Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia.

BACKGROUND: Lipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by region. This study aimed to identify the genetic variations associated with lipodystrophy in the southern part of Saudi Arabia. METHODOLOGY:  We conducted a retrospective study by recruiting nine patients from six families, recruiting the proband whole exome sequencing results or any other genetic test results, screening other family members using Sanger sequencing and analysing the carrier status of the latter. These patients were recruited from the Endocrinology and Diabetes Clinic at Jazan General Hospital and East Jeddah Hospital, both in the Kingdom of Saudi Arabia. RESULT: Eight patients were diagnosed with GLD, and one was diagnosed with PLD. Of the six families, four were consanguineously married from the same tribe, while the remaining belonged to the same clan. The majority of GLD patients had an AGPAT2 c.158del mutation, but some had a BSCL2 c.942dup mutation. The single PLD case had a PPARG c.1024C > T mutation but no family history of the disease. In all families evaluated in this study, some family members were confirmed to be carriers of the mutation observed in the corresponding patient. CONCLUSION:  Familial screening of relatives of patients with rare, autosomal recessive diseases, such as lipodystrophy, especially when there is a family history, allows the implementation of measures to prevent the onset or reduced severity of disease and reduces the chances of the pathogenic allele being passed onto future generations. Creating a national registry of patients with genetic diseases and carriers of familial pathogenic alleles will allow the assessment of preventive measures and accelerate disease intervention via gene therapy.

Effectiveness of Blood Glucose Time in Range to Reduce Risk of Blood Glucose Extrusion and Improve Blood Glucose Metrics in Type 1 Diabetic Patients.

BACKGROUND: With evolving diabetes technology, continuous glucose monitoring (CGM) and time in range have been advanced as critical measurements to assess complications. They have shown improvement in A1C levels and decreased episodes of blood glucose extrusion. AIMS: This study aimed to assess the awareness and utilization of blood glucose time in range and its effectiveness in reducing the risk of blood glucose extrusion and improving blood glucose metrics among patients with type 1 diabetes mellitus. METHODS: A retrospective study included 342 patients who met the inclusion criteria and were using the CGM, aiming for a TIR of 70% daily. Glycemic control was followed using TIR data, blood glucose extrusion frequency (including hyperglycemia and hypoglycemia events), active sensor time, average blood glucose, and glucose management indicator (GMI) levels. RESULTS: A total of 342 individuals participated in this study, the majority of whom were below 18 years of age (62.3%). The hypoglycemic frequency was significantly increased compared to the baseline, and most participants experienced hypoglycemia events (p = 0.0001). The incidences increased over time, with 90.9% and 93% having hypoglycemia at 60 and 90 days (p = 0.0001), respectively. The active scan and sensor time were not followed, which led to the blood glucose target not being achieved, with no improvement throughout the study. Consequently, no improvement occurred in glycemic control. CONCLUSION: CGM technology has been promising and proven effective in improving glycemic. However, our study did not show these benefits as expected, which could be explained by the underutilization and improper use of the CGM.

Effects of a Home-Based Physical Activity Program on Blood Biomarkers and Health-Related Quality of Life Indices in Saudi Arabian Type 2 Diabetes Mellitus Patients: A Randomized Controlled Trial.

