International Journal of Endocrinology and Metabolism
Volume:12 Issue: 3, Jul 2014

There is evidence in support of low bone density in young patients with disorders of phenylalanine metabolism; however, little is known about muscle and fat mass in these patients, especially in those with mild hyperphenylalaninemia (mHPA).. We aimed to evaluate body composition of children and adolescents with early-diagnosed disorders of phenylalanine metabolism..Patients and The study was conducted in the Institute of Child Health, which is the national center that performs newborn screening. Bone, muscle, and fat mass of 48 patients with phenylketonuria (PKU) and 32 patients with mild mHPA, aged five to 18 years, were compared to 57 age- and sex-matched controls. Dual energy X-ray absorptiometry was used for this purpose.. Compared to controls, bone mineral density (BMD) was lower in patients with PKU (mean total body BMD z score, 0.11; P = 0.03) and in those with mild mHPA (mean lumbar BMD z score, -0.34; P = 0.01). Lean body mass and fat mass were not significantly affected in the study group. Comparison between the two patients groups did not reveal any difference in body composition profiles; however, pubertal status appeared important for within-group comparisons. Fat mass was significantly increased in teenagers with PKU, which was more evident in those with poor dietary compliance irrespective of gender (fat mass z score, 0.66; P = 0.018). Finally, positive correlations were found not only between bone, muscle, and fat mass in both groups, but also between fat mass and Phenylalanine levels in patients with PKU (r, 0.46; P = 0.001).. Bone mineral density appears suboptimal in young patients with disorders of phenylalanine metabolism. Adolescents seemed more prone to obesity, especially when their dietary adherence was poor, whereas muscle mass was not considerably affected. To ensure healthier bones and less fat content, close follow-up as well as proper lifestyle advice is needed..

Nonclassical congenital adrenal hyperplasia (CAH) is characterized by sufficient cortisol and aldosterone production at the cost of androgen overproduction. Hydrocortisone or dexamethasone in supraphysiological doses are current treatment; however, their downside is suppression of endogenous cortisol production resulting in corticosteroid dependency. We aimed to treat children with nonclassical CAH with a ultralow-dose dexamethasone to normalize androgen levels, without a detrimental effect on endogenous cortisol production.. We recruited five patients diagnosed with nonclassical CAH on the basis of clinical presentation, biochemical analyses, and genetic testing. Anthropometric as well as biochemical parameters and bone age were measured on a regular basis. During treatment, an adrenocorticotropin (ACTH) stimulation test was performed. Outcome measures were normalization of androgens and deceleration of the bone age advancement with sufficient endogenous cortisol response. Androgen levels were normalized in all patients resulting in a deceleration of the bone age advancement. Cortisol stress response remained normal in four out of five patients. Only one patient needed hydrocortisone stress dosing.. According to this case series, it seems that ultralow-dose dexamethasone in treatment of nonclassical CAH would be a promising novel treatment strategy. The advantage of this treatment strategy is that adverse effects of hyperandrogenism can be reversed while preserving the endogenous cortisol stress response..

Few studies have focused on patients’ characteristics that affects acute kidney injury (AKI) after total knee replacement surgery (TKR).. The primary objective of this retrospective study was to identify patients’ characteristics associated with AKI after TKR..Patients and Between January 2008 and December 2009, 659 patients with a mean age of 67.1 years (range, 39-99) underwent TKA at Regional Hospital Knee and Hip Institute. Retrospective chart review was done to identify patients’ characteristics that were associated with AKI after TKR. Logistic regression was used to evaluate AKI.. AKI occurred in 21.9% of patients. AKI risk decreased between 2008 and 2009 (odds ratio, 0.55; 95% CI, -0.37 to 0.82) but increased with age (P < 0.001), diabetes mellitus (DM), and angiotensin converting enzyme inhibitors (ACEI)/angiotensin receptor blockers (ARB) use (OR, -1.6; 95% CI, -1.0 to 2.5; and OR, -1.5, 95% CI, -1.0 to 2.3, respectively). However, the effects of DM and ACEI/ARB use were not independent; when both were included in the regression model, neither was statistically significant, and both ORs were smaller than combined OR.. When examined separately, both DM and preoperative ACEI/ARB use increased the risk of AKI; however these factors were correlated and were not independent predictors of significantly increased risk. Patients with DM have higher tendency to develop AKI and hence, preoperative renal risk stratification should be done in all patients with DM..

Acute lymphoblastic leukemia (ALL) is the most common malignancy of childhood. Patients with ALL commonly present with easy bruising and infections due to medullary involvement. The extra medullary involvements of ALL manifests as hepatosplenomegaly, lymphadenopathy, and testicular enlargement. Among extramedullary manifestations of the ALL, thyroid involvement is rare. Herein, we reported a case of ALL that manifested as a thyroid nodule.. An 18-year-old young man with a thyroid nodule presented without any other symptom or sign. The excisional biopsy of the nodule was planned by the surgeon. After two months of lost to follow-up, the patient returned with a complaint of continuous bleeding after a tooth extraction. Peripheral blood smear (PBS) study and bone marrow aspiration proposed ALL and the flow cytometry confirmed the diagnosis. The R-Hyper-CVAD induction chemotherapeutic regimen (rituximab in combination with cyclophosphamide, vincristine, doxorubicin, and dexamethasone) was used for treatment. Interestingly, thyroid sonography and Tc99m scan showed resolution of the thyroid nodule after chemotherapy.. In this patient, poor interdisciplinary communication and the rarity of this manifestation led to a delayed diagnosis. Therefore, we insist on more careful clinical examinations, reassessment of unusual FNA reports, and closer communication between clinicians and pathologists in such cases. This approach would lead to accurate and earlier diagnosis and would prevent unnecessary interventions..

