Pathology Commons^™

Histologic Findings In Biopsies/Resection Specimens From The Small Intestine With Special Emphasis On Celiac Disease: Experience From A Developing Country In South Asia, Huma Arshad, Zubair Ahmad

Department of Pathology and Laboratory Medicine

Biopsies from the small intestine especially the duodenum are now being performed much more frequently than in the past. The most frequent reason for performing duodenal biopsies is to evaluate for malabsorption. In the last few years, increased awareness has resulted in more biopsies sent for evaluation of malabsorption, especially celiac disease (CD). In the duodenum, features of malabsorption (increased intraepithelial lymphocytes, villous shortening, and atrophy) were the most common histologic finding seen in 63.4% of cases. Serum tTG levels were available for correlation in 52.8% of cases. In patients with confirmed CD, 53.4% were MARSH IIIb, and 29.5% were …

Allogeneic Stem Cell Transplantation In Acute Myeloid Leukemia, Natasha Bahadur Ali, Salman Adil, Mohammad Usman Shaikh, Nehal Masood

Department of Pathology and Laboratory Medicine

We report a case series of 12 patients with acute myeloid leukemia who underwent allogeneic stem cell transplant with a matched related donor. Male to female ratio was 1:1. The main complication post-transplant was graft-versus-host disease (n=7 patients). Transplant-related mortality involved one patient; cause of death was multi-organ failure. After a median follow up of 36.0±11.3 months, overall survival was 16%.

Diagnostic Utility Of Anti-Citrullinated Protein Antibody And Its Comparison With Rheumatoid Factor In Rheumatoid Arthritis, Aysha Habib, Lena Jafri, M. Ahraz Hussain, Saliha Ishaq

Department of Pathology and Laboratory Medicine

Objective: To assess the diagnostic utility of anti-citrullinated protein antibody (anti-CCP) in rheumatoid arthritis (RA) and compare it with rheumatoid factor (RF). Study Design: Analytical study. Place and Duration of Study: Section of Chemical Pathology, Department of Pathology and Microbiology and Medicine, the Aga Khan University, Karachi, from January to May 2010. Methodology: A review of medical records of patients presenting to the clinics with complaints of muscular or joint pains and who were tested for their serum anti-CCP was done. Inclusion criteria were presence of clinical synovitis in at least one joint and an absence of alternative diagnosis. Patients …

Multifocal Venous Thrombosis In Behcet’S Disease, Lena Jafri, Nosheen Nasir, Aysha Almas

Department of Pathology and Laboratory Medicine

Behcet's disease is a multisystem inflammatory vascular disorder with a chronic course characterized by recurrent oral and genital ulcers, eye lesion, arthritis and skin lesions. It has a typically waxing and waning course. The cause and pathogenesis of the disease are unclear and specific treatment is not available. A 39 years old man presented with rash, ocular manifestation and left leg swelling. He was found to have deep venous thrombosis of left leg along with recurrent cerebral venous thrombosis. He was a known case of Behcet's disease since 3 years and had been on anticoagulants since then.

Macrolide And Fluoroquinolone Resistance In Helicobacter Pylori Isolates: An Experience At A Tertiary Care Centre In Pakistan, Sana Rajper, Erum Khan, Zubair Ahmad, Syed Muhammad Zaheer Alam, Adil Akbar, Rumina Hasan

Department of Pathology and Laboratory Medicine

Objective:
To assess fluoroquinolone and clarithromycin susceptibility pattern along with the types of genomic mutations involved in the resistance of Helicobacter pylori isolates.
Methods:
The cross-sectional study was conducted at the Department of Pathology and Microbiology, Aga Khan University Hospital, Karachi, from June 2009 to July 2010, and comprised 162 gastric biopsy samples which were tested with GenoTypeHelicoDR (Hain Lifescience GmbH, Germany), a reverse hybridisation multiplex polymerase chain reaction (PCR) line probe assay (LiPA). Also, 23S rRNA (ribosomal ribonucleic acid) gene was analysed with three-point mutations at A2146G, A2146C and A2147G for clarithromycin, and gyrA gene was analyzed at two …

Line Probe Assay For Detection Of Rifampicin And Isoniazid Resistant Tuberculosis In Pakistan, Joveria Qais Farooqi, Erum Khan, Syed Muhammed Zaheer Alam, Asho Ali, Zahra Hasan, Rumina Hasan

