Hexavalent chromium exposure activates the non-canonical nuclear factor kappa B pathway to promote immune checkpoint protein programmed death-ligand 1 expression and lung carcinogenesis.

Lung cancer is the leading cause of cancer-related death worldwide; however, the mechanism of lung carcinogenesis has not been clearly defined. Chronic exposure to hexavalent chromium [Cr(VI)], a common environmental and occupational pollutant, causes lung cancer, representing an important lung cancer etiology factor. The mechanism of how chronic Cr(VI) exposure causes lung cancer remains largely unknown. By using cell culture and mouse models and bioinformatics analyses of human lung cancer gene expression profiles, this study investigated the mechanism of Cr(VI)-induced lung carcinogenesis. A new mouse model of Cr(VI)-induced lung carcinogenesis was developed as evidenced by the findings showing that a 16-week Cr(VI) exposure (CaCrO4, 100 µg per mouse once per week) via oropharyngeal aspiration induced lung adenocarcinomas in male and female A/J mice, whereas none of the sham-exposed control mice had lung tumors. Mechanistic studies revealed that chronic Cr(VI) exposure activated the non-canonical NFκB pathway through the long non-coding RNA (lncRNA) ABHD11-AS1/deubiquitinase USP15-mediated tumor necrosis factor receptor-associated factor 3 (TRAF3) down-regulation. The non-canonical NFκB pathway activation increased the interleukin 6 (IL-6)/Janus kinase (Jak)/signal transducer and activator of transcription 3 (Stat3) signaling. The activation of the IL-6/Jak signaling axis by Cr(VI) exposure not only promoted inflammation but also stabilized the immune checkpoint molecule programmed death-ligand 1 (PD-L1) protein in the lungs, reducing T lymphocyte infiltration to the lungs. Given the well-recognized critical role of PD-L1 in inhibiting anti-tumor immunity, these findings suggested that the lncRNA ABHD11-AS1-mediated non-canonical NFκB pathway activation and PD-L1 up-regulation may play important roles in Cr(VI)-induced lung carcinogenesis.

Immunodeficiency Hiding in Plain Sight.

Primary immunodeficiency syndromes encompass a wide variety of inborn and acquired cellular and signaling defects. They are predominantly diagnosed during childhood but can present later into young adulthood depending on the severity, impact, and access to healthcare. Early clues to diagnosis include atypical and severe or recurrent presentations to common pathogens, vaccine failure, and immune lab abnormalities. Despite seemingly obvious characteristics, diagnosis is frequently delayed by months to years at a cost of greatly increased morbidity. Here we present a case of a challenging hyper IgM syndrome diagnosed after seven months and multiple hospitalizations for unique multisystem pathologies.

The first survey of the Saudi Acute Myocardial Infarction Registry Program: Main results and long-term outcomes (STARS-1 Program).

BACKGROUND: Prior acute coronary syndrome (ACS) registries in Saudi Arabia might not have accurately described the true demographics and cardiac care of patients with ACS. We aimed to evaluate the clinical characteristics, management, and outcomes of a representative sample of patients with acute myocardial infarction (AMI) in Saudi Arabia. METHODS: We conducted a 1-month snap-shot, prospective, multi-center registry study in 50 hospitals from various health care sectors in Saudi Arabia. We followed patients for 1 month and 1 year after hospital discharge. Patients with AMI included those with or without ST-segment elevation (STEMI or NSTEMI, respectively). This program survey will be repeated every 5 years. RESULTS: Between May 2015 and January 2017, we enrolled 2233 patients with ACS (mean age was 56 [standard deviation = 13] years; 55.6% were Saudi citizens, 85.7% were men, and 65.9% had STEMI). Coronary artery disease risk factors were high; 52.7% had diabetes mellitus and 51.2% had hypertension. Emergency Medical Services (EMS) was utilized in only 5.2% of cases. Revascularization for patients with STEMI included thrombolytic therapy (29%), primary percutaneous coronary intervention (PCI); (42.5%), neither (29%), or a pharmaco-invasive approach (3%). Non-Saudis with STEMI were less likely to undergo primary PCI compared to Saudis (35.8% vs. 48.7%; respectively, p <0.001), and women were less likely than men to achieve a door-to-balloon time of <90 min (42% vs. 65%; respectively, p = 0.003). Around half of the patients with NSTEMI did not undergo a coronary angiogram. All-cause mortality rates were 4%, 5.8%, and 8.1%, in-hospital, at 1 month, and at 1 year, respectively. These rates were significantly higher in women than in men. CONCLUSIONS: There is an urgent need for primary prevention programs, improving the EMS infrastructure and utilization, and establishing organized ACS network programs. AMI care needs further improvement, particularly for women and non-Saudis.