Menarche is considered as a milestone in the women’s reproductive life. Most existing studies on factors influencing menarcheal age had cross-sectional designs and their finding were controversial.. We aimed to determine some factors affecting the age at menarche in a cohort study with an average of ten-year follow-up; the study was conducted within the framework of Tehran Lipid and Glucose Study (TLGS).. For the purpose of the present study, we recruited all the females aged 12 to 18 years participated in TLGS whose menarche had not begun at the initiation of the study, but occurred during their follow-up. The effect of premenarcheal status of various factors including socioeconomic and anthropometric parameters, physical activity, energy expenditure, and exposure to tobacco smoke on menarcheal age was explored.. The mean of age at menarche was 13.06 ± 1.24 years. There were significant statistical associations between age of the participants’ mothers at menarche (r = 0.66, P < 0.001), maternal education (r = -0.04, P = 0.002), and body mass index (BMI) before menarcheal (r = 0.25, P = 0.027) with age at menarche. There was no significant correlation between age at menarche, with either of maternal employment, premenarcheal physical activity, energy expenditure, and passive smoking. Among various factor influencing menarcheal age, premenarcheal BMI is modifiable, and considering its significance, could prevent early or late menarches..

Subclinical hypothyroidism (SCH) is a metabolic disorder characterized by elevated TSH level but normal T4 level. Some previous studies suggest that SCH is associated with inflammation.. The present study aimed to compare lipid serum levels in SCH patients and normal participants, also explore possible association between SCH and the two inflammatory markers hs-CRP and PLA2-IIA..Patients and This study was performed on 77 women aged 20-45 (39 with SCH and 38 in the control group). TSH and T4 levels were measured by electrochemiluminescenceassay. Lipid profiles were analyzed using enzymatic-colorimetric methods. Hs-CRP and PLA2-IIA were determined using the ELISA method. IBM SPSS 19.0 was used for statistical analysis.. Serum levels of TG, cholesterol, and LDL were higher in the SCH group than the control group. However, there was no significant difference between the two groups for HDL level. Likewise, no difference was observed for the serum level of hs-CRP. PLA2-IIA mean value was higher in the SCH group.. SCH is associated with increased level of PLA2-IIA, which is independent of BMI. The stronger association of SCH with PLA2-IIA than with hs-CRP indicates that PLA2-IIA is an inducer of inflammation while hs-CRP is not..

The extent of weight change is varied for specific foods. This highlights the effect of dietary quality and food choices on weight control.. The aim of this study was to examine the association between alterations in food group intake and weight change over a 3 years follow-up period.. This longitudinal study was conducted on 851 adults in the framework of Tehran Lipid and Glucose Study. Intakes of various foods were measured at baseline and after 3 years using a validated semi-quantitative food frequency questionnaire. Dietary data was grouped into 13 food groups. Alterations in food group intakes were categorized in tertiles; middle tertile of intake changes was considered as the reference category and the first and last tertiles of changes as increased and decreased intakes, respectively. Weight change per year of follow-up was the outcome of interest. Weight gain was defined as ≥ 0.5 kg/y, weight loss as ≤ -0.5 kg/y and stable weight as > -0.5 to < 0.5 kg/y. Multinomial logistic regression was used with stable weight as the reference group.. In men, weight loss was significantly predicted only by decreased intake of added sugars (OR: 2.21, 95% CI: 1.06-4.63). In women, weight gain was significantly predicted by decreased intake of whole grains (OR: 1.92, 95% CI: 1.11-3.31) and weight loss was predicted by decreased intake of vegetables (OR: 0.44, 95% CI: 0.21-0.91).. Alterations in consumption of whole grains, vegetables, and added sugars are associated with body weight change, suggesting that it could be helpful in weight control..

Overt hypothyroidism is associated with abnormalities of lipid metabolism, but conflicting results regarding the degree of lipid changes in subclinical hypothyroidism (SCH) exist.. The aim of this study was to assess differences in lipid profile parameters between subjects with and without SCH in a north Indian population..Patients and Serum lipid parameters of 70 patients with subclinical hypothyroidism and 100 age and sex matched euthyroid controls were evaluated in a cross-sectional study.. Mean serum total cholesterol (TC), triglycerides (TG) and very low-density cholesterol (VLDL) were significantly higher in patients with SCH than controls (P < 0.05). Mean TC, TG and low-density cholesterol (LDL) concentrations were higher in patients with serum thyroid stimulating hormone (TSH) greater than 10 mU/L than those with serum TSH equal to or less than 10 mU/L, but this difference was not statistically significant. No association was found between serum high-density cholesterol (HDL-C) concentration and serum TSH level.. High TC, TG and VLDL were observed in our patients with SCH..