Department of Pathology and Laboratory Medicine

Objective:
To assess the efficacy of a line-probe assay delta (LiPA) as rapid diagnostic test for early detection of drug-resistant tuberculosis compared to conventional susceptibility methods in Pakistan.
Methods:
Resistance to rifampicin (RIF) and isoniazid (INH) in 108 smear-positive pulmonary tuberculosis samples was detected using a line-probe assay [GenoType MTBDRplus (Hain Lifescience, GmbH, Nehren, Germany)] at the clinical microbiology laboratory of Aga Khan University Hospital in May, 2009. Results were compared with susceptibilities performed while using agar proportion.
Results:
In comparison to the agar proportion method, the detection rate and specificity of resistance using MTBDR plus was 92.5% and 98.2% …

Clinical Significance Of Maternal Anti-Cw Antibodies: A Review Of Three Cases And Literature, Shabneez Malik, Bushra Moiz

Department of Pathology and Laboratory Medicine

Anti Cw antibody is a low frequency immunoglobulin (IgG) against red cell antigen- Cw. It is clinically significant and may cause haemolytic disease of the newborn. Due to its low frequency, it is not included in routine antenatal antibody screening panel. The incidence of Anti Cw antibodies has not been reported in our population. Here, we describe the clinical and laboratory spectra of three pregnant women having low titres anti Cw antibodies. Fortunately, haemolytic disease of the newborn was not encountered in any case.

Response Of A Single 'Mega Intramuscular Dose' Of Vitamin D On Serum 25ohd And Parathyroid Hormone Levels, Aysha Habib, Dileep K Rohra, Shakil A Saghir, Shamsa K Udani, Richard Wood, Abdul Jabbar

Department of Pathology and Laboratory Medicine

Objective: To determine the changes produced in serum 25OHD and iPTH levels after 600,000 IU of injection cholecalciferol in volunteers. Study Design: Interventional study. Place and Duration of Study: Section of Chemical Pathology, Department of Pathology and Microbiology, the Aga Khan University Hospital, Karachi, from June 2009 - June 2010. Methodology: Volunteers of either gender aged 18-40 years with known 25OHD, calcium (Ca), creatinine (Cr) and phosphorous (P) levels were included in the study. Subjects on therapy like vitamin D and calcium supplements, corticosteroids or anti-epileptic medicines, primary hyperparathyroidism and hypercalcaemia, with co-morbidity like renal failure, liver disease and history …

Hemoglobin E Syndromes In Pakistani Population., Bushra Moiz, Amna Nasir, Anila Rashid, Tariq Moatter, Mashhooda Rasool Hashmi

Department of Pathology and Laboratory Medicine

Background:Hemoglobin E is an important hemoglobin variant with a worldwide distribution. A number of hemoglobinopathies have been reported from Pakistan. However a comprehensive description of hemoglobin E syndromes for the country was never made. This study aimed to describe various hemoglobin E disorders based on hematological parameters and chromatography. The sub-aim was to characterize hemoglobin E at molecular level.

Methods:

This was a hospital based study conducted prospectively for a period of one year extending from January 1 to December 31, 2008. EDTA blood samples were analyzed for completed blood counts and hemoglobin variants through automated hematology analyzer and …

Is Nalidixic Acid Screening Still Valid For The Detection Of Reduced Susceptibility Of Fluoroquinolone With Salmonella Typhi?, Seema Irfan, Kauser Jabeen, Umair Anwar Jilani, Bushra Ahmed, Jaishri Mehraj, Tanwir Ahsan, Afia Zafar

Department of Pathology and Laboratory Medicine

Introduction: Considering the limitations of screening with nalidixic acid to detect reduced susceptibility to fluoroquinolones of Salmonella enterica serovar Typhi (S.Typhi) strains, we evaluated the use of a 30 µg nalidixic acid disc screening method in Pakistan.
Methodology: Non duplicate nalidixic acid susceptible S. Typhi isolates (246) from 2003-2008 were retrieved from the Salmonella strain bank. Minimum inhibitory concentrations of ciprofloxacin for all strains were determined by agar dilution and further rechecked by ciprofloxacin E-tests.E. coli ATCC 25922 was used as the control strain. The MIC data for ciprofloxacin were compared with nalidixic acid disk (30µg) zone diameters.
Results: …

