Disorders of sexual development: structured radiological reporting and practical approach.

Disorders of sexual development (DSD) comprise a complex group of conditions with varied clinical presentations, such as atypical genitalia, non-palpable testes, primary amenorrhea, or infertility. Besides being associated with other congenital anomalies, DSDs bear substantial ethical issues regarding assigning the sex of rearing to the child and future fertility options. Establishing the correct diagnosis is essential for the appropriate management of such cases. Various imaging modalities, such as ultrasonography, genitography, and MRI, when complemented with detailed clinical evaluation and karyotyping, are the key to diagnosing the condition. This article attempts to present a concise approach to various patterns of DSD, which will aid radiologists to solve these diagnostic dilemmas.

Electrophysiological Study in the Right Upper and Lower Limbs in Infants with Lumbosacral Meningomyelocele and in Normal Infants: A Case-control Study.

Objective: The study aimed to assess the electrophysiological parameters (Hofmann reflex [H-reflex] and motor nerve conduction velocity [MNCV]) on children's upper and lower limbs with lumbosacral meningomyelocele (MMC) and age-matched control to see the effect of the MMC on the cervical segment of the spinal cord. Materials and Methods: The present study was performed on infants with lumbosacral MMC. Twenty-five infants were examined with a mean age of 50 days of either sex. Out of them, 13 infants were in control and the remaining 12 were diagnosed with MMC. The H-reflex parameter and MNCV were recorded in these children's right upper and lower limbs. Results: H-reflex was elicited in all the control group babies. In MMC, the H-reflex was elicited in the upper limbs. However, H-reflex was not elicited in the lower limbs of a few MMC babies. The upper limb's H-reflex parameters and conduction velocity were significantly higher than those corresponding lower limbs in control babies. In MMC, where the H-reflex was elicited, such differences in the lower and upper limbs were not observed. However, the values of MNCV in the upper limb (right median nerve) were significantly less, and the values of Hmax in the lower limb (soleus muscle) were significantly more in MMC babies than in the control group. Conclusions: The values of electrophysiological parameters were higher in the upper limbs as compared to the corresponding lower limbs in control. These values were not altered in the upper limbs than those corresponding lower limbs of MMC, suggesting that motor function development was impaired/delayed in the spinal segment cranial to MMC lesion, and motor impairment in MMC children is mostly a result of upper motor neuron dysfunction.

Urinary flow rates in anterior hypospadias: Before and after repair and its clinical implication.

Context: Hypospadias is a common urological anomaly which could be surgically corrected with good cosmetic results. Aims: We aimed to detect changes in urinary flow parameters both before and after tubularised incised plate urethroplasty (TIPU) using uroflowmetry. Settings and Design: Data collected were clinically implemented hypothesising the probability of urethrocutaneous fistula following stricture with Qmax variation. Materials and Methods: This study is a prospective analysis done from December 2017 to October 2019. A total of 104 cases of anterior hypospadias were included in the study. A single surgical unit did TIPU. Pre-operative and post-operative uroflowmetry was done, and Qmax was recorded at 3 months, 6 months and 1 year after surgery. Mean Qmax was calculated for all intervals. A significant decrease in Qmax of a child (<2 standard deviation) was ascertained. Urethral calibration was done in those cases with a significant decrease of Qmax and analysed statistically. Results: The mean age was 6.97 ± 2.41 years. Out of 104 children, 73 (70.2%) and 31 (29.8%) had distal and mid-shaft hypospadias, respectively. The pre-operative mean Qmax of the population was 6.20 ± 0.42 ml/s. Arithmetic mean Qmax at 3 months, 6 months and 1 year was 8.53 ± 0.42, 11.18 ± 0.47 and 13.71 ± 0.44 ml/s, respectively. On comparing the pre-operative with post-operative mean Qmax, a significant increase was found postoperatively (P < 0.0001). Twenty-four patients had significantly decreased Qmax value after 6 months. In these patients, follow-up urethral dilation was done with significant improvement. Conclusion: The changes in maximum flow rate (Qmax) are suitable for use in routine follow-up. A significant decrease in Qmax over time indicates the onset of urethral stricture. These cases are to be intervened before venturing to redo urethroplasty.