The purpose of this study was to undertake a randomized control trial examining the effects of a 12-week home-based physical activity program on Saudi Arabian adults with type 2 diabetes. Sixty-four patients with type 2 diabetes mellitus were recruited from the Jazan Diabetes and Endocrinology Center, located in the Jazan region of southwestern Saudi Arabia. Patients were randomly assigned to either control, i.e., usual care (males = 46.9% and females = 53.1%, age = 45.88 ± 8.51 years, mass = 76.30 ± 15.16 kg, stature = 160.59 ± 8.94 cm, body mass index (BMI) = 29.73 ± 6.24 kg/m2, years since diagnosis = 8.12 ± 6.22 years) or a home-based physical activity (males = 50% and females = 50%, age = 42.07 ± 9.72 years, mass = 74.58 ± 13.67 kg, stature = 158.94 ± 9.38 cm, BMI = 29.44 ± 4.38 kg/m2, years since diagnosis = 12.17 ± 8.38 years) trial arms. The home-based physical activity group was required to undertake aerobic training by increasing their habitual step count by 2000 steps per day and performing resistance training 3 times per week for 12 weeks. The primary outcome was hemoglobin A1c (HbA1c), and secondary measures of anthropometrics, blood biomarkers, physical fitness, and patient-reported quality of life outcomes pertinent to type 2 diabetes were measured at timepoints, i.e., baseline, 12 weeks, and 24 weeks (follow-up). Intention-to-treat analyses revealed no significant alterations in the primary outcome (control: baseline = 8.71%, 12-weeks = 8.35%, and follow-up = 8.72%; home-based physical activity: baseline = 8.32%, 12-weeks = 8.06%, and follow-up = 8.39%) between trial arms. However, improvements in psychological wellbeing at follow-up measured using the Patient Health Questionnaire-9 were significantly greater in the home-based physical activity group (baseline = 6.84, 12-weeks = 5.96, and follow-up = 5.00) compared to the control (baseline = 6.81, 12-weeks = 5.73, and follow-up = 8.53). No other statistically significant observations were observed. Home-based physical activity is not effective in mediating improvements in HbA1c levels or secondary hematological, blood pressure, anthropometric, or fitness indices. However, given the link between psychological wellbeing and the etiology/progression of disease activity in type 2 diabetes, home-based physical activity may be effective for tertiary disease management. Future trials should examine the efficacy of relative exercise intensities greater than those in the current study.

Adverse Childhood Experience as a Risk Factor for Developing Type 2 Diabetes among the Jazan Population: A Cross-Sectional Study.

BACKGROUND: Adverse Childhood Experiences (ACEs), such as childhood abuse, neglect, and family dysfunction, prevent appropriate emotional, behavioral, and physical development. They are also a major public health issue, and have been debatably linked to chronic diseases, including type 2 diabetes mellitus (T2DM). T2DM is highly prevalent in Saudi Arabia, and various theories have been raised to explain the epidemiology of diabetes. However, few studies have discussed the relationship between ACEs and T2DM. Thus, we aimed to evaluate the association between ACEs and T2DM in Jazan Province, Saudi Arabia. METHODS: This observational, cross-sectional study was conducted using a validated questionnaire distributed among patients with T2DM in a diabetes center. The t-test and Chi-Square test were used for comparison, and the p-value was set at <0.05 for significance. RESULTS: A total of 579 participants were involved in this study, and 303 (52.33%) were female. Among the included participants, 45.25% were diagnosed with T2DM. About 28.71% of participants with diabetes experienced verbal abuse, 16.09% experienced physical abuse, and 30.91% reported that parents beat them. Additionally, 1.58% of participants with diabetes reported living with a family member who abused substances, 8.83% believed that no one would take them to the doctor even if essential, 12.62% of participants with diabetes felt that no one would protect them, and 23.03% reported that they felt no one in their family loved them. All reported ACEs were significantly associated with a high risk of T2DM (p < 0.05), and the more frequent the ACEs, the more the risk of T2DM (p = 0.0001). CONCLUSIONS: This study indicated that ACEs are significantly associated with the development of T2DM, and the risk increases with the frequency of ACEs, which aligns with other studies. Further national studies are required to understand how ACEs could contribute to T2DM, and preventive interventions in childhood must be considered to reduce the burden of T2DM.

Disordered Eating Behaviors and Insulin Restriction in Saudi Adolescents and Young Adults with Type 1 Diabetes.

Background and Objectives: The prevalence of disordered eating behaviors (DEBs) in type 1 diabetes (T1D) has been studied globally; however, data from Saudi Arabia and Arab-speaking countries are scarce. This study aimed to measure the prevalence of DEBs and associated clinical characteristics in adolescents and young adults with T1D, and the impact of DEBs on glycemic parameters. Materials and Methods: A total of 265 adolescents and young adults with T1D (aged 12-25 years) were recruited randomly from the registry at the Jazan Endocrinology and Diabetes Center, Saudi Arabia. Participants completed the Diabetes Eating Problem Survey-Revised (DEPS-R) questionnaire. Other measures included hemoglobin A1c (HbA1c) in addition to sociodemographic, anthropometric, and clinical data. Results: The prevalence of DEBs among T1D was 27.2%. Females (32.5%) had a higher proportion of DEBs than males (18.6%) (p = 0.01). About 27% of the participants reported insulin restriction. A history of hospital admission in the previous 6 months due to DKA and frequent hypoglycemia was more frequently reported in T1D participants with DEBs compared to those without (p = 0.03). Participants with DEBs had higher HbA1c and higher BMI compared to those without DEBs. Conclusions: Adolescents and young adults with T1D with disordered eating and insulin restriction have higher glycated hemoglobin, and are at higher risk of DKA. Routine screening for DEBs should be an essential element in diabetes care, especially among highly vulnerable groups.