Evaluation Of Elevated Alanine Aminotransferase And Hepatitis B Virus Dna In Healthy Seronegative Blood Donors, Natasha Ali, Bushra Moiz, Tariq Moatter

Department of Pathology and Laboratory Medicine

Background: Serum alanine transaminase (ALT) has been used as a surrogate marker for detection of hepatitis B and C in blood donors in Pakistan since 1985. Since the introduction of more sensitive assays the value of ALT became questionable but it was still used with subsequent wastage of blood units with raised ALT.
Finding: We conducted a study for a period of one year to evaluate the usefulness of ALT. During the study period, 25117 subjects donated blood. Eight hundred and seventy two donors (3.4%) were positive for one or more serological tests. ALT of all donors ranged from …

Neonatal Hyperbilirubinemia In Infants With G6pd C563c > T Variant, Bushra Moiz, Amna Nasir, Sarosh Ahmed Khan, Saleema Amin Kherani, Maqbool Qadir

Department of Pathology and Laboratory Medicine

Background: There is a strong correlation between glucose-6-phosphate dehydrogenase (G6PD) deficiency and neonatal hyperbilirubinemia with a rare but potential threat of devastating acute bilirubin encephalopathy. G6PD deficiency was observed in 4–14% of hospitalized icteric neonates in Pakistan. G6PD c.563C > T is the most frequently reported variant in this population. The present study was aimed at evaluating the time to onset of hyperbilirubinemia and the postnatal bilirubin trajectory in infants having G6PD c.563C > T.
Methods: This was a case–control study conducted at The Aga Khan University, Pakistan during the year 2008. We studied 216 icteric male neonates who were re-admitted for …

Species Identification Of Invasive Yeasts Including Candida In Pakistan: Limitations Of Phenotypic Methods, Joveria Farooqi, Kauser Jabeen, Noureen Saeed, Afia Zafar, Mary Eleanor Brandt, Rumina Hasan

Department of Pathology and Laboratory Medicine

Objective: To compare phenotypic and genotypic methods of yeast identification. Methods: The in-vitro cross-sectional study was conducted from January 2006 to May 2009. Invasive yeasts isolated at the clinical microbiology laboratory at the Aga Khan University (AKU), Karachi, Pakistan, were identified. Speciation by phenotypic and molecular methods was compared. All yeasts isolated during the study period from blood and other invasive sites were identified using standard methods. Isolates were shipped to Mycotic Diseases Branch, Centres for Disease Control and Prevention, Atlanta, Georgia, USA, for identification by Luminex flow cytometric multianalyte profiling (xMAP) system. Ribosomal ITS2 DNA sequencing was performed …

High Isoniazid Resistance Rates In Rifampicin Susceptible Mycobacterium Tuberculosis Pulmonary Isolates From Pakistan, Naima Fasih, Yasraba Rafiq, Kausar Jabeen, Rumina Hasan

Department of Pathology and Laboratory Medicine

Background:
Rapid new diagnostic methods (including Xpert MTB/RIF assay) use rifampicin resistance as a surrogate marker for multidrug resistant tuberculosis. Patients infected with rifampicin susceptible strains are prescribed first line anti-tuberculosis therapy. The roll out of such methods raises a concern that strains with resistance to other first line anti-tuberculosis drugs including isoniazid will be missed and inappropriate treatment given. To evaluate implications of using such methods review of resistance data from high burden settings such as ours is essential.
Objective:
To determine resistance to first line anti-tuberculosis drugs amongst rifampicin susceptible pulmonary Mycobacterium tuberculosis (MTB) isolates from Pakistan.
Material …

Lymphangioma Circumscriptum In The Scrotum: A Case Report, Saroona Haroon, Sheema H. Hasan

Department of Pathology and Laboratory Medicine

Introduction:
Lymphangioma circumscriptum is a rare benign skin disorder involving hamartomatous lymphatic malformation of deep dermal and subcutaneous lymphatic channels. It is a therapeutic challenge for the dermatologist when it occurs at common sites such as axilla, shoulder, groin and buttocks and a diagnostic challenge for the surgeon when it occurs at rare sites such as the scrotum. Surgical treatment is the most commonly used method to treat scrotal lymphangioma circumscriptum but there are high rates of recurrence.
Case Presentation:
We report the case of a 30-year-old Pakistani man who presented with scrotal swelling which was clinically misinterpreted as an …