To Determine the Genotyping of Fc-gamma Receptor FCGR2A Polymorphism as Genetic Susceptibility to Neonatal Sepsis: A Study from a Tertiary Center of North India.

Background: Neonatal sepsis term is an infection of newborns <28 days of age. It is a common cause of death in developing countries. The receptor-gamma receptor FCGR2A has been shown to be associated with neonatal sepsis. It is an activating receptor found in many cell types such as monocytes, neutrophils, macrophages, platelets, and others. The receptor has a polymorphism (single-nucleotide polymorphism rs1801274) in its gene (FCGR2A) that encodes either a histidine (H) or arginine (R) at amino acid position 131. There are many studies showing the impact of these FCGR2A polymorphisms on sepsis. Our study aims to determine the prevalence of Fc-gamma receptor FCGR2A (rs1801274) polymorphism in neonatal sepsis and control in Eastern UP populations. Patients and Methods: We conducted a cross-sectional descriptive study of 590 patients (310 healthy individuals and 280 sepsis patients) to determine polymorphisms in the CD32A coding region in neonates. All individuals were genotyped for a variant at position 131 of the FcγRIIA gene. Discussion: In our study, the prevalence of FcγRIIa polymorphism is more in neonates with sepsis than in noninfected neonates. It was observed that the heterozygous allele (AG) were significantly increased in septic neonates when compared to the normal. Conclusion: Our data indicate that FcγRIIA genotyping can be used as a marker of genetic susceptibility to sepsis.

Endoscopic Third Ventriculostomy in Infants Less than One Year of Age: A Short Series of 14 Cases.

BACKGROUND: Endoscopic third ventriculostomy (ETV) is currently considered as an alternative to cerebrospinal fluid (CSF) shunt systems in the treatment of obstructive hydrocephalus. This procedure allows the CSF to drain in the basal cisterns and reabsorbed by arachnoid granulations, and avoiding implantation of exogenous material. AIMS AND OBJECTIVES: The purpose of this study was to assess the success rate of ETV in infants less than 1 year of age with congenital noncommunicating hydrocephalus. MATERIAL AND METHODS: This study was a 2-year prospective study from August 2017 to July 2019. ETVs were performed in 14 patients younger than 1 year with diagnosis of noncommunicating hydrocephalous. A failure was defined as the need for shunt implantation after ETV. Phase-contrast MRI of the brain was done after 6 months to see patency of ETV fenestration and CSF flow through ventriculostomy. RESULTS: ETV was tried in 18 patients and successfully performed in 14 patients. Out of the 14 patients, shunt implantation after ETV was performed in 3 patients (failed ETV). In the successful cases, etiology was idiopathic aqueductal stenosis in 8, shunt complications in 2, and 1 case was a follow-up case of occipital encephalocele; the mean age was 7.7 months (range 3-12). In the 3 failed cases, etiology was aqueductal stenosis, mean age was 7.6 months (range 3-11). In all ETVs, failed patients MPVP shunting was done. Follow-up of nonshunted patients was done from 6 to 24 months (mean 15 months). There was no mortality or permanent morbidity noted following ETV. CONCLUSION: ETV is a good surgical procedure for less than 1-year-old children.

Five-year experience of anorectal malformation with oesophageal atresia in tertiary care hospital.

AIM: We had done this study for TEF with Anorectal malformation and TEF with no Anorectal malformation in terms of age, sex, surgical outcomes and mortality. MATERIALS AND METHODS: This was a retrospective review of cases with clinical data (from April 2012 to April 2017). The participants of this study were 236 patients who had been diagnosed and managed for ARM. Among these patients, 25 patients associated with EA were selected as the subject patient group. RESULTS: The incidence of tracheoesophageal fistula with ARM was 11.1%. The study has more male preponderance. All cases are of Type c except two cases of Type a. According to the classifications of ARMs, there were two cases with rectourethral fistula and eight cases with rectoperineal fistula and covered anus in the males. In females, there was a varied distribution of seven cases. There was one case (4%) presenting as a part of the Vertebral anorectal malformation cardiac tracheoesophageal renal and limb anomalies (VACTERL) association, which is the representative example of a complex anomaly. Most of the cases died due to cardiac problem and pneumonitis (due to delayed presentation). CONCLUSION: The study concludes the experience of EA (±fistulae) with ARM, their distribution, incidence and outcome of the tertiary care centre.

