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Background The prevalence of iron deficiency in the Lebanese pediatric population is unknown. The aim of this study is to estimate this prevalence in Lebanese schoolchildren and to assess the relation between iron status and related factors. Subjects/methods A total of 903 children aged 8-18 years (466 boys and 437 girls) were included in the study. Recruitment was done from ten schools with different SES levels and located in the Great Beirut and Mount Lebanon areas. Serum ferritin was measured in all participants and testosterone was measured only in boys using Immulite chemiluminescent assays. Results For the entire sample, the median serum ferritin concentration was 30.0 [19.8-44.8] ng/mL and the prevalence of iron deficiency (ferritin < 15 ng/mL) was 14.2%. Iron deficiency was higher in girls compared with boys (respectively, 20.8% and 7.9%). This prevalence varied with the SES (respectively, 11.6%, 11.9%, and 16.8% in high, middle, and low SES, p = 0.09). Iron deficiency increased with age (9.5%, 15.7%, and 17.5%, respectively, for the age groups 8-11, 12-14, and 15-18, p = 0.014) and did not differ between normal, overweight, and obese groups (p = 0.07). In boys, a significant positive correlation was observed between ferritin and total testosterone (rho = 0.150, p = 0.001). Conclusion The prevalence of iron deficiency is relatively low in Lebanon. Younger boys, menstruating girls, and children from low SES are more prone to iron deficiency, while BMI has no impact., Author(s): Ralph El Khoury [sup.1], Ghassan Sleilaty [sup.2], Marie-Hélène Gannagé-Yared [sup.1] Author Affiliations: (1) Department of Endocrinology, Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon (2) Department of Biostatistics and Clinical [...]

Background: For a better assessment of thyroid function, each laboratory should establish its own reference intervals (RI). In Lebanon, no previous study has been conducted to establish the reference values for thyroid function tests. Methods: This cross-sectional study included 301 volunteers aged between 18 and 65 years (65.8% women, 34.2% men), free from any thyroid pathology and any condition that could affect thyroid function tests. The reference intervals of thyroid-stimulating hormone (TSH), free T4 (FT4), free T3 (FT3), and total T3 (TT3) were measured on the Roche Cobas e411 machine. 39 subjects tested positive for thyroid peroxidase antibodies (TPOAb) and/or thyroglobulin antibodies (TGAb), were excluded from the study. Results: There was an increase in the 2.5th percentile for the TSH compared to the value provided by the manufacturer (from 0.27 to 0.53 mlU/L) as well as a decrease in the 97.5th percentile for the FT4, TT3, and FT3 (respectively, from 22 to 19.78 pmol/L for FT4, from 3.1 to 2.71 nmol/L for TT3, and from 6.80 to 6.10 pmol/L for FT3). Higher TT3 and FT3 values were noted in men compared to women (respectively, p = 0.068 and p < 0.0001). An age decrease in FT4 and FT3 was also observed (respectively, p = 0.045 and p < 0.0001). Conclusion: The established RI of thyroid function tests for the Lebanese population were significantly different from the values recommended by the manufacturer (Roche Diagnostics). Changing our RI values will allow a more accurate diagnosis of thyroid dysfunction. [ABSTRACT FROM AUTHOR]

Background. The purpose of the current study is to determine PTH reference values in vitamin-D-replete Lebanese adults using 2nd and 3rd generation PTH assays and to look at the factors that affect PTH variations. Methods. Fasting PTH was measured using 2nd and 3rd generation Diasorin PTH assays in 339 vitamin-D-replete healthy subjects aged 18 to 63 years (230 men and 109 women) who have normal calcium levels and an eGFR ≥60 ml/mn. 25-OH vitamin D (25(OH)D) was measured using the Diasorin assay. Results. For the 2nd PTH generation, median (IQR) levels were 48.9 (34.9–66.0) pg/ml, and its 2.5th–97.5th percentile values were 19.7–110.5 pg/ml for 25(OH)D values between 20 and 30 ng/ml, and 19.7–110.7 pg/ml for 25(OH)D values ≥30 ng/ml. For the 3rd PTH generation, the median (IQR) values were 23.9 (17.7–30.5) pg/ml, and its 2.5th–97.5th percentile values were, respectively, 9.2 and 50.2 pg/ml for 25(OH)D values between 20 and 30 ng/ml, and 8.4 and 45.4 pg/ml for 25(OH)D values ≥30 ng/ml. The median (IQR) serum 25(OH)D levels were 27.5 (23.8–32.7) ng/ml. 2nd and 3rd generation PTH values are strongly correlated (r = 0.96, p < 0.0001), but poorly concordant (Lin's concordance coefficient 0.365, 95% CI: 0.328–0.401) with observations beyond the 95% Bland–Altman limits of agreement. 2nd and 3rd generation PTH levels did not differ according to gender and were significantly correlated with age but not with 25(OH)D and serum calcium levels. Conclusion. Lebanese adult healthy subjects have higher 2nd and 3rd generation PTH levels compared with the reference range provided by the manufacturer. The reference range was not influenced by changing the 25(OH)D cutoff. The clinical significance of the higher PTH levels in our population should be investigated. [ABSTRACT FROM AUTHOR]

Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9). Familial hypercholesterolemia (FH) caused by mutation in the LDLR gene is the most frequent form of ADH. The incidence of FH is particularly high in the Lebanese population presumably as a result of a founder effect. In this study we characterize the spectrum of the mutations causing FH in Lebanon: we confirm the very high frequency of the LDLR p.Cys681X mutation that accounts for 81.5 % of the FH Lebanese probands recruited and identify other less frequent mutations in the LDLR. Finally, we show that the p.Leu21dup, an in frame insertion of one leucine to the stretch of 9 leucines in exon 1 of PCSK9, known to be associated with lower LDL-cholesterol levels in general populations, is also associated with a reduction of LDL-cholesterol levels in FH patients sharing the p.C681X mutation in the LDLR. Thus, by studying for the first time the impact of PCSK9 polymorphism on LDL-cholesterol levels of FH patients carrying a same LDLR mutation, we show that PCSK9 might constitute a modifier gene in familial hypercholesterolemia. © 2009 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

In Middle-Eastern countries, more particularly in Lebanon, the incidence of vitamin D deficiency has been found to be surprisingly high in schoolchildren and young individuals. However, the prevalence and risk factors for vitamin D inadequacy amongst Lebanese osteoporotic women seeking medical health care has never been studied. We analysed vitamin D-inadequacy risk factors among the 251 Lebanese postmenopausal osteoporotic women (from both Muslim and Christian communities) who participated in a vitamin D international epidemiological study. Vitamin D inadequacy prevalence (25-hydroxyvitamin D (25(OH)D) < 30 ng/ml) was 84·9 %. 25(OH)D was negatively correlated with BMI (r − 0·41; P < 0·001) and positively correlated with educational level (r 0·37; P < 0·001) and self-reported general health (r 0·17; P < 0·01). No significant correlation was found with age and no seasonal variation was observed. There was no significant correlation between 25(OH)D and sun exposure index or vitamin D-rich food consumption. However, 25(OH)D strongly correlated with vitamin D supplement intake (r 0·48; P < 0·0001). Muslim community participants had lower 25(OH)D levels compared with their Christian counterparts (P < 0·001). They also had higher BMI, lower educational level and vitamin D supplement consumption and followed more frequently a dress code covering the arms (P < 0·0001 for all variables). In a multivariate model, in Muslims, inadequate vitamin D supplements and a dress code covering the arms are the independent predictors of 25(OH)D inadequacy (P < 0·001 for both variables). However, in Christians, the predictors are inadequate vitamin D supplements, high BMI and low educational level (P < 0·001; P = 0·002 and P = 0·02 respectively). There is an urgent need to increase vitamin D supplement use in Middle-Eastern osteoporotic women, more particularly in those from the Muslim community. [ABSTRACT FROM PUBLISHER]

Background: The purpose of the current study is to determine PTH reference values in vitamin-D-replete Lebanese adults using 2 nd and 3 rd generation PTH assays and to look at the factors that affect PTH variations., Methods: Fasting PTH was measured using 2 nd and 3 rd generation Diasorin PTH assays in 339 vitamin-D-replete healthy subjects aged 18 to 63 years (230 men and 109 women) who have normal calcium levels and an eGFR ≥60 ml/mn. 25-OH vitamin D (25(OH)D) was measured using the Diasorin assay., Results: For the 2 nd PTH generation, median (IQR) levels were 48.9 (34.9-66.0) pg/ml, and its 2.5 th -97.5 th percentile values were 19.7-110.5 pg/ml for 25(OH)D values between 20 and 30 ng/ml, and 19.7-110.7 pg/ml for 25(OH)D values ≥30 ng/ml. For the 3 rd PTH generation, the median (IQR) values were 23.9 (17.7-30.5) pg/ml, and its 2.5 th -97.5 th percentile values were, respectively, 9.2 and 50.2 pg/ml for 25(OH)D values between 20 and 30 ng/ml, and 8.4 and 45.4 pg/ml for 25(OH)D values ≥30 ng/ml. The median (IQR) serum 25(OH)D levels were 27.5 (23.8-32.7) ng/ml. 2 nd and 3 rd generation PTH values are strongly correlated ( r  = 0.96, p < 0.0001), but poorly concordant (Lin's concordance coefficient 0.365, 95% CI: 0.328-0.401) with observations beyond the 95% Bland-Altman limits of agreement. 2 nd and 3 rd generation PTH levels did not differ according to gender and were significantly correlated with age but not with 25(OH)D and serum calcium levels., Conclusion: Lebanese adult healthy subjects have higher 2 nd and 3 rd generation PTH levels compared with the reference range provided by the manufacturer. The reference range was not influenced by changing the 25(OH)D cutoff. The clinical significance of the higher PTH levels in our population should be investigated., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2020 Marie-Hélène Gannagé-Yared et al.)