Outcome Of Match Related Allogeneic Stem Cell Transplantation Procedures Performed From 2004 Till 2011, Natasha Ali, Salman Naseem Adil, Mohammad Usman Shaikh, Munira Moosajee, Nehal Masood

Department of Pathology and Laboratory Medicine

We present our initial experience of allogeneic stem cell transplant procedure performed between April 2004 and August 2011 for various haematological disorders. All patients with non-malignant and malignant haematological disorders with HLA matched donors were selected after pre-transplant workup. Ninety seven patients underwent the procedure. Most common indications for transplant were aplastic anaemia in n=34 (35%), followed by beta-Thalassemia major in n=21 (21.6%) and chronic myeloid leukemia in n=11 patients (11.3%). Primary graft failure present was present in 2.06%. Incidence of graft versus host disease (GvHD) in our patients was 34%. After median follow-up of five years the overall survival …

Differential Combination Of Cytokine And Interferon- Gamma +874 T/A Polymorphisms Determines Disease Severity In Pulmonary Tuberculosis., Ambreen Ansari, Zahra Hasan, Ghaffar Dawood, Rabia Hussain

Department of Pathology and Laboratory Medicine

Background:Mycobacterium tuberculosis infects nearly 1/3 of the world population and this reservoir forms the largest pool from which new cases arise. Among the cytokines, IFN-gamma is a key determinant in protection against tuberculosis. Single nucleotide polymorphisms (SNPs) in IFN-gamma gene (+874 T/A) which determine TT high ((hi)), AA low ((lo)) and TA intermediate ((int)) responder phenotypes have shown variable associations with tuberculosis disease outcome in different ethnic populations. The objective of the current study was to analyze IFN-gamma gene combinations with other IFN-gamma regulating cytokine genes (IL-10, TNF -alpha, IL-6) to see the effect of gene- combinations on disease …

Brca1 Status In Pakistani Breast Cancer Patients With Moderate Family History, Tariq Moatter, Muniba Aban, Shaista Khan, Iqbal Azam, Shahid Pervez

Department of Pathology and Laboratory Medicine

OBJECTIVE: To determine BRCA1 status in breast carcinoma patients of Pakistani origin.

STUDY DESIGN: Observational study.

PLACE AND DURATION OF STUDY: The Oncology Clinics of the Aga Khan University Hospital, Karachi, between May 2005 and December 2009.

METHODOLOGY: Fifty three breast cancer patients based on clinical and laboratory diagnosis were recruited for this study. Moderate family history was defined as having a close relative (mother, daughter, sister) diagnosed with breast cancer under 45 years. Peripheral blood samples were collected from each patient in a 5 ml tube containing EDTA as anticoagulant. Subsequent to DNA extraction, mutational analysis of BRCA1 exons …

Ccl2/Mcp-I Genotype-Phenotype Relationship In Latent Tuberculosis Infection, Rabia Hussain, Ambreen Ansari, Najeeha Talat, Zahra Hasan, Ghaffar Dawood

Department of Pathology and Laboratory Medicine

Among the known biomarkers, chemokines, secreted by activated macrophages and T cells, attract groups of immune cells to the site of infection and may determine the clinical outcome. Association studies of CCL-2/MCP-1 -2518 A/G functional SNP linked to high and low phenotypes with tuberculosis disease susceptibility have shown conflicting results in tuberculosis. Some of these differences could be due the variability of latent infection and recent exposure in the control groups. We have therefore carried out a detailed analysis of CCL-2 genotype SNP -2518 (A/G transition) with plasma CCL-2 levels and related these levels to tuberculin skin test positivity in …

Presence Of Rd149 Deletions In M. Tuberculosis Central Asian Strain 1 Isolates Affect Growth And Tnfalpha Induction In Thp-1 Monocytes., Akber Kanji, Zahra Hasan, Mehnaz Tanveer, Raunaq Mahboob, Sana Jafri, Rumina Hasan