Comparison of Oxacillin and Cefoxitin for the Detection of mecAGene to Determine Methicillin Resistance in Coagulase Negative Staphylococci(CoNs).

The aim of the study was to compare the effectiveness of Cefoxitin with that of Methicillin/Oxacillin in the determination of mecAgene in Methicillin resistant Coagulase-negative staphylococci(CoNS). We assessed 57 CoNS isolates for mecA gene via PCR, which were subsequently subjected to Methicillin/Oxacillin and Cefoxitin disc diffusion test. These methods are simple, inexpensive and easily available compared to PCR despite less specificity. Out of 41 mecApositive species, 33 (80.5%) were resistant to Methicillin/Oxacillin. Cefoxitin-resistance was seen in all 41 (100%) mecApositive samples. Two (12.5%) mecAnegative isolates of S.saprophyticuswere Methicillin/Oxacillin resistant, but were Cefoxitin sensitive. Four (9.7%) isolates of S.saprophyticus, three (7.3%) of S.epidermidisspecies, and one (2.4%) S.haemolyticusthat were mecApositive were sensitive to Methicillin/Oxacillin but resistant to Cefoxitin. Cefoxitin resistance provides a more accurate picture of mecAgene positivity as compared to Methicillin and Oxacillin.

Detection of okadaic acid (OA) using ELISA and colloidal gold immunoassay based on monoclonal antibody.

Okadaic Acid (OA), a small seafood-borne toxin secreted by Dinophysis and Prorocentrum dinoflagellates, is generally distributed in various species of shellfish and has caused diarrhetic shellfish poisoning (DSP). In view of OA toxin threat to humans and animals, it is essential to develop a rapid, accurate and sensitive method for the detection and quantification of OA in real samples. In this study, a monoclonal antibody named 10E8 was screened by cells fusion of Sp2/0 with spleen cells isolated from immunized mouse, and the isotype of McAb 10E8 was belonged to IgG1. The resulted McAb 10E8 displayed higher specificity to OA antigen, with the highest affinity of 2.66×109L/moL until now. Indirect competitive ELISA (ic-ELISA) indicated that the linear range to detect OA was 20-750ng/mL. The limit of detection (LOD) was 12pg/mL, and the recovery average was (84.04±5.08)%. The LOD of colloidal gold immunoassay by naked eye and strip reader was 1ng/mL and 100pg/mL, respectively, with an average recovery of (88.0275±4.4225)%. Therefore, the developed ELISA and colloidal gold immunoassay based on this McAb can be used for OA detection in real samples.

Species Identification and Antibiotic Susceptibilities of Coagulase- Negative Staphylococci Isolated from Urinary Tract Infection Specimens.

OBJECTIVE: To determine the incidence of Coagulase- negative S. aureusin urinary tract infections and sensitivities of these isolates to antimicrobial agents. STUDY DESIGN: Cohort study. PLACE AND DURATION OF STUDY: Dr. Essa Laboratory and Immunology and Infectious Disease Research Laboratory (IIDRL), Microbiology Department, University of Karachi, from January 2009 to January 2010. METHODOLOGY: Urine specimens, suggestive of urinary tract infection (UTI), were identified. Speciation of isolates was done using API-20 Staph.system. Screening of extracellular products was done using SDS-PAGE electrophoresis and Hemolysin on blood-agar plates. Minimum inhibitory concentration (MICs) of antibiotics was estimated by microtiter well plate method. Frequency and percentages were determined and chi-square test was used for comparing proportions with significance at p < 0.05. RESULTS: Coagulase - negative S. aureus(CONS) were the cause of urinary tract infection in 56 out of 1866 outpatient (3%) and 164 of 1261 inpatient (13%), urinary tract infections (p < 0.001). Two hundred and twenty CONS isolates were identified. The most common CONS identified was S. saprophyticus (31%, 68 strains). The relative frequency of Coagulase - negative S. aureuswas 6% (13 strains). All isolates were sensitive to Vancomycin and Linezolid. Resistance was 69% to Ampicillin, 53% to Methicillin, and 37.5% to Ciprofloxacin. CONCLUSION: CONS are a potential uropathogens, with capability of slime production and resistance to common empirical prescriptions. This also warrants formulation of an appropriate antibiotic policy that covers CONS.