Background: Heterozygous mutations in the IGF1 receptor (IGF1R) gene lead to partial resistance to IGF1 and contribute to intrauterine growth retardation (IUGR) with postnatal growth failure. To date, homozygous mutations of this receptor have not been described., Subject: A 13.5-year-old girl born from healthy first-cousin parents presented with severe IUGR and persistent short stature. Mild intellectual impairment, dysmorphic features, acanthosis nigricans, and cardiac malformations were also present., Methods: Auxological and endocrinological profiles were measured. All coding regions of the IGF1R gene including intron boundaries were amplified and directly sequenced. Functional characterization was performed by immunoblotting using patient's fibroblasts., Results: IGF1 level was elevated at 950NG/ML (+7 S.D.). Fasting glucose level was normal associated with high insulin levels at baseline and during an oral glucose tolerance test. Fasting triglyceride levels were elevated. sequencing of the IGF1R gene led to the identification of a homozygous variation in exon 2: c.119G>T (p.Arg10Leu). As a consequence, IGF1-dependent receptor autophosphorylation and downstream signaling were reduced in patient's fibroblasts. Both parents were heterozygous for the mutation., Conclusion: The homozygous mutation of the IGF1R is associated with severe IUGR, dysmorphic features, and insulin resistance, while both parents were asymptomatic heterozygous carriers of the same mutation.

Vitamin D inadequacy is highly prevalent in Lebanon in young adults, school children and postmenopausal osteoporotic women. However, this prevalence has not been previously studied in university students. Three hundred and eighty-one students (mean age 23.9 +/- 3.9 years), randomly recruited from Saint-Joseph University, were included in this cross-sectional study (201 males and 180 females). Recruitment was performed across all seasons. The mean 25 hydroxyvitamin D (25(OH)D) was 31 +/- 12A ng/ml. 25(OH)D was inversely correlated with BMI and waist circumference (r = -0.18 and r = -0.19,p < 0.001 for both variables). 25(OH)D was significantly different between the winter season and the other seasons (p = 0.023, p = 0.001 and p < 0.0001 for spring, summer and fall respectively). 25(OH)D was lower in men compared to women (29.01 +/- 11.23 versus 33.2 +/- 13A, p < 0.01). This gender difference disappears after adjustment for both season and BMI. In addition, the inverse relation between 25(OH)D and BMI was non significant in the female population. In a stepwise multilinear regression analysis using 25(OH)D as a dependent variable, season and BMI were the independent predictors of vitamin D levels (p < 0.0001 and p = 0.001 respectively). Our results suggest that, in a population of high educational level, vitamin D status is better compared to other subgroups of the Lebanese population. In addition, we found, after adjustment for BMI and season, no gender difference in 25(OH)D levels while the winter season and a high BMI negatively affect vitamin D status.

Little is known about calcium and vitamin D intakes in Middle Eastern countries, where the prevalence of hypovitaminosis D is high. This study identifies major sources of calcium and vitamin D in the Lebanese diet, examines lifestyle factors that may influence intake of these nutrients and investigates the relationship between nutritional or lifestyle factors and parathyroid hormone (PTH). Three hundred sixteen young healthy volunteers aged 30 to 50 (men, non-veiled and veiled women) were recruited from different rural and urban Lebanese community centers. Food frequency questionnaire was used to evaluate the consumption of vitamin D and calcium-rich foods. We also measured serum PTH levels. Mean daily calcium and vitamin D intake were respectively 683.8 +/- 281.2 mg and 100.6 +/- 71.0 IU. Daily vitamin D sources were divided as follows: 30.4 +/- 46.4 IU from milk and dairy products, 28.2 +/- 26.3 IU from meat and poultry, 25.8 +/- 25 IU from fish, 8.5 +/- 8.6 IU from eggs, and 7.8 +/- 14.3 IU from sweets (respectively 30.2%, 28%, 25.6%, 8.4% and 7.7% of the total vitamin D intake). Mean daily calcium from animal and vegetable sources were respectively 376.3 +/- 233.6 mg and 307.9 +/- 118.5 mg. Animal/total calcium intake ratio was 52% and was only statistically significantly higher in urban people compared to rural ones. Multivariate analysis showed that male sex and urban residence were independent predictors of both vitamin D and calcium intakes (p < 0.01 and p < 0.01 respectively). In addition, veiling was an independent predictor of low vitamin D intake (p < 0.05) and a high body mass index (BMI) was an independent predictor of low calcium intake (p < 0.05). Finally, PTH was inversely correlated with vitamin D intake and the animal/total calcium intake ratio (r = -0.18 and r = -0.22, p < 0.01), while no significant results were achieved for the vegetable calcium. In a multivariate model, urban living, female gender, low vitamin D and calcium intakes, low animal/total calcium intake ratio, and high BMI, are independent predictors of hyperparathyroidism. The deficient nutritional status of vitamin D and calcium in Lebanon justify the implementation of dietary public health measures. People at most risk for secondary hyperparathyroidism should be advised to increase their dietary calcium (mostly animal calcium) and vitamin D, to take supplements, or to increase their sun exposure.