients reported symptoms.Results:Case 1: 42-year-old with severe hemophilia A and inhibitor of 143BU, presented with femur fracture needed fixation with platting. Surgery was done one year after the injury because of unavailability of adequate bypassing agents during the time of injury. Day 1-7 of surgery, patient was given rFVIIa 270mcg/kg 6hourly with Tranexamic acid, then reduced at 180mcg/kg 6hourly on days 8-9 post surgery. He was then switched to aPCC 100IU/kg first dose then at 75IU/kg 12hourly on days 10-14, then at 75IU/kg 24hourly days 15-17. Tranexamic acid was stopped before infusion of aPCC. Just after the surgery, was transfused two units of blood. He was started physiotherapy day 14 post-operation. Patient pre-operative Hb was at 17.6g/dl, the Hb post-operation remained stable between 15g/dl and 12g/dl. There was some blood oozing noted during the first change of dressing but site remained clean and dry with reduction of limb swellings by 3cm.Case 2 : 8-year-old with severe hemophilia A and inhibitor of 6BU, had bilateral undescended testis needed bilateral orchidopexy and circumcision. The surgery proceeded after 2 months of the schedule. He was given rFVIIa at 180mcg/kg 6hourly on Day 1 and 2 of surgery with Tranexamic Acid 8 hourly. On the evening of day 2 post surgery, he was switched to aPCC at 100IU/kg 24hourly to day 4 post surgery. He continued with Tranexamic acid 6 hourly, given 6 hours after aPCC infusions. Patients Hb remained stable at 13g/dl pre and postoperatively with no noted bleeding at the surgical sites.Case 3: 3year old with moderate hemophilia A, presented with extensive subdural hematoma causing midline shift and loss of speech, needed emergency surgery. Burr hole was done with factor replacement then noted to have inhibitor of 6BU a days after the surgery. He was immediately given aPCC at 100IU/kg 12hourly for 10 days. His Hb remained stable at 10-9g/dl pre- and post-operatively with dry surgical site. Revaluation head Computerized tomography (CT) scan showed resolving hematoma with no midline shift.Conclusion:All the patient had adequate hemostasis during the surgery period with only the first case needing blood transfusion. There were no reported bleeding complications or thrombosis seen post-surgery and on follow up reviews. Despite the challenges faced it was possible to achieve adequate hemostasis needed for the surgical interventions using moderate doses of BPA, attesting to the potential that RLS are capable in managing hemophilia patients with inhibitors. We recommend further studies on the minimal dosing recommendations of BPA needed to achieve adequate hemostasis in surgical management of hemophilia patients with inhibitors in resources constrained environments. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

Referral patterns for undescended testis: A 7 year comparative analysis of primary care providers

Cryptorchidism, or undescended testis (UDT), is identified in 1% of boys by one year of age and carries long term risks of infertility and testicular neoplasia. In 2014, the American Urological Association (AUA) released a guideline statement stating that patients with UDT should be referred to a urologist by 6 months of age in order to facilitate timely surgical correction. This study is the follow-up to a 2010 study assessing referral patterns to our university center from primary care providers. In this new study, we aim to identify changes in referral patterns in response to the establishment of the 2014 AUA guidelines and to understand how our referring physicians stay abreast of current knowledge regarding UDT. A 9 question anonymous survey regarding UDT referral patterns was sent to providers who had previously referred a patient to our pediatric urology practice. The results were categorized by specialty and were compared to the similar survey from 2010. Surveys were sent to 500 physicians with 138 (27.6%) responses received. Less than half of respondents reported that they would refer a boy with unilateral or bilateral palpable UDT by 6 months of age (37.0% and 38.4% respectively). This was not significantly different than the 2010 survey (p=0.68 and 0.27 respectively). Two-thirds of physicians would refer a patient with unilateral nonpalpable UDT within the recommended time frame (68.8%); this was also unchanged from 2010 (p=0.87). There was an improvement in respondents who would refer immediately for bilateral nonpalpable testes from 49.8% in 2010 to 53.6% in 2017 (p=0.01). Residency training was most commonly cited as the primary source of knowledge regarding UDT although 89.3% of respondents citing this were >5 years removed from residency training. Delayed referral patterns were reported by the majority of providers for palpable UDT and by greater than one-third of providers for nonpalpable UDT. There was minimal change in referral patterns between 2010 and 2017 despite the release of the AUA cryptorchidism guidelines in 2014. In both 2010 and 2017, residency training was identified as the primary source of knowledge regarding management of UDT. These findings suggest an unmet need for education regarding contemporary management of UDT for the primary care physicians in our community.

Utility of Laparoscopic Approach of Orchiopexy for Palpable Cryptorchidism: A Systematic Review and Meta-Analysis.