Antibiotic resistance pattern of Pseudomonas aeruginosa isolated from urine samples of Urinary Tract Infections patients in Karachi, Pakistan.

OBJECTIVE: The aim of this study was to evaluate the antibiotic resistance pattern of Psedomonas aeruginosa and its prevalence in patients with urinary tract infections (UTI) for effective treatment in a developing country like Pakistan. METHODS: This is an observational study conducted for a period of ten months which ended on December 2013 at the Dr. Essa Laboratory and Diagnostic Centre in Karachi. A total of 4668 urine samples of UTI patients were collected and standard microbiological techniques were performed to identify the organisms in urine cultures. Antibiotic susceptibility testing was performed by Kirby-Bauer technique for twenty five commonly used antimicrobials and then analyzed on SPSS version 17. RESULTS: P. aeruginosa was isolated in 254 cultures (5.4%). The most resistant drugs included Ceclor(100%) and Cefizox (100%) followed by Amoxil/Ampicillin (99.6%), Ceflixime (99.6%), Doxycycline (99.6%), Cefuroxime (99.2%), Cephradine (99.2%), Cotrimoxazole (99.2%), Nalidixic acid (98.8%), Pipemidic acid (98.6%) and Augmentin (97.6%). CONCLUSION: Emerging resistant strains of Pseudomonas aeruginosa are potentially linked to injudicious use of drugs leading to ineffective empirical therapy and in turn, appearance of even more resistant strains of the bacterium. Therefore, we recommend culture and sensitivity testing to determine the presence of P.aeruginosa prior to specific antimicrobial therapy.

Current pattern of antibiotic resistance of clinical isolates among conjunctival swabs.

OBJECTIVES: To identify the etiological agent in bacterial conjunctivitis and to determine the antibiogram of bacterial isolates. METHODOLOGY: This observational study was conducted at Dr. Essa's Laboratory over a period of 12 months ending in March 2012. Two hundred samples taken from conjunctiva of patients with conjunctivitis were cultured on routine medium and the antibiograms of bacterial isolates were determined by Kirby- Bauer disc diffusion method. RESULTS: The analysis of the culture showed that 41% were cultured positive with gram positive bacteria Staphylococcus aureus 52.5% and Staphylococcus epidermidis 30.1% and Micrococci 8.3%. However, 9.1% were gram negatives with Klebsiella pneumoniae 5.14% and Pseudomonas aeruginosa 2.6% and 1.36% were others (Acinetobacter, Haemophilus , E.coli and Moraxella) keeping in view the increasing use of contact lens and unclean fingers. The overall antibiograms of bacterial isolates indicate aminoglycosides (gentamicin, tobramicin) and the newer quinolones as apparent drug of choice for empirical therapy, followed by chloramphenicol, since drug fussy gram-negatives such as Pseudomonas, Acinetobacter and E.coli were among the conjunctival isolates. Resistance profile of gram positive isolates shows cefixime 91.4%, doxycycline 57.9%, cotrimoxazole 29.3%, ampicillin 22.9%, ciprofloxacin 13.4%, cephradine 8.3%, cefuroxime 7.1%, fosfomycin 4.7%, ceftriaxone 3.6%, co-amoxiclav 3.6%, cefotaxime 3.5%, vancomycin 2.6%. CONCLUSION: Resistance to all conventionally used antibiotics is increasing, therefore identification of etiological agent and antibiogram is important to treat conjunctivitis and to avoid complications.

Current efficacy of antibiotics against Klebsiella isolates from urine samples - a multi-centric experience in Karachi.