Validation of the Arabic Version of Diabetes Eating Problem Survey-Revised (DEPS-R) among Adolescents with Type 1 Diabetes.

Disordered eating behaviors (DEBs) in type 1 diabetes (T1D) have been studied globally in different age groups. However, there is no validated diabetes-specific questionnaire in the Arabic language for the screening of DEBs. This study aimed to translate the Diabetes Eating Problem Survey-Revised scale (DEPS-R) into the Arabic language and study its psychometric properties in adolescents with T1D. We adopted the forward-backward procedure to translate the DEPS-R questionnaire into Arabic. The validation study enrolled 258 Saudi adolescents with T1D aged 12-18 years who completed the Arabic DEPS-R questionnaire and the EAT-26. The Arabic DEPS-R showed good construct validity and reliability (Cronbach's alpha = 0.86). The factor analysis revealed a three-factor structure of DEPS-R which explains 54.4 % of the variance. In total, 30.6% of the participants are at high risk for DEBs (DEPS-R score ≥ 20). The psychometric properties of the Arabic DEPS-R are satisfactory, consistent with the original scale and translations in other languages. These results support the validity of the Arabic DEPS-R for assessment of DEBs in the T1D Arabic population.

Barriers and Attitudes of Primary Healthcare Physicians to Insulin Initiation and Intensification in Saudi Arabia.

Saudi Arabia is a country with high prevalence of diabetes, uncontrolled diabetes, and diabetes-related complications. Poor glycemic control is multifactorial and could be explained in part by physician and patient reluctance toward insulin or insulin inertia. This study aimed to address physician barriers toward insulin therapy in primary care settings. It included 288 physicians from 168 primary healthcare centers (PHC) in the Jazan region of Saudi Arabia. Participants responded to questionnaire investigating physicians' attitude and barriers to insulin initiation and intensification in PHCs. In physician opinion, the most common barriers among their patients were fear of injection, lack of patient education, fear of hypoglycemia, and difficult administration. Physicians were reluctant to initiate insulin for T2D patients mostly due to patient non-adherence to blood sugar measurement, non-adherence to appointment or treatment, elderly patients, or due to patient refusal. Physicians' fear of hypoglycemia, lack of staff for patient education, and lack of updated knowledge were the primary clinician-related barriers. Exaggerated fears of insulin side effects, patient non-adherence, limited staff for patient's education, patient refusal, and inadequate consultation time were the main barriers to insulin acceptance and prescription.

The Association between SARS-CoV-2 Infection and Diabetic Ketoacidosis in Patients with New-Onset Diabetes: A Retrospective Study from a Diabetic Center in Saudi Arabia.

BACKGROUND: Various reports described new-onset diabetes during or after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with no previous history of diabetes or glucocorticoid use. Further, SARS-CoV-2 could increase the risk of diabetes, including diabetic ketoacidosis (DKA). However, data on the relationship between new-onset diabetes and COVID-19 are still limited in our region. Thus, we aimed in this study to evaluate the association between new-onset diabetes and DKA in patients with COVID-19. METHODS: A retrospective, cross-sectional study was conducted at a diabetic center in Jazan province, Saudi Arabia, between 2020 and 2021. Demographic data, COVID-19 status, and DKA incidence were collected and verified manually from diabetic patients' medical records. Data were analyzed using a t-test and chi-square test. RESULTS: We included 54 diabetic patients diagnosed during the COVID-19 pandemic, with a median age of 17 years. The majority of patients were females (57.4%). About 38.8% were diagnosed with COVID-19, and 16.6% reported having DKA. About 33.3% of the patients who experienced DKA reported being COVID-19-positive. However, only 6% of patients who denied contracting SARS-CoV-2 developed DKA (p-value = 0.020). CONCLUSIONS: Patients with newly diagnosed diabetes due to COVID-19 seem at a higher risk of developing DKA. Further epidemiological and molecular studies are required for a better understanding of the correlation between DKA in patients with diabetes and COVID-19.