Department of Pathology and Laboratory Medicine

Central Asian Strain 1 (CAS1) is the prevalent Mycobacterium tuberculosis genogroup in South Asia. CAS1 strains carry deletions in RD149 and RD152 regions. Significance of these deletions is as yet unknown. We compared CAS1 strains with RD149 and concurrent RD149-RD152 deletions with CAS1 strains without deletions and with the laboratory reference strain, M. tuberculosis H37Rv for growth and for induction of TNFα, IL6, CCL2 and IL10 in THP-1 cells. Growth of CAS1 strains with deletions was slower in broth (RD149; p = 0.024 and RD149-RD152; p = 0.025) than that of strains without deletions. CAS1 strains with RD149 deletion strains …

Hiv-1 Circulating Recombinant Form In Nepal, Aniqa Shahid, Sameer M. Dixit, V. L. Gurbacharya, Dibesh Karmacharya, Syeda K. Ali

Department of Pathology and Laboratory Medicine

No abstract provided.

Comparison Of Chromogenic Urinary Tract Infection Medium With Cysteine Lactose Electrolyte Deficient Media In A Resource Limited Setting, Saba Qaiser, Muhammad Zeeshan, Kausar Jabeen, Tanwir Ahsan, Afia Zafar

Department of Pathology and Laboratory Medicine

OBJECTIVES: To compare the chromogenic UTI medium (CUM) with cysteine lactose electrolyte deficient medium (CLED) in terms of isolation of uropathogens, turnaround time and cost.

METHODS: A total of 251 urine samples were selected and inoculated on both CLED and CUM, growth was observed after 24 and 48 hours of incubation. Isolates were identified by colony's colour and biochemical tests. Turnaround time for identification and cost was calculated till final identification of microorganisms.

RESULTS: A discrepancy in isolation was observed in seven samples with growth on CUM in 24 hours while in 48 hours on CLED. There was 100% agreement …

Evaluation Of Prevalence Of Low And High Level Mupirocin Resistance In Methicillin Resistant Staphylococcus Aureus Isolates At A Tertiary Care Hospital, Summiya Nizamuddin, Seema Irfan, Afia Zafar

Department of Pathology and Laboratory Medicine

OBJECTIVE: To evaluate the trend of mupirocin resistance in MRSA, isolated at the Clinical Microbiology Laboratory of a tertiary care hospital.

METHODS: A total of 200 MRSA strains recovered over a 2 year period from various body sites were tested using the 5 and 200 microg discs of mupirocin to detect its resistance.

RESULTS: High level and low level mupirocin resistance were detected in zero and 1% of MRSA strains, respectively. Resistance to other non beta lactam antibiotics was also high. No MRSA strains were found to be resistant to vancomycin and tegicycline.

CONCLUSION: Mupirocin resistance was found to be …

Evaluation Of Predominant Neisseria Gonorrhoeae Strain Types And Its Correlation With Fluoroquinolone Resistance In Pakistan, Summiya Nizamuddin, Kauser Jabeen, Afia Zafar

Department of Pathology and Laboratory Medicine

OBJECTIVE: To study the predominant Neisseria gonorrhoeae strain types in Pakistan and to evaluate their correlation with fluoroquinolone resistance.

METHOD: A total of 314 strains were collected from 2007-2009. Of these 112 strains were randomly selected for serotyping via the coagglutination technique. Fluoroquinolone susceptibility was checked through the E-test method. Chi square was performed to assess the correlation between the strain type and fluoroquinolone resistance pattern.

RESULTS: N. gonorrhoeae isolates were typed in two serogroups and 28 serovars. Serogroup WI comprised 40% (n = 45) whereas WII/WIII was 60% (n = 67). Most commonly isolated serovar belonged to serogroup WI …

Knowledge And Beliefs Among Health Care Workers Regarding Hepatitis B Infection And Needle Stick Injuries At A Tertiary Care Hospital, Karachi, Faiza Habib, Durreshahwar K Khan, Shan-E Abbas, Faiza Bhatti, Afia Zafar

Department of Pathology and Laboratory Medicine

Hepatitis B virus (HBV) infection is a recognized occupational risk for health care workers (HCWs). This study aimed to assess the knowledge and beliefs of HCWs regarding HBV transmission and needle stick injuries (NSIs). A cross-sectional questionnaire based KAP study was conducted at Civil Hospital, Karachi, during the period of January to September 2006. HCWs were inquired about possible modes of HBV transmission and association with NSIs. Data were entered using EpiInfo 6.04d software. Statistical analysis was performed using SPSS 12.5 software. A total of 343 HCWs participated, and those answered at least 5 correct modes of HBV transmission were …