Due to emergence of bacterial resistant strains, the effectiveness of current antibiotic treatment without culture/sensitivity testing is questionable. Our study aims to assess the present sensitivity profiles of Klebsiella isolates from urine samples and provide options for empiric prescription in critically ill patients. Klebsiella pneumoniae isolates collected over a period of 28 months till January 2011 from 1,617 urine samples of subjects presenting with Urinary Tract Infections were identified at a local diagnostic lab using standard protocol and subjected to Kirby-Bauer disk diffusion sensitivity testing. MICs were also estimated by E-nephelometry. Among 20 drugs used, low sensitivity was found to amoxicillin (0.1%), doxycycline (11.5%), nitrofurantoin (15.5%), amoxiclav (18.2%), gentamicin (35.4%), pipemidic acid, cephradine (40.3%) and cotrimoxazole (43.1%). The isolates were more sensitive to cefuroxime (55.9%), cefixime (57.7%), ciprofloxacin (62.5%), ofloxacin (63%), ceftriaxone (66.2%), ceftazidime (66.4%), cefotaxime (66.6%), fosfomycin (77.5%) and amikacin (89.4). Most effective were cefroperazone.sulbactam (95.8%), piperacillin.tazobactam (95.7%) and imipenem (97.7%). Self-medication, lack of awareness, and the misuse of antibiotics by doctors has exacerbated the menace of microbial resistance. The study warrants the prudent choice of drugs in adherence with prevailing sensitivity profiles.

Prevalence and emerging resistance of Moraxella catarrhalis in lower respiratory tract infections in Karachi.

OBJECTIVE: To determine the prevalence of Moraxella catarrhalis in sputum cultures from patients with lower respiratory tract infection and their antimicrobial sensitivity profiles. METHODS: The study comprised sputum specimens of 776 patients at various branches of Dr Essa's Diagnostic Lab, Karachi. The specimens were cultured on blood, chocolate, and eosin methylene blue agars between October 2010 and October 2011. The isolates were identified by conventional methods and anti-biograms were determined by the Kirby-Bauer Agar Disc Diffusion Method. RESULTS: Moraxella catarrhalis was isolated from 39 (5.02%) sputa of which 18 (46.15%) belonged to males. The bimodal age prevalence was 238 (30.7%) in age group 20-29 years, and 180 (23.1%) in 70 years and above. Amoxicillin/clavulanate, cefotaxime, and ceftriaxone were most effective (100%). Very high resistance was seen with amikacin (92.3%), cefixime (92.3%), fosfomycin (84.6%), cefuroxime (84.6%), erythromycin and amoxicillin (76.9%), cotrimoxazole (90%) and doxycycline (76.9%). CONCLUSIONS: The incidence of Moraxella catarrhalis in sputum encourages routine culture and sensitivity of sputa from patients suffering from lower respiratory tract infection, especially the elderly and immunocompromised, for tailored drug prescription.

Increasing ciprofloxacin resistance of isolates from infected urines of a cross-section of patients in Karachi.

BACKGROUND: The objective of the research was to evaluate the current effectiveness of ciprofloxacin on the uropathogens prevalent in infected urines of a cross-section of patients in Karachi, Pakistan. FINDINGS: An observational study conducted in a private diagnostic laboratory and its branches in key areas of Karachi City from February 2010 to July 2011. A total of 2963 consecutive urine samples were cultured on chocolate agar, CLED medium and selective EMB agar. Growth of possible uropathogens was noted, and compared retrospectively with earlier lab data of suggestive urine cultures (n = 1997) recorded during January 2009 and December 2009. The isolates were identified using routine procedures and the API 20 system and evaluated for their sensitivity to ciprofloxacin by Kirby-Bauer disk diffusion method. Data was subjected to statistical analysis on SPSS version 16. Out of the present-day culture-positive urines, 2409 (80.4%) yielded gram-negative rods, and 554 (18.5%) gram-positive cocci. E.coli (43.1%) was most frequent, followed by Klebsiella pneumoniae (22.4%) and Staphylococcus aureus (15.5%). 57.2% of the Gram-negative bacteria and 48.7% of the Gram-positive isolates were resistant to ciprofloxacin. In the earlier (2009) screening, 39% of Gram-negative rods and 48% of Gram-positive cocci were indifferent to the drug. CONCLUSIONS: A decrease in bacterial susceptibility of uropathogens to ciprofloxacin, a commonly prescribed drug in our population, is underlined, occurring possibly due to overuse pressure. Empirical initial treatment with ciprofloxacin would be inadequate in more than half of UTI cases, thereby counseling increased C/S testing of urines to provide existing sensitivity data for apt drug prescription.

Frequency of HBsAg positivity: a laboratory data analysis.