Psychological Health and Diabetes Self-Management among Patients with Type 2 Diabetes during COVID-19 in the Southwest of Saudi Arabia.

Background and objectives: The prevalence of type 2 diabetes in Saudi Arabia is high and rising steeply. However, the management of type 2 diabetic patients has largely employed a medical approach and ignored the self-care management approach. This observation has even been obscured further by the COVID-19 pandemic, which has affected the psychological health of these patients. This study aimed to understand the effects of psychological health and DSM on type 2 diabetic patients in the Jazan region during COVID-19. Materials and methods: An analytical cross-sectional study was employed in this study. Participants were type 2 diabetic patients from the diabetic center at Jazan, Saudi Arabia. The Arabic-translated version of the Patient Health Questionnaire (PHQ-9) and Generalized Anxiety Disorder Scale (GAD-7) were used to collect data. Data were analyzed using SPSS software. Results: Depression and anxiety were higher in females compared to males and were more reported by participants from urban compared to rural settings. Smoking and Khat chewing were inappropriate diabetic self-care management practices while exercising was appropriate. A negative correlation was observed between depression vs. health care utilization, and depression vs. diabetic self-care management. Anxiety results also showed similar findings to that of depression. Additionally, depression and anxiety were easily predicted by urban residence, and diabetic self-care management was predicted by exercise. Conclusions: Adequate self-care behavior in patients with type 2 diabetes is needed. Medical professionals should ensure improved efforts to accurately ascertain how an individual can implement the recommended lifestyle changes and facilitate self-care education.

Effects of a Home-Based Physical Activity Programme on Blood Biomarkers and Health-Related Quality of Life Indices in Saudi Arabian Type-2 Diabetes Mellitus Patients: Protocol for a Randomised Controlled Trial.

The Kingdom of Saudi Arabia is renowned for its high incidence of type-2 diabetes mellitus, with a prevalence rate of around 33%, which is expected to increase to 45.8% by 2030. Engagement in regular physical activity has been shown to significantly attenuate non-communicable diseases including type-2 diabetes. However, the overall rate of physical inactivity among Saudi Arabian adults is currently 80.5%, owing to time pressures, high-density traffic, poor air quality, lack of suitable exercise places/sports facilities, lack of social/friends support, gender, cultural barriers, low self-confidence, lack of time and environmental factors. Previous analyses have shown that home-based activity interventions can be effective. Therefore, given the aforementioned barriers to physical activity in Saudi Arabia; a home-based physical activity may be an ideal solution in type-2 diabetic patients. This manuscript describes the study protocol for a randomized control trial, examining the effects of a home-based physical activity intervention in Saudi Arabian adults with type-2 diabetes. The study will recruit 62 individuals with type-2 diabetes from the Jazan region of the Kingdom of Saudi Arabia, who will be individually randomized to either a physical activity or control group. This 24-week investigation will involve 12-weeks of physical activity in the physical activity group and feature three examination points i.e., baseline, 12-weeks and 24-weeks (follow-up). The primary study outcome is the between-group difference in blood HbA1c levels relative to controls. Secondary outcomes measures will be between-group differences in anthropometric, blood lipid, physical fitness, and patient-reported quality of life outcomes pertinent to type-2 diabetes. Statistical analysis will be conducted on an intention-to-treat basis. The trial has been granted ethical approval by Jazan University, Health Research Ethics Committee (REF: 2177) and formally registered as a trial (NCT04937296). We expect dissemination of the study findings from this investigation to be through publication in a leading peer-reviewed journal.

Physicians' Characteristics Associated with Their Attitude to Family Presence during Adult Cardiopulmonary Resuscitation.

Healthcare providers have disparate views of family presence during cardiopulmonary resuscitation; however, the attitudes of physicians have not been investigated systematically. This study investigates the patterns and determinants of physicians' attitudes to FP during cardiopulmonary resuscitation in Saudi Arabia. A cross-sectional design was applied, where a sample of 1000 physicians was surveyed using a structured questionnaire. The study was conducted in the southern region of Saudi Arabia for over 11 months (February 2014-December 2014). The collected data was analyzed using the Pearson chi-square test. Spearman's correlation analysis and chi-square test of independence were used for the analysis of physicians' characteristics with their willingness to allow FP. 80% of physicians opposed FP during cardiopulmonary resuscitation. The majority of them believed that FP could lead to decreased bedside space, staff distraction, performance anxiety, interference with patient care, and breach of privacy. They also highlight FP to result in difficulty concerning stopping a futile cardiopulmonary resuscitation, psychological trauma to family members, professional stress among staff, and malpractice litigations. 77.9% mostly disagreed that FP could be useful in allaying family anxiety about the condition of the patient or removing their doubts about the care provided, improving family support and participation in patient care, or enhancing staff professionalism. Various concerns exist for FP during adult cardiopulmonary resuscitation, which must be catered when planning for FP execution.