Some observations suggested that magnesium supplementation could be helpful in the treatment of diabetic patients by improving glycemic control and preventing the development of diabetes-related complications.. To estimate the prevalence of hypomagnesaemia among obese patients with type 2 diabetes attending the National Center for Diabetes, Endocrinology and Genetics (NCDEG) in Amman, Jordan..Patients and A cross-sectional study was carried out at the National Center for diabetes, Endocrinology and Genetics (NCDEG) in Amman-Jordan. A total of 1105 patients with type 2 diabetes (51.9% females and 48.1% males) who attended this center between first of October 2011and end of February 2012 were included in the study. The mean age and duration of diabetes were 57.1 years and 5.1 years, respectively and the mean value of HbA1c was 7.9%. Our study also performed a comparison of the prevalence of hypomagnesaemia between our studied sample and 3600 individuals enrolled in the National Vitamin D study completed in Jordan in 2009. The obtained data included patients’ age, gender, smoking history, HbA1c level, comorbid history including hypertension, dyslipidemia, and presence of neuropathy and retinopathy.. Out of 1105 patients with type 2 diabetes, 210 patients (19%) (95% CI, 16.8%-21.4%) were hypomagnesaemic. Female gender, hypertension, statin therapy, HbA1c between 7-7.9% or ≥ 9% and patients with diabetes duration more than five years were independent risk factors for hypomagnesaemia. No association between hypomagnesaemia and age distribution, smoking history, neuropathy and retinopathy was found. In comparison with individuals enrolled in the National Vitamin D study, diabetic patients in this study had a much higher prevalence of hypomagnesaemia (19% vs. 0.7%) with odd’s ratio of 32 (95% CI, 21-48.2).. As the prevalence of hypomagnesaemia among patients with type 2 diabetes treated at the NCDEG was found to be 19% (95% CI, 16.8%-21.4%), we recommend periodic determination of magnesium level and appropriate magnesium replacement therapy particularly among the above defined groups..

Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women in reproductive age. In many cases, PCOS is associated with infertility and increased risk of miscarriage. Recent studies have detected the presence of several organ specific and nonspecific autoantibodies in women with PCOS.. The aim of this study was to evaluate the prevalence and levels of thyroid antibodies in euthyroid women with PCOS in Syria..Patients and This study included 56 euthyroid women with PCOS and 30 healthy women as a control group. PCOS was defined according to the revised 2003 Rotterdam criteria. Thyroid function was evaluated by measurement of serum TSH and FT4 levels. Antithyroid peroxidase and antithyroglobulin antibodies (anti-TPO and anti-TG, respectively) were detected as markers for thyroid autoimmunity. All parameters were measured using electrochemiluminescence immunoassay.. Women with PCOS had higher serum levels of anti-TPO in comparison to controls (39.9 ± 59.5 and 18.9 ± 11.2 IU/mL, respectively; P < 0.05) and no significant difference was found in serum levels of anti-TG, TSH, or FT4 between the two groups. Patients with PCOS had a higher prevalence of positive results for anti-TG and/or anti-TPO in comparison to controls (28.6% and 3.3%, respectively; P<0.05), anti-TPO alone (19.6% and 3.3%, respectively; P < 0.05) and anti-TG alone (21.4% and 3.3%, respectively; P < 0.05). No significant associations were found between antibodies and studied hormones.. High prevalence of thyroid antibodies in euthyroid patients with PCOS refers to the importance of investigation for thyroid autoimmune state in those patients..

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy among women of reproductive age that is linked to insulin resistance and obesity. While studies have shown that plasma levels of resistin and visfatin increase with obesity, the association between PCOS and these markers has not been described well.. This case-control study aimed to compare the serum levels of visfatin and resistin in women with PCOS in comparison with the healthy controls matched for age and body mass index (BMI)..Patients and A total of 80 women consisted of 40 women with PCOS and 40 matched eumenorrheic women without hyperandrogenism enrolled in the study. They were subcategorized into obese and normal-weight women according to their BMI. Serum visfatin and resistin levels were assessed using sandwich enzyme-linked Immunosorbent assay (ELISA).. Serum levels of resistin were higher among both obese and normal-weight women with PCOS in comparison with the controls (2.36 and 1.58 ng/mL in normal-weight women with PCOS and controls, respectively; and 2.10 and 1.91 ng/mL in obese women with PCOS and controls, respectively). Serum visfatin levels was higher in both obese women with PCOS and controls (3.46 and 3.49 ng/mL PCOS and control groups, respectively) in comparison with normal-weight women in both groups (3.16 and 3.15 in PCOS and control groups, respectively); however; there were no statistically significant differences in serum resistin and visfatin levels between PCOS and control groups (P > 0.05).. While the expression of visfatin and resistin may be upregulated in women with PCOS, it is not translated at serum level..