Background: Traditional open orchiopexy is still a standard of treatment for palpable undescended testicles. Recently several authors reported successful results using a laparoscopic approach in the treatment of palpable cryptorchidism. The present systematic review and meta-analysis investigated the utility of laparoscopic orchiopexy for palpable cryptorchidism. Methods: Scientific databases (PubMed, Scopus, Web of Science, and EMBASE) were systematically searched for relevant articles using the following terms: (palpable cryptorchidism or palpable undescended testes) AND (laparoscopic orchiopexy or laparoscopic orchiopexy). The inclusion criteria were all children with unilateral or bilateral palpable undescended testes who underwent laparoscopic orchiopexy (LO) compared to children who underwent conventional open orchiopexy (CO). The main outcomes were the proportion of children requiring redo-orchiopexy and the incidence of postoperative complications. Secondary outcomes were duration and the cost of surgery. Results: The final meta-analysis included five studies involving 705 children; LO, n = 369 (52.3%) and CO, n = 336 (47.7%). The majority of the included patients had unilateral palpable cryptorchidism. No significant differences were found in regard to average age at the time of surgery and follow-up periods between the investigated groups. No statistically significant differences were found in regard to redo-orchiopexy rates (RR = 0.22, 95% CI 0.03–1.88, p = 0.17), early complications (RR = 0.66, 95% CI 0.21–2.08, p = 0.48) and incidence of testicular atrophy (RR = 0.36, 95% CI 0.03–3.88, p = 0.40). No significant differences in the operative duration were observed among the groups. Laparoscopy was associated with higher costs in most of the studies. Conclusion: LO is safe and effective in children with palpable cryptorchidism. The rates of redo-orchiopexy as well as an incidence of early complications and testicular atrophy rates are comparable to CO.

SEMINOMA ARISING FROM TESTICULAR AND OVARIAN REMNANTS HERALDS THE EMERGENCE OF A RARE MALE OVOTESTICULAR DISORDER OF SEXUAL DEVELOPMENT

INTRODUCTIONOvotesticular Disorder of Sex Development (OT DSD) or true hermaphroditism is a very rare subset of DSD and accounts for only 5% of cases. It has great phenotypic variability and poses diagnostic challenge to clinicians. It usually presents in childhood with ambiguous genitalia, characterized by histologic demonstration of ovarian and testicular tissues within the same individual. RESULTSWe describe a 22-year-old man with OT DSD complicated by seminoma. He was delivered preterm with ambiguous genitalia and was lost to follow-up. He was raised as a female, at 14 years old, his teachers referred him due to concerns of male phenotype while participating in competitive sports. Phenotypically, he was a developed male with a micropenis, hypospadia, left scrotal cystic structure and empty right scrotum. Chromosomal analysis revealed 46XY and presence of SRY gene. Radiological imaging at age 16 showed fully developed Mullerian structures, with a single cervix and incomplete septate uterus, and an oval structure suggestive of testes at the left hemipelvis. Cysto-genitoscopy demonstrated normal urethra without prostatic urethra, opening at posterodistal bladder neck with blood clots likely representing the vagina. Laparoscopy identified tubulo-nodular structure inside the pelvis suggestive of vas deferens with suspicious early malignant changes. Wolffian remnant and bicornuate uterus were present with a right Fallopian tube with suspicious hydro-corpus. He was advised surgery, however, he defaulted again. He consulted again at age 22 due to pyuria, suprapubic pain and painless cyclical haematuria. Imaging studies demonstrated pyometra, bulky left ovary and bilateral undescended testes suspicious of malignant transformation. Exploratory laparotomy, gonadectomy, subtotal hysterectomy and left orchidectomy were performed. Histopathological examination revealed seminomas arising from testicular and ovarian remnants with suppurative inflammation in the uterus. He was provided testosterone replacement post operatively, and received chemotherapy (etoposide, bleomycin and platinum). CONCLUSIONThe complexity of the case exemplified the pivotal role of multidisciplinary input from various specialties.

Early Experience with Laparoscopic Surgery for Undescended Testis at a Tertiary Hospital in Ibadan (2015-2019)

