Raised 17-hydroxyprogesterone levels in congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) refers to autosomal recessive diseases resulting from deficiency of enzymes involved in the production of cortisol by the adrenal glands. This study was designed to determine the frequency of suspected congenital adrenal hyperplasia patients by evaluating the laboratory data of blood 17-OHP. The study was conducted at Chemical Pathology Section of Department of Pathology at the Aga Khan University, Karachi. The basic demographic data of 2282 subjects was recorded, screened for blood 17-OHP levels from January 2007 to December 2010. A cutoff of ≥ 4 ng/ml was considered as suggestive of CAH. The results showed 17-OHP levels ≥ 4 ng/ml were found predominantly among infants (14.4%) and in females (18.2%)

R990G Polymorphism of calcium sensing receptor gene Is associated with high Parathyroid Hormone levels in subjects with Vitamin D deficiency: a cross-sectional study

Single nucleotide polymorphisms (SNPs), R990G and A986S of the calcium sensing receptor (CaSR) gene, are shown to influence response of parathyroid hormone (PTH) in subjects with optimal vitamin D levels. This cross-sectional study was conducted in subjects with vitaminDdeficiency (VDD) to observe association’s betweenCaSR polymorphisms, plasma iPTH, and serumcalcium levels. Adult females ( = 140) with known VDD, intact parathyroid hormone (iPTH), and calcium levels were recruited for genotype analysis.The frequencies of the 986 alleles GG, GT, and TT were 68%, 25%, and 7%, respectively, whereas the frequencies of the 990 alleles AA, AG, and GG were 80%, 8.9%, and 11.1%, respectively.Thesubjects with GG genotype of R990G polymorphism had higher iPTH levels (148.65 versus 91.47 and 86.1 pg/mL for GG versus AA, AG, resp., = 0.008) and lower calcium levels (8.4 versus 9.04 and 9.07mg/dL for GG versus AA, AG, resp., = 0.002). No such association of A986S polymorphism with plasma iPTH or serum calcium levels was observed in the present study. Patients with VDD bearing the GG genotype of R990G SNPs are prone to have higher iPTH levels and lower calcium

Fibroblast growth factor 23 (FGF23) levels, phosphate Intake and its association with Indices of renal handling of phosphate in healthy volunteers

FGF23 is a novel phosphaturic hormone; we aimed to assess the FGF23 levels and its association with dietary phosphate intake and indices of renal handling of phosphate in this study. Prospective study was conducted in which dietary phosphate intake was assessed by food frequency questionnaire (FFQ) along with blood and spot urine samples were collected after overnight fast for determining serum phosphate, FGF23, fractional excretion of phosphate (FePO4 ) and tubular maximum for phosphate (TmP/GFR). FGF23 (C-Term) was measured by a sandwich ELISA. The mean dietary phosphate intake of eighty healthy adults (mean age of 29 ± 5 years) was 1220 ± 426 mg; median FGF23 was 49.9 RU/ml (IQR=33, 76) and mean FePO4 was 7 ± 4.7. Subjects were stratified into two groups according to serum phosphate levels. Significant difference was not found in dietary phosphate intake and FGF23 levels in the two groups. However, TmP/GFR and creatinine were significantly different in the two groups. FePO4 was high in both the groups. Overall a rising pattern of FGF23 levels was seen with increasing serum phosphate levels. Significant positive correlation was found between FGF23 and dietary phosphate (r=0.22, p\u3c0.05) and negative correlation was seen between FGF23 and FePO4 (r=-0.260, p\u3c0.05)

Vitamin D Deficiency in ambulatory patients

OBJECTIVE: To determine the frequency of subclinical vitamin D deficiency in an ambulatory care setting. METHODS: This was an observational study which measured 25 vitamin D levels in medical clinic patients. Patients with chronic renal failure, known osteomalacia and rickets were excluded. A total of 119 patients were evaluated. They were divided in three diagnostic categories based on their serum 25 vitamin D levels. Those with levels below 8 ng/ml were categorized to have severe deficiency, levels between 8 - 20 ng/ml as moderate deficiency and levels of 21-35 mg/ml as mild deficiency. RESULTS: Of 119 patients, 92% had vitamin D deficiency. Their mean age was 44.3 +/- 18.3 years, with female to male ratio of 5:1. Sixty two percent (62%) had severe, 24% moderate and 8% had mild deficiency. Nearly half of all these patients (including those with severe deficiency) were asymptomatic. Whereas a low serum calcium, elevated phosphate and elevated alkaline phosphatase were reflective of severe deficiency. It was only an elevated iPTH that correlated with mild to moderate deficiency. CONCLUSION: Subclinical vitamin D deficiency is extensive in the adult ambulatory care patients. Serum calcium, phosphate and alkaline phosphatase are poor markers of moderate to mild deficiency. A serum 25 vitamin D level and an iPTH are better biofunctional markers of this deficiency

Illuminating the dark side-vitamin D status in different localities of Karachi

Abstract This study was conducted to determine the association between place of residence (grouped into neighbourhoods), and 25-hydroxy D (25[OH]D) levels of individuals of Karachi. Addresses of 4788 individuals tested for 25[OH]D at the clinical laboratory of the Aga Khan University (AKU), Karachi, from January 2007 to June 2008 were reviewed. The neighbourhoods were categorized into ten, based on locality attributes. A high overall prevalence (74%) of vitamin D deficiency (VDD) was observed. There was a significant difference (p-value \u3c 0.01) between mean log 25[OH]D levels amongst neighbourhoods grouped according to distinct housing structure attributes and localities. A high frequency of VDD in all the studied localities of an urban city warrant dietary vitamin D supplementation and food fortification