Exploring uncharted territory: A case report on de la Chapelle syndrome presenting as male subfertility.

INTRODUCTION: De la Chapelle Syndrome, also known as 46 XX disorders, is a genetic condition that affects sexual development and presents challenges, in physical, hormonal, and genetic aspects. CASE PRESENTATION: This case study explores a 42-year man with de la Chapelle Syndrome who experienced primary subfertility for eight years. The patient demonstrated delayed development of secondary sexual characteristics, shrinking testes and sparse hair distribution. A team comprising fertility specialists, uro surgeons, endocrinologists and genetic counselors collaborated to develop an approach. Based on the patients 46 XX karyotype without sex-determining region Y gene mutation assisted reproduction using donor sperm was chosen as the option. The report delves into the genetics of both sex-determining region Y gene positive and sex-determining region Y gene negative cases while emphasizing the significance of conducting thorough evaluations for issues related to sexual differentiation. DISCUSSION: Management strategies encompass an approach tailored to factors such as age, fertility desires and level of virilization exhibited by the patient. Surgical interventions, hormone treatments and psychological support all play roles in the management. Limited fertility treatment options are available for cases involving XX syndrome with testes such as intrauterine insemination using donor sperm and assisted reproduction with donor sperm. This case underscores the difficulties associated with delayed diagnosis. CONCLUSION: Highlights the importance of adopting an approach that addresses fertility concerns along with endocrine issues and psychological support when managing de la Chapelle Syndrome.

Unusual discovery: Incidental diagnosis of adrenal myelolipoma, initially confused with liposarcoma, following bee sting bite, resolving chronic right hypochondrial discomfort - A case report.

INTRODUCTION AND IMPORTANCE: Adrenal myelolipomas are uncommon benign tumors of the adrenal gland. It has various other sites of origin. CASE PRESENTATION: A 51-year-old male with elevated serum creatinine and an incidentally discovered adrenal mass underwent right adrenalectomy for an adrenal myelolipoma, a benign tumor with fat and haematopoietic components after bee string bite. As the patient was experiencing right hypochondrial pain surgery was planned. After surgery, he developed a surgical site infection, which was treated with antibiotics, and his wound healed well. Excision biopsy confirmed the non-malignant nature of the tumor. CLINICAL DISCUSSION: Adrenal myelolipomas are often unilateral, non-functional, and diagnosed using imaging (CT/MRI). While radiological findings can be specific, inconclusive cases may require biopsy for confirmation. Surgical intervention is reserved for hormonally active, symptomatic, or rapidly growing myelolipomas, particularly if they exceed 5 cm. CONCLUSION: Adrenal myelolipomas are common in adrenal glands, typically diagnosed in midlife with no gender bias. Imaging, especially CT, is effective in detecting fat components. In cases of diagnostic uncertainty, fine needle biopsy is crucial for confirmation, and surgery is considered when tumors are hormonally active, grow substantially, or cause symptoms, highlighting personalized care based on patient and imaging data.

Management of Renal Malignancies in Von Hippel-Lindau Syndrome: Lessons Learned from a Series of Six Patients from Sri Lanka.

Management of renal malignancies in Von Hippel-Lindau (VHL) is challenging. We present six patients [mean age = 35.1 years (range: 24-54), males = 5] with VHL syndrome with multiple bilateral renal malignancies and the lessons learned during their management. The number of tumors at the time of presentation ranged from 1 to 6, while the number of new lesions varied from 1 to 3. Different combinations of radical nephrectomy (n = 2), partial nephrectomy (n = 7), and focal therapy (n = 6) were used appropriately. Median follow-up was 36 months (range: 12-72). Two patients developed new lesions which were managed with focal therapy. Nephron-sparing approaches are successful even in bilateral, multifocal, large, and recurring renal tumors associated with VHL. Awareness about the availability of efficacious surgical and minimally invasive measures would reduce psychosocial problems faced by patients and their families due to the social stigma associated with malignancies running in a family and burden of renal replacement therapy.

