Delayed diagnosis in Vitamin D-dependent rickets type II results in severe skeletal deformities.

Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1,25-dihydroxyvitamin D 1,25(OH)2D. We aimed to investigate two cases of VDDR-II. Case 1 was of a 14-year old male, presenting with bone pains, bowing of legs, multiple bone deformities, and fractures since childhood. On examination, Chvostek's and Trousseau's signs were positive, and there was no alopecia. Case 2 was a 15-year old male who presented with pain in both legs since childhood and difficulty in walking lately. Upon investigation, it was found that bowing of legs, and Chvostek's and Trousseau's signs were positive. Both cases had severe hypocalcaemia, normal/low phosphate levels, and high alkaline phosphatase (ALP). Vitamin D levels were normal, and 1,25(OH) Vitamin D was very high, thus confirming the diagnosis of VDDR II. Both of the cases highlight a tremendous delay in diagnosis, resulting in severe adverse skeletal outcomes.

Burden of Elevated Body Mass Index and Its Association With Non-Communicable Diseases in Patients Presenting to an Endocrinology Clinic.

Introduction In the last 45 years, the worldwide rate of obesity has risen by nearly three-folds. Globally, 650 million adults are obese and more than 1.9 billion are overweight. The estimated prevalence of overweight and obesity in Pakistan was found to be 25% and obesity prevalence alone was 10.3% using the Asian-specific body mass index (BMI) criteria. According to the World Health Organization, overweight and obesity increase the risk of non-communicable diseases (NCDs). Objectives The aim of this retrospective observational study was to determine the burden of elevated BMI and its association with NCDs among patients presenting to a private endocrinology clinic. Study design This was a retrospective observational study conducted at Medicell Institute of Diabetes, Endocrinology & Metabolism (MIDEM), and the study duration was two years. Methodology Medical records of the patients who visited MIDEM from January 2017 to December 2018 were reviewed. Patients' data such as age (in years), gender, height (in cm), and weight (in kg), along with primary complaints and comorbidities were retrieved. BMI was calculated by dividing weight (in kg) by squared height (in m2). Results A total of 613 records were reviewed. The median age and BMI were 38 years (IQR=18 - 80 years) and 28.8 kg/m2 (IQR=24.6-33.05 kg/m2),respectively. Out of 613 patients, 10.6% were overweight and 72.6% were obese. Among 510 (83.2%) patients with elevated BMI (≥23 kg/m2), the most frequent associated NCDs were dyslipidemia (39.2%), diabetes (32.5%), hypertension (31.4%), thyroid disorders (28.6%), metabolic syndrome (25%), subfertility (14.9%), impaired glucose tolerance (12.7%) and autoimmune diseases (6.9%). On age- and gender-adjusted logistic regression model, the risk of dyslipidemia, hypertension, and diabetes was significantly higher in overweight and obese patients. Conclusion This study demonstrated a high prevalence of obesity in patients visiting the endocrinology clinic. Obesity was identified as an independent risk factor for dyslipidemia, hypertension, and diabetes. Future studies are suggested to determine the burden of obesity and establish its association with NCDs in the general population.

SGLT 2 Inhibitors; glycemic control, weight loss and safety profile in patients with type 2 Diabetes, at Medicell Institute (MIDEM).

BACKGROUND & OBJECTIVE: Sodium glucose co-transporter-2 inhibitors (SGLT 2 inhibitors) are newer anti-hyperglycemic agents, which improve glycemic control independent of insulin secretion with a low risk of hypoglycemia. This study aimed to assess the efficacy of SGLT 2 inhibitors in terms of glycemic control, weight reduction and safety profile in our patients with type 2 Diabetes (T2D). METHODS: This is a prospective analysis, conducted at Medicell Institute of Diabetes, Endocrinology and Metabolism (MIDEM), Karachi Pakistan from January 2018 till July 2019. This study included patients with T2D, who were treated with SGLT 2 inhibitors add on to other anti-diabetic drugs. Baseline and follow up weight, BMI, HbA1c, blood pressure (BP), renal function and side effect profile was assessed. RESULTS: Study included 140 patients; 53% females and 47% males. Mean Age was 55.6 ± 10.3 years. Mean weight at baseline was 81.5 ±16.5 kg. Mean duration of T2D was 10.3 ± 6.75 years, with a mean HbA1C at baseline of 9.1± 1.6%. Follow up data was available for 90 patients at the time of analysis. HbA1C improved considerably to 7.6± 0.9 (P< 0.001) and mean weight reduced to 78.5 ± 16.1 kg (P≤0.003), at first follow-up. CONCLUSION: Dapagliflozin and Empagliflozin offer a significant additional drug in improving glycemic control with the additional advantage of weight loss and hypoglycemia safety.

A CASE OF COMPLEX HEMATOMA FORMATION AFTER INSTITUTION OF ACS PROTOCOL IN A PATIENT WITH UNTREATED PRIMARY HYPOPARATHYROIDISM.

OBJECTIVE: We report an unusual case of untreated hypoparathyroidism in which the patient presented with a prolonged QT interval and unusual bleeding after the institution of acute coronary syndrome (ACS) protocol. METHODS: A 53-year-old female presented with sudden pain and diffuse tightness in the abdomen/limbs and profuse sweating for a few hours. Patient was admitted under cardiology services and ACS protocol was instituted. RESULTS: After 2 days of admission, she developed severe abdominal pain and distention, which was due to large hematomas in the bladder wall, rectus sheath, and retroperitoneal area. These hematomas were surgically drained, but the abdominal wall could not be closed due to gut distention and stiffness of the abdominal wall; a Bogota bag was applied for closure. The patient was shifted to oral calcium after 12 days of intravenous calcium and vitamin D replacement. Abdominal closure was done several weeks later as a follow-up procedure. CONCLUSION: This case illustrates the neglected areas of the impact of hypoparathyroidism; the effects of chronic hypocalcemia on the cardiovascular system and coagulation cascade.