Role of Urinary Transforming Growth Factor Beta-B1 and Monocyte Chemotactic Protein-1 as Prognostic Biomarkers in Posterior Urethral Valve.

BACKGROUND: Posterior Urethral Valves (PUV) are the most common cause of congenital LUT obstruction in males. Biomarkers of glomerular or tubular injury may be of particular value in predicting the need for surgical intervention or in tracing progression of chronic kidney disease. Measurement of biomarker in urine is relatively easy. AIM: To evaluate the changes in values of urinary Transforming Growth Factor Beta 1(TGF-B1) and Monocyte Chemotactic Protein (MCP-1) before and after valve ablation and its prognostic value in Posterior urethral valve. MATERIAL AND METHOD: This prospective study was conducted from September 2016 to August 2018. The study group included 20 consecutive male babies with the diagnosis of PUV treated and followed up versus equal numbers of age matched control without any renal or urinary tract disease. Pre-operative urine samples were collected in Operative room. Cystoscopy and valve ablation was done. Follow up was done clinically by urinary stream and radiologically with VCUG. Follow-up was planned at 1 month, 3 months and 6 months following cystoscopic valve ablation. All collected urine samples were centrifuged at 10,000 rpm for 20 minutes. Supernatant was collected and two divided aliquots were stored at -200c to be thawed on the day of assay. Optical density of each well was recorded at 450 nm and 540 nm A p-value of <0.05 was considered to be statistically significant. RESULT AND DISCUSSION: Out of 20 cases of PUV, 14 (70%) cases were 1st born males of their family. The median age at the time of valve ablation in PUV cases was 2.5 (1.20-3.87) years.. Most common symptoms are fever and UTI. The preoperative median serum creatinine level was 1.65 mg/dl(1.22-2.42) pre-ablation, and fall significantly after ablation. Median eGFR level (calculated) was 25.635 (16.38-35.40) and after 6 months was 71.490 (45.44-96.93). Preoperative median MCP1 in PUV cases was 147.2 (82.8-512.5) and significant difference was also found in 1st, 3rd and 6th months after surgery (p<0.001, p=0.004 and p=0.002).Preoperative median TGF-B1 level was 197.8 pg/ml (79.9-386.4). There was no statistically significant change in TGF-B1 level at preoperative to 1 month and preop to 3 months after surgery but at 6 months after surgery the median TGF-B1 level significantly decreased as compared with preoperative TGF-B1 level. CONCLUSION: TGF ß1 and MCP1 can be considered as prognostic urinary biomarkers in patients of PUV and can be used to specify and counsel patient's attendant regarding possibility of ESRD and need for further intervention.

Primary hepatic pregnancy.

A 25-year-old G2P1L1 woman with 18-week pregnancy presented with right hypochondriac pain and vomiting for the past 1 week. She had borderline vitals and a diffusely tender abdomen. Ultrasound revealed a live 18-week fetus attached to the undersurface of the liver with moderate ascites. Laparotomy was carried out which revealed 500 cc of hemoperitoneum with a primary hepatic pregnancy of the right lobe of liver and bleeding from the placental site. After extracting the fetus, the placenta was left inn situ and the abdomen was packed to control the bleeding as other hemostatic measures failed. Hepatic artery embolization was done after surgery followed by relaparotomy but the abdomen had to be repacked again as the patient was unstable with uncontrollable bleeding. The patient succumbed to DIC despite adequate replacement. In retrospect, the authors conclude that embolization could have been done before surgery and partial hepatic resection attempted in the first instance.