The objective of the study was to evaluate the current frequency ratio of HBsAg seropositivity in a laboratory-based setting. It was a retrospective study, conducted during September 2009 and November 2010 at Dr. Essa's Diagnostic Laboratory and its branches in Karachi, Pakistan. Blood samples of 8,648 individuals were screened for HBsAg using the BioRad EVOLIS EIA method. Pertinent questionnaires filled in by 50 practicing physicians were also evaluated. The 551 subjects (6.4%) that tested positive for HBsAg included 360 males (65.3%) and 191 females (34.6%). The highest frequency of HBsAg was noted in those aged 16 - 29 years (43.9%). HBsAg rate in the studied population has steadily increased and is more common in the sexually active age group, with males tending to be more often seropositive than females.

Prevalence of hepatitis 'B' and hepatitis 'C' among preoperative cataract patients in Karachi.

BACKGROUND: To report the findings of preoperative screening regarding prevalence of hepatitis B and hepatitis C in patients presenting for cataract surgery. FINDINGS: A descriptive study was conducted among 377 patients presenting for cataract surgery to Department of Ophthalmology Unit I, CHK from April 2010 to May 2011. Convenience sampling was done to recruit the participants aged 18 years and above. The patients were screened for hepatitis B and C infections and findings were recorded on a structured compilation sheet.The total prevalence of both hepatitis B and hepatitis C in preoperative Cataract patients was found to be 49 out of 377(12.99%). Overall, 8 out of 377 (2.1%) patients were HBsAg positive and 42 out of 377 (11.1%) were Anti-HCV positive. Only 1 patient was found with a co-infection with both HBsAg and Anti-HCV positive. CONCLUSIONS: High proportions of hepatitis B and C are reported among preoperative cataract patients of Karachi. Routine serological screening prior to surgery should be made mandatory so that asymptomatic patients would no longer pose a threat to its spread.

Temporal expression of extracellular products of Staphylococcus aureus in vivo mouse cage model.

OBJECTIVE: To test the hypothesis that Staphylococcus aureus genome has regulatory genes which coordinate the expression of extracellular products, and particular genes not expressed in vitro conditions may be turned on in a vivo environment. METHODS: The study was conducted at the Immunology and Infectious Disease Research Laboratory (IIDRL), Microbiology Department, Husein Ebrahim Jamal Research Institute (HEJ), Animal House, Karachi University, from July to December 2009. Micro pore Teflon cages using a mouse cage model were fixed into the subcutaneous tissue in Albino mice (BALB/c) on their dorsal surface. After 15 days, the holes closed down with healthy tissue. Three staphylococcal isolates from clinical samples confirmed by DNA sequencing of 16s ribosomal RNA were tested for expression of extracellular protein in vitro and were later injected into the cages. After the institution of infection, the fluid aspirated from the cages was analysed by Sodium dodecyl polyacrylamide gel electrophoresis (SDS-PAGE). This was done to test for possible induction of additional extracellular proteins in vivo. RESULTS: The appearance of enhanced extracellular products was observed in the fluid recovered from the cages of two mice on days 5 and 7 subsequent to the institution of infection, suggesting a turn-on of particular genes which were not expressed in vitro conditions. CONCLUSIONS: In-vivo host and environmental signals contribute to the induction of genes for the production of extracellular proteins.

An achievement of professional, public, and patient education: the design and evaluation of a comprehensive cancer control plan for Alabama.

This Alabama statewide cancer control plan for 2011-2015 seeks to build on the successes of two previous 5-year plans while developing new objectives that address cancer disparities and cancer prevention over the entire lifespan. The approach to defining objectives for this Plan was systematic and sought input from all members of the Alabama Comprehensive Cancer Control Coalition (ACCCC). The Plan that was fashioned is based on input from academic medical centers, private physicians, government agencies, regulatory agencies, health societies, private citizens, and cancer survivors, all of whom are active Coalition members who exchange information, opinions, and knowledge from their respective points of view. The Plan could not have taken shape without the full input of health professionals, statisticians, graduate students, former patients, and concerned citizens; it is truly an example of the synergy of professional, public, and patient education.

Enteric fever in Karachi: current antibiotic susceptibility of Salmonellae isolates.