Minimal invasive management of generalized peritonitis as a result of spontaneous ureteral rupture.

INTRODUCTION AND IMPORTANCE: Generalized peritonitis following proximal ureteral rupture is a very rare complication. This is about a successfully managed case without open surgical intervention. CASE PRESENTATION: A lady in her 70s presented with generalized abdominal pain, high spiking fever and low urine output for 3 days. She was haemodynamically unstable on admission and was resuscitated and managed at intensive care unit. CECT abdomen revealed partial anterior ureteral rupture with pyonephrosis. She was managed with percutaneous nephrostomy and subsequent anterograde stenting. Her recovery was uneventful and follow up imaging revealed no features of malignancy. CLINICAL DISCUSSION: Generalized peritonitis due to renal pathology is very rare and it can be due to urolithiasis or neoplasm. Retroperitoneal infections may lead to irritation of peritoneum or fistulation into the peritoneum leading to generalized peritonitis. This can be managed by various surgical and non-surgical management modalities. CONCLUSION: There are various pathological causes for acute abdomen. One of the rare causes is spontaneous rupture of ureter in pyonephrotic kidney which can also be managed successfully with minimal intervention.

Inflammatory myofibroblastic tumour: case report of a rare form of bladder tumour.

INTRODUCTION AND IMPORTANCE: Inflammatory myofibroblastic tumour (IMT) is a rare tumour with malignant potential and has been described in many major organs with the most frequent site being the lungs. However, bladder is an extremely rare location. IMT presents a unique diagnostic challenge because of the characteristics it shares with malignant neoplasms. CASE PRESENTATION: Here we report the case of a 47-yearold male who presented with storage lower urinary tract symptoms associated with non-specific lower abdominal pain for one month duration. Contrast-enhanced computed tomography of abdomen and pelvis revealed a 6 cm tumour at the dome and left side anterior wall of the bladder. He underwent laparotomy and partial cystectomy. Histopathology results were consistent with an IMT. CLINICAL DISCUSSION: Even though bladder IMT is indolent in course, typical IMTs can be locally aggressive. Due to the lack of specificity in clinical symptoms, it is not easy to arrive at a precise diagnosis before surgery. Hence, the final diagnosis depends on histomorphological features and the immune histochemical profile. CONCLUSION: It can be challenging to distinguish IMT from malignant neoplasms both clinically and histologically. As such, local surgical resection with close follow-up remains the mainstay of treatment for urinary tract IMT.

Clinicopathological characteristics and oncological outcomes of patients with renal cell carcinoma.

ABSTRACT: Although certain characteristics of renal cell carcinoma (RCC) seen in Sri lanka are different to the developed world and incidence is rising, no data on oncological outcome and patient survival are avaialble. A hospital-based cohort study was done in a tertiary referral centre over a period of eight years (2012-2019). A total of 285 newly diagnosed RCC had a mean follow-up period of 28.3 months. Radical nephrectomy was performed in 189 patients while 91 patients had partial nephrectomy. Clear cell RCC which was seen in 231 (81.1%) patients while papillary RCC was seen in 43 (15.1%). There were 54 deaths during the follow-up. The 30-day postoperative mortality was 2.1%. Thirty (10.5%) patients developed metastases while three patients developed local recurrences. The overall five -year survival rate was 72.8% (95%CI=65.9-80.5). Five-year survival of papillary RCC (60.5%) was lower than clear cell RCC (74.1%). Tumour stage, presence of metastases and histological grade of the tumour influenced the survival. Gender (p= 0.3), histological type (p= 0.5) or type of surgery (p=0.2) had no statistically significant effect on survival.

Risk factors of renal cell carcinoma in a cohort of Sri Lankan patients: A case-control study.