In Vitro Susceptibility Of Typhoidal Salmonellae Against Newer Antimicrobial Agents: A Search For Alternate Treatment Options, Saba Qaiser, Seema Irfan, Erum Khan, Tanwir Ahsan, Afia Zafar

Department of Pathology and Laboratory Medicine

OBJECTIVES: To determine the minimum inhibitory concentrations (MICs) of ceftriaxone, azithromycin, pefloxacin, cefipime and imipenem for Salmonella Typhi (S. Typhi) and Paratyphi.

METHODS: One hundred and fifty four isolates of Salmonella Typhi and S. Paratyphi A, B and C growing in blood culture were selected. MICs of ceftriaxone, azithromycin, pefloxacin, cefipime and imipenem were performed by agar dilution method as recommended by clinical laboratory standard institutes.

RESULTS: MIC90 of azithromycin and pefloxacin was 8 microg/ml, cefipime was 0.06 microg/ml and imipenem was 0.5 microg/ml. None of the strains were found to be resistant to ceftriaxone but 3 isolates showed higher …

Knowledge And Beliefs Among Health Care Workers Regarding Hepatitis B Infection And Needle Stick Injuries At A Tertiary Care Hospital, Karachi, Faiza Habib, Durreshahwar K Khan, Shan-E-Abbas, Faiza Bhatti, Afia Zafar

Department of Pathology and Laboratory Medicine

Hepatitis B virus (HBV) infection is a recognized occupational risk for health care workers (HCWs). This study aimed to assess the knowledge and beliefs of HCWs regarding HBV transmission and needle stick injuries (NSIs). A cross-sectional questionnaire based KAP study was conducted at Civil Hospital, Karachi, during the period of January to September 2006. HCWs were inquired about possible modes of HBV transmission and association with NSIs. Data were entered using EpiInfo 6.04d software. Statistical analysis was performed using SPSS 12.5 software. A total of 343 HCWs participated, and those answered at least 5 correct modes of HBV transmission were …

An Insight Into The Suspected Hba2' Cases Detected By High Performance Liquid Chromatography In Pakistan., Maliha Nusrat, Bushra Moiz, Amna Nasir, Mashhooda Rasool Hashmi

Department of Pathology and Laboratory Medicine

Background:Hemoglobin A2' (delta 16 Gly Arg) is globally the commonest delta chain variant of HbA2. It is clinically and hematologically silent but its sole importance lies in the underestimation of HbA2 quantity during the workup of beta-thalassaemia trait. High performance liquid chromatography (HPLC) identifies it as a small S-window peak with a mean retention time of 4.59 0.03 minutes. This study aims at describing the frequency of detection of HbA2' by HPLC in Pakistan and its confirmation at a molecular level. Potential HbA2' cases were identified by a retrospective review of 10186 HPLC chromatograms in year 2006. Prospective samples …

Gastric Malt Lymphoma: A Rarity, Shahid Pervez, Naureen Ali, Hina Aaqil, Khalid Mumtaz, Syed Siddiq Ullah, Nake Akhtar

Department of Pathology and Laboratory Medicine

Association of Helicobacter pylori (H. Pylori) infection with gastric 'Mucosa Associated Lymphoid Tissue' (MALT) lymphomas (MALTomas) is well established. In this study the frequency and characteristics of gastric MALToma over a period of 18 years was evaluated. During this period 24 patients with gastric MALToma were diagnosed; out of them, 13 (54.2%) had active H. Pylori infection. The mean and median age was 49.7 and 53.5 years. The male: female ratio was 17:7. The common presenting complaints were epigastric pain (n=10) and dyspepsia (n=9). Endoscopic findings revealed mild gastric hyperemia (n=16), superficial erosions (n=4) and superficial ulcers (n=4). It was …

Ethnic Disparity In 21-Hydroxylase Gene Mutations Identified In Pakistani Congenital Adrenal Hyperplasia Patients, Aysha Habib Khan, Muniba Aban, Jamal Raza, Naeem Ul Haq, Abdul Jabbar, Tariq Moatter

Department of Pathology and Laboratory Medicine

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH.

Methods: A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay.

Results: Overall, 29 Patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females …