OBJECTIVE: To determine the current sensitivity and resistance profile of Salmonellae (S.) isolates in a laboratory setting. STUDY DESIGN: An observational study. PLACE AND DURATION OF STUDY: Dr. Essa`s Laboratory and Diagnostic Centre, Karachi, Pakistan, from November 2008 - October 2010. METHODOLOGY: Isolates from blood culture specimens of 481 bacteraemic patients were identified using conventional biochemical tests. Salmonellae was confirmed with specific antisera and their antibiograms determined by Kirby-Bauer Disc Diffusion method using 12 relevant antibiotics. Inclusions of the study were bacteraemia documented in all blood samples positive for S. typhi, S. paratyphi-A and B. Exclusions were all samples other than blood and blood samples negative for S. typhi and S. paratyphi-A and B during the same period. Multidrug resistance (MDR) of isolates was defined as the isolates showing resistance to all conventional anti-typhoid medicines i.e., Chloramphenicol, Ampicillin and Co-trimoxazole. RESULTS: Specimens (n=217) yielded 131 Salmonellae typhi (60.36%), 71 S. paratyphi-A (32.71%), and 15 S. paratyphi-B (6.9%); these were sensitive to the Quinolones [Enoxacin: 94.96% (n=91), Ciprofloxacin, 96.47% (n=182), Ofloxacin: 95.74% (n=203)], and Cephalosporins [Cefixime: 96.62% (n=202), Cefotaxime: 99.17% (n=206), Ceftriaxone: 98.79% (n=208)]. Resistance to Amoxicillin was 96.48% (n=128) and 29.91% (n=78) to Co-trimoxazole. About 62.64% (n=136) of the isolates were MDR strains. CONCLUSION: Ciprofloxacin is currently a suitable empirical choice in presumed enteric fever cases, but culture and sensitivity analysis should be encouraged and results incorporated in prescription strategy. Increasing frequency of S. paratyphi-A isolates possibly suggests incomplete coverage employing monovalent vaccine.

Current pattern of antibiotic resistance in Staphylococcus aureus clinical isolates and the emergence of vancomycin resistance.

OBJECTIVE: To determine the pattern of antibiotic resistance in the clinical isolates of Staphylococcus (S.) aureus, Methicillin Resistant S. aureus (MRSA) and define the possible emergence of Vancomycin resistant S. aureus (VRSA) in Karachi. STUDY DESIGN: An observational study. PLACE AND DURATION OF STUDY: Essa Laboratories and Department of Molecular Genetics, Ziauddin Hospital, from January to December 2009. METHODOLOGY: Staphylococcal isolates from different clinical specimens, pus, urine, blood, high vaginal swab and other secretions received at Ziauddun laboratories and Dr.Essa laboratories were collected. The specimens were inoculated on blood agar, MacConkey agar and Chrom agar. Antibiotic susceptibility to conventional antibiotics was done by disc diffusion, and E-test. Methicillin resistance was tested by using Oxacillin and Methicillin disks and confirmed by gold standard PCR for presence of mecA gene. All MRSA strains were subjected in addition to Vancomycin screen agar test. RESULTS: Out of the 450 S. aureus isolates 174 (38.6%) were found to be MRSA. In those isolates, high resistance was found to Cefixime (100%) Doxicycline (100%) Oxacillin (96.5%) Gentamicin, (96.3%), Timethoprim/Sulfametoxazole (95.6%) Chloramphenicol (93%) Tobramicin (81.03%), Ofloxacin (72.4%) and Ciprofloxacin (63.7%). Low resistance was found to Ceftazidine (36%), Amoxicillin/Clavulanate (32.7%), Fosfomycin (31%), Cefroxime (24%), Amikacin (17.2%) and Meropenem (13%). One isolate was found to be Vancomycin resistant (MIC 32 µg/ml). Four isolates had intermediate resistance, with two strains having MIC of 16µg/ml and two having MIC of 8µg/ml. These strains were also resistant to all the other tested antibiotics except Linezolid to which all isolates were susceptible. CONCLUSION: Antibiotic resistance to all the conventionally used antibiotics was high in the tested isolates. All the strains were susceptible to Linezolid which is an expensive alternative with adverse side effects. Judicious use of antibiotics focused on the compliance and formation of antibiotic policy guide lines is highly recommended.

Complete Androgen Insensitivity Syndrome.

The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genitalia and the presence of abdominal mass, possibly testes. Syndrome has been linked to mutations in AR, the gene for the human Androgen Receptor, located at Xq11-12 leading to the insensitivity of the receptor to testosterone. Gonadectomy was performed and life long Hormone replacement therapy was advised.