Diabetes-Related Distress and Depression in Saudis with Type 2 Diabetes.

OBJECTIVE: This study aims to assess the prevalence of diabetes mellitus (DM)-related distress and depression and their associated factors in Saudi people with type 2 DM (T2DM) in Jazan, Saudi Arabia. It also aims to assess the association between glycemic control and DM-related distress and depression. METHODS: This is an analytical, cross-sectional study which recruited 300 Saudi patients with T2DM randomly from primary healthcare centers in Jazan, Saudi Arabia. DM-related distress and depression were measured by valid questionnaires, the 17-item Diabetes Distress Scale and the Patient Health Questionnaire-9, respectively. Logistic regression and an independent t-test were performed in the statistical analysis. RESULTS: The mean age of the study population was 52.7 years, with a range of 23-83 years. The number of males was 147 (49%) and females was 153 (51%) in the study population. The prevalence of DM-related distress and depression in Saudi patients with T2DM in Jazan was 22.3% and 20%, respectively, and about 7.7% had both. Of DM-related distress, 12.3% had interpersonal-related DM distress, 11.7% had physician-related DM distress, 10.7% had emotional-related DM distress, and 7% had regimen-related DM distress. After adjusting for covariates, being female, patients aged <45, physical inactivity, DM duration <5 years, and smoking were significantly associated with DM-related distress and depression. There was also a significant association between DM-related distress and depression, OR = 3 [95% CI: 1.8, 6.4]. Furthermore, we found that glycated hemoglobin (A1C) levels were significantly higher in those with DM-related distress (small effect size, eta squared = 0.04) and depression (moderate effect size, eta squared = 0.06) (P < 0.001). CONCLUSION: DM-related distress and depression are prevalent in patients with T2DM in Jazan, Saudi Arabia. Both these conditions need to be screened for and addressed in clinical settings. Establishing the causality of DM-related distress and depression in T2DM is an important aim for any future studies.

Khat Chewing and Type 2 Diabetes Mellitus.

OBJECTIVE: Knowledge about the effects of khat chewing on type 2 diabetes mellitus (T2DM) development and glycemic control is very sparse. Emerging data suggest that khat chewing may increase the risk of T2DM occurrence. Therefore, this study aimed to measure the prevalence of khat chewing in Saudi people with T2DM in Jazan, Saudi Arabia and to determine the association of khat chewing with T2DM development and glycemic control in T2DM. METHODS: This is an analytical, cross-sectional study that included 472 Saudi participants selected randomly from primary healthcare centers in Jazan, Saudi Arabia. A chi-square test and logistic regression were performed in the statistical analysis. RESULTS: The prevalence of khat chewing in Saudi patients with T2DM in Jazan was 29.3%. After adjusting for covariates, khat chewing was significantly associated with T2DM (odds ratio 3.5), indicating that khat chewers had a more than three times higher risk of developing T2DM than those who do not chew khat. However, there was no association between khat chewing and glycemic control in T2DM. CONCLUSION: Khat chewing was highly prevalent in Saudi people with T2DM in Jazan, Saudi Arabia. There was an association between khat chewing and the development of T2DM. Establishing the causal association of khat chewing with T2DM development and glycemic control and clarifying the biological role of khat in T2DM are important aims for future studies.

Cardiac Arrhythmia in a Patient with Sickle Cell Anemia and Falciparum Malaria Treated with Intravenous Artesunate.

Treatment of severe malaria with artemisinin derivatives in patients with comorbid conditions such as sickle cell anemia must be considered with precaution. We report here a case of possibly undocumented ventricular arrhythmia in a sickle cell anemia patient diagnosed with Plasmodium falciparum malaria and treated with intravenous artesunate. The patient suffered from wide complex tachycardia after treatment with artesunate 170 mg (2.4 mg/kg) i.v. bolus, tachycardia was managed with amiodarone (150 mg i.v. for 10 minutes). Electrocardiographic abnormalities, including QT prolongation, are common in patients with sickle cell anemia. The mortality rate in sickle cell anemia patients due to cardiovascular and pulmonary complications remains high. The probability of precipitation of ventricular arrhythmias may increase in patients with sickle cell anemia, diagnosed with malaria and treated with artemisinin derivatives.