BACKGROUND: Associated risk factors for renal cell carcinoma (RCC) include smoking, obesity, hypertension, and diabetes mellitus (DM). Studies on their role in Sri Lankan patients are sparse. The aims were to determine the risk factors for RCC in a cohort of Sri Lankan patients. METHODS: A hospital-based case-control study was done in a teaching hospital from January 1, 2009, to December 31, 2015. The prospectively collected data included history of smoking, hypertension, DM, and body mass index (BMI). The controls were patients who were admitted after trauma and who required abdominal ultrasonography as part of routine assessment. The controls were accrued at a ratio of 1:2 and were age- and gender-matched. Chi-squared test was used, and P < 0.05 was considered statistically significant. RESULTS: There were 178 patients with RCC. The mean age of patients with RCC was 56.9 years. Male to female ratio was 3.5:1. Forty-nine (27.5%) patients were < 50-year-old. 36.5% were asymptomatic and diagnosed incidentally by ultrasound scanning. Obesity (BMI > 30) (P < 0.01), DM (P < 0.05), and hypertension (P < 0.01) were significantly more common among the cases than in controls. There was no difference in the prevalence of smoking between the two groups (P > 0.5). CONCLUSIONS: Average age at the time of diagnosis of RCC in Sri Lankan patients is lower than the developed world, with a large proportion of patients being under 50 years. Obesity, hypertension, and DM are associated risk factors for RCC in Sri Lankan patients while smoking is not.

Outcome of uncomplicated ureteric calculi managed with medical expulsive therapy in the outpatient clinic of a urology unit in Sri Lanka.

OBJECTIVE: Although medical expulsive therapy (MET) is shown to be effective for ureteric calculi, the optimum duration and the stone size suitable for MET are not well established yet. The objectives of the study were to determine the optimum duration and maximum stone size suitable for MET. RESULTS: All patients with radiologically confirmed uncomplicated ureteric calculi treated with MET using tamsulosin over a period of 6 months in the outpatient setting were followed up. There were 213 patients. 165 were men. Mean age was 42 years. At presentation 42 stones were in upper ureter (19.7%), 51 in mid ureter (23.9%), 120 in lower ureter (56.3%). The majority (82.7%) of stones were less than 10 mm. Seven stones (3.3%) were over 15 mm. Ninety-two (43.2%) patients had spontaneous passage of stones within 6-weeks of MET. Another 38.9% passed the stone within the next 6-weeks. Thirty-eight patients (17.8%) required surgery. Uncomplicated ureteric stones up to 10 mm can be given a trial of MET using tamsulosin which can be extended up to 12-weeks with a success rate over 92%. This may have substantial clinical and fiscal benefits by reducing the number of interventional procedures especially in resource-poor settings.

New developments in chyluria after global programs to eliminate lymphatic filariasis.

Chyluria, commonly seen in south Asian countries, is mainly a manifestation of lymphatic filariasis as a result of infestation with Wuchereria bancrofti, although many other causes can contribute. Many patients can be effectively treated with dietary modifications and drug therapy. The most widely used drug is diethyl carbamazine. The recurrences are common after such treatment. Such patients would benefit from sclerotherapy to obliterate the lympatico-renal fistulae located mainly in the renal pelvicalyceal system. The commonly used sclerosing agent is a combination of 5% povidone-iodine and 50% dextrose instilled through a ureteric catheter. A small percentage of patients who recur after sclerotherapy and those with systemic complications, such as hypoproteinemia and edema, might require surgery in the form of renal hilar lymphatic disconnection. Although it is a major operation, the success rates are >90%. Laparoscopic and robotic techniques have minimized the morbidity related to such surgery. With the advent of the global program for eradication of filariasis initiated by the World Health Organization, the incidence of the disease is decreasing. Mass chemotherapy with diethyl carbamazine is the mainstay of this global program. Many years after eliminating filariasis, chyluria continue to occur in such populations, though in dwindling numbers. Future research should aim at finding more efficacious sclerosing agents with minimal recurrences.