Background: Undescended testis (UDT) is of concern to the patient. If not treated may be complicated by trauma, torsion, male sub-fertility, and testicular cancer. In Nigeria it is commonly treated by open orchidopexy or orchidectomy. We report our experience with the laparoscopic management of undescended testes in the Western part of Nigeria.&#x0D; Methodology: The aim of this study was to report our early experience with the laparoscopic treatment of undescended testis in our centre. The study was conducted between January 2015 and December 2019. The data studied were age, unilateral or bilateral UDT, operation performed, pre-and intra-operative findings, operation time, and the outcome. The data were represented in tables and with operative pictures. Ethical clearance was obtained.&#x0D; Results: A total 12 patients were treated which consisted of 7 children and 5 adults with a mean age of 11 (6-17) years and 35.2 (29-42) years respectively. Preoperatively, 9 patients had transperitoneal laparoscopic orchidopexy, orchidectomy or varicocelectomy. The laparoscopic findings were peeping testis (5), intraabdominal testis (8), intracanalicular (5), and one absent testis. All the post-orchidopexy testes remained in the scrotum at 18 months of follow up. In the adults, there was improvement in the semen parameters in 2 men while 3 had persistent azoospermia.&#x0D; Conclusion: In our setting, laparoscopy for undescended testis is feasible, safe, diagnostic, and therapeutic. In infertile men with undescended testis and unilateral varicocele, laparoscopic varicocelectomy results in improved semen quality.

Rare case of simultaneous bilateral testicular torsion in inguinal canal: A case report

Background: Simultaneous bilateral testicular torsion in inguinal canal is a very rare condition which mandates prompt surgical intervention. Case Report: We report a case of an adolescent male presenting with complaint of severe pain in left inguinal region. Diagnosis of bilateral testicular torsion with bilateral undescended testes was made clinically and supported by Doppler study. This was followed by emergent surgical exploration requiring left orchiectomy and right orchiopexy. Conclusion: A high index of suspicion is required in any patient presenting with lower abdominal or groin pain and an empty scrotum to clinch the diagnosis and act promptly in an effort to salvage the testes. We believe, irrespective of the time elapsed since the onset of symptoms, surgical intervention should be undertaken as spontaneous torsion and detorsion might be happening, enabling testicular salvage.

The fat anchor orchiopexy technique: results and outcomes from 150 cases surgical experience

PurposeThe purpose of the study is to evaluate results and outcomes in a long-time follow-up period, by performing a novel testicular fixation procedure, known as “fat anchor orchidopexy” (FAO), for the treatment of palpable low inguinal undescended testis.Materials and methodsWe retrospectively reviewed all patients who underwent scrotal orchiopexy technique, from May 2013 to May 2019, at the Pediatric Surgery Division of Department of Surgical Pathology, University of Pisa (Italy). FAO (Spinelli’s technique) consists in anchoring the testicles to sub-scrotal fat with a single trans-scrotal incision. All the patients enrolled had history of unilateral or bilateral undescended testis. Data collected included patient’s age, operative times and complications.ResultsA total of 150 children with cryptorchidism were treated using a single trans-scrotal orchiopexy. Of them, 130 patients (86.7%) had unilateral undescended testis and 20 (13.3%) bilateral cryptorchidism. Mean patient’s age was 21 months (range: 14–28 months). All the procedures were planned in a day-surgery setting. Trans-scrotal orchiopexy was successful in all cases and no patients required an additional groin incision. No intraoperatively and postoperatively major complications were observed. Patients’ post-operative pain was mild (mean pediatric visual analog scale = 2). In all cases, the healing process was rapid and no surgical wounds infections were reported during the post-operative period, referring excellent cosmesis results. During a mean 48-month follow-up period, no testicular retraction, recurrence or testis atrophy was reported.ConclusionThe original Spinelli’s technique (FAO) proves to be a safe and effective method for the treatment of palpable or distal-to-external-inguinal-ring testes. No immediate and delayed post-surgery complications were reported. In all cases, the anchored testicle remained in the scrotal position with normal vascularization. This novel surgical technique could give better options for scrotal fixation in case of low-lying cryptorchid testes.

Persistent Mullerian duct syndrome and bilateral cryptorchidism

persistent Müllerian duct syndrome (PMDS) is a rare condition occasionally encountered in men with normal phenotype but with influencing internal sexual male development. This disorder is characterized by the presence of female reproductive structures such as cervix, fallopian tubes, uterus and upper part of vagina in normal males. PMSD is commonly diagnosed incidentally after testis examination for cryptorchidism or during any pelvic surgery. We report a case of PMDS along bilateral cryptorchidism that present with acute abdomen. A 16-year-old boys presented with abdominal pain and history of appendectomy one month ago and reoperation with collection diagnosis. In examination bilateral undescended testis (UDT) was discovered. An abdominal and pelvis CT scan with and without intravenous and oral of contrast material was performed, which showed a blind-ending, fluid-filled tubular structure arising just posterior to the prostate and extending into the both sides of the urinary bladder. Total excision of the uterus and bilateral fallopian tubes was performed. The patient was prepared for orchidopexy at another time. PMDS is a challenging condition to diagnose. Isolated UDT is the main presenting features of PMDS. Malignant transformation of the testis is the main risk facing those patients. Recent studies have also suggested the possibility of malignancy of PMDS components. Though it is rare, every surgeon should be fully prepared to manage this anomaly especially when operating upon UDT or cryptorchidism.