Vitamin B12 Deficiency and Foot Ulcers in Type 2 Diabetes Mellitus: A Case-Control Study.

OBJECTIVE: To assess the association between vitamin B12 deficiency and the development of diabetic foot ulcers (DFU) in type 2 diabetes mellitus (T2DM). METHODS: This is a case-control study that enrolled 323 Saudi adults with T2DM randomly selected from the Jazan Diabetes & Endocrine Center, Saudi Arabia from January 1, 2019, to July 31, 2019. The sample included 108 newly diagnosed cases with DFU and 215 control participants with T2DM unaffected by and free of foot ulcers (1:2 ratio). Logistic regression analysis was performed to determine the DFU predictors and to examine the association of DFU and vitamin B12 deficiency. RESULTS: The highest DFU rates were found among the male participants and the participants older than 45 years. Neuropathy, vasculopathy, vitamin B12 deficiency, poor glycemic control, poor feet self-care, Charcot foot, physical inactivity, and spending long time standing at work were significantly associated with DFU, and all except physical inactivity and spending long time standing at work were independent predictors of DFU. After adjustment for the covariates, vitamin B12 deficiency was significantly associated with DFU (odds ratio 3.1), indicating that the patients with T2DM and vitamin B12 deficiency had a three times higher risk of developing DFU than those with normal vitamin B12 levels. CONCLUSION: Vitamin B12 deficiency had a significant association with DFU among the Saudi participants with T2DM. Establishing the causality and clarifying the biological role of vitamin B12 deficiency in DFU is important aims for future studies.

Vitamin D deficiency and glycemic control among patients with type 2 diabetes mellitus in Jazan City, Saudi Arabia.

Background: The prevalence of vitamin D deficiency (VDD) is predicted to be high in patients with type 2 diabetes mellitus (T2DM), but the exact figure is not known in Jazan, Saudi Arabia. Emerging data suggests that VDD plays a role in glycemic control. The aim of this study was to measure the prevalence of VDD among T2DM patients and to investigate its association with patients' characteristics and glycemic control in Jazan. Methods: This is an analytical cross-sectional study which recruited 309 patients with T2DM randomly from primary health care centers in Jazan. Logistic regression analysis was conducted to determine the VDD predictors and to examine the association of VDD and glycemic control. Results: The VDD prevalence was found to be 60.8% in patients with T2DM. Age, gender, diabetic retinopathy (DR), dyslipidemia, glycemic control, and obesity were significantly associated with VDD, and all except obesity were independent predictors of VDD. There was a significant negative correlation between 25-hydroxyvitamin D and HbA1c. VDD was a significant independent predictor of poor glycemic control after adjustment for hypertension, DR, diabetic neuropathy, type of diabetes medication, diabetes duration, and education level. Conclusion: In this Saudi Arabian population, VDD is highly prevalent in people with T2DM and is associated with poor glycemic control. Health education targeting patients with T2DM and national strategies regarding vitamin D fortification are needed to prevent VDD in Saudi Arabia. Earlier VDD diagnosis by health care providers may help to improve the outcome for patients with T2DM. Establishing the causal association between VDD and glycemic control and clarifying the biological role of vitamin D in T2DM are important aims for future studies.

Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea.

Deficiency of the 5-α-reductase enzyme has been found to affect male sexual development. We report an 18-year-old patient who was referred to an endocrinology clinic in Jizan, Saudi Arabia, in April 2014 with primary amenorrhoea, virilisation and a lack of secondary sex characteristics. As female external genitalia were present at birth, she had been raised as a female. Magnetic resonance imaging revealed no uterine or ovarian tissue in the pelvis and the presence of a scrotal sac. She was diagnosed with 5-α-reductase type 2 deficiency, a 46,XY disorder of sexual development. Typically, affected males have pseudovaginal perineoscrotal hypospadias and ambiguous genitalia at birth. Individuals who have been raised as female manifest characteristics of virilisation at puberty, including deepening of the vocal tone, phallus enlargement, scrotal hyperpigmentation and increased muscle mass.