Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.

BACKGROUND AND AIMS: Congenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide. METHODS: The medical records of 223 patients with all forms of CAH were evaluated in the study, which included 19 adult endocrinology clinics. A form inquiring about demographical, etiological, and genetic (where available) data of all forms of CAH patients was filled out and returned by the centers. RESULTS: Among 223 cases 181 (81.16%) patients had 21-hydroxylase deficiency (21OHD), 27 (12.10%) had 11-beta-hydroxylase deficiency (110HD), 13 (5.82%) had 17-hydroxylase deficiency (17OHD) and 2 (0.89%) had 3-beta-hydroxysteroid-dehydrogenase deficiency. 21OHD was the most prevalent CAH form in our national series. There were 102 (56.4%) classical and 79 (43.6%) non-classical 210HD cases in our cohort. The age of the patients was 24.9 ± 6.1 (minimum-maximum: 17-44) for classical CAH patients and 30.2 ± 11.2 (minimum-maximum: 17-67). More patients in the nonclassical CAH group were married and had children. Reconstructive genital surgery was performed in 54 (78.3%) of classical CAH females and 42 (77.8%) of them had no children. Thirty-two (50.8%) NCAH cases had homogenous and 31 (49.2%) had heterogeneous CYP21A2 gene mutations. V281L pathological variation was the most prevalent mutation, it was detected in 35 (55.6%) of 21OHD NCAH patients. CONCLUSION: Our findings are compatible with the current literature except for the higher frequency of 110HD and 17OHD, which may be attributed to unidentified genetic causes. A new classification for CAH cases rather than classical and non-classical may be helpful as the disease exhibits a large clinical and biochemical continuum. Affected cases should be informed of the possible complications they may face. The study concludes that a better understanding of the clinical characteristics of patients with CAH can improve the management of the disorder in daily practice.

Effect of vitamin D status on lipid profile in premenopausal women: a cross-sectional study.

High lipid levels play important roles in the pathogenesis of atherosclerosis and some authors suggest vitamin D deficiency as a risk factor for atherosclerosis. The aim of this study was to evaluate the effect of vitamin D status on lipid profile in premenopausal women. PATIENTS AND METHODS: A total of 315 nonsmoking premenopausal female volunteers without diabetes mellitus were included in the study. Patients were divided into four subgroups. The groups were as follows: patients with less than or equal to 12 ng/ml (group 1, n=126) vitamin D levels, between 20 and 12 ng/ml (group 2, n=48), between 30 and 20 ng/ml (group 3, n=21), and at least 30 ng/ml (group 4, n=120) vitamin D levels. Total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), triglyceride (TG), and non-HDL-C levels of the four groups were compared. RESULTS: HDL-C levels of group 4 were the highest (P=0.03), and TG and non-HDL-C levels of group 1 were the highest (P=0.04, 0.016, respectively) in all groups. There was no significant difference between serum parathormone, calcium, and phosphorus levels of the four groups (P=0.778, 0.121, 0.184, respectively). In unadjusted analysis, 25-hydroxy vitamin D levels were found to be correlated negatively with BMI (P=0.0005), LDL-C (P=0.01), and non-HDL-C (P=0.003) and correlated positively with HDL-C levels (P=0.006). After adjustments for age, sex, BMI, and log parathormone levels were made, no correlation was found between 25-hydroxy vitamin D and lipid (TC, LDL-C, HDL-C, and TG) levels (P=0.91, 0.06, 0.95, 0.79, respectively). CONCLUSION: There may be an association between vitamin D insufficiency and dyslipidemia. However, this association may depend on obesity.

The relationship between glycated hemoglobin and blood glucose levels of 75 and 100 gram oral glucose tolerance test during gestational diabetes diagnosis.

OBJECTIVE: The diagnosis of gestational diabetes mellitus (GDM) is an important issue in terms of prevention of maternal and fetal complications. In our study we aimed to evaluate the relation of HbA1c and blood glucose levels of 75 and 50-100 gram oral glucose tolerance test (OGTT) in pregnant patients who were screened for GDM. MATERIALS AND METHODS: The parameters of 913 pregnant women screened for GDM are evaluated retrospectively. The two steps screening with 50-100 gram OGTT were used in 576 patients. The remaining 337 patients were screened with 75 gram OGTT. RESULTS: The HbA1c levels of patients having high blood glucose (≥153 mg/dl) levels at 2(nd) hour in 75 gram OGTT were significantly higher than patients having normal blood glucose levels at 2(nd) hour of 75 gram OGTT (P=0.038). Correlation analyses showed no significant relation between any blood glucose level of 100 gram OGTT and HbA1c level. Whereas in 75 gram OGTT 1(st) and 2(nd) hour blood glucose levels were found to have a significant relation with A1c levels (P=0.001, P=0.001 respectively). CONCLUSION: HbA1c may be used as an important tool in the diagnosis of GDM. But due to the variation of HbA1c in pregnant women and there is not an absolute cut-off level for A1c, it may be more reliable to evaluate HbA1c level together with the blood glucose levels in OGTT.

Application of alternative anthropometric measurements to predict metabolic syndrome.

OBJECTIVE: The association between rarely used anthropometric measurements (e.g., mid-upper arm, forearm, and calf circumference) and metabolic syndrome has not been proven. The aim of this study was to assess whether mid-upper arm, forearm, calf, and waist circumferences, as well as waist/height ratio and waist-to-hip ratio, were associated with metabolic syndrome. METHODS: We enrolled 387 subjects (340 women, 47 men) who were admitted to the obesity outpatient department of Istanbul Medeniyet University Goztepe Training and Research Hospital between September 2010 and December 2010. The following measurements were recorded: waist circumference, hip circumference, waist/height ratio, waist-to-hip ratio, mid-upper arm circumference, forearm circumference, calf circumference, and body composition. Fasting blood samples were collected to measure plasma glucose, lipids, uric acid, insulin, and HbA1c. RESULTS: The odds ratios for visceral fat (measured via bioelectric impedance), hip circumference, forearm circumference, and waist circumference/hip circumference were 2.19 (95% CI, 1.30-3.71), 1.89 (95% CI, 1.07-3.35), 2.47 (95% CI, 1.24-4.95), and 2.11(95% CI, 1.26-3.53), respectively. The bioelectric impedance-measured body fat percentage correlated with waist circumference only in subjects without metabolic syndrome; the body fat percentage was negatively correlated with waist circumference/hip circumference in the metabolic syndrome group. All measurements except for forearm circumference were equally well correlated with the bioelectric impedance-measured body fat percentages in both groups. Hip circumference was moderately correlated with bioelectric impedance-measured visceral fat in subjects without metabolic syndrome. Muscle mass (measured via bioelectric impedance) was weakly correlated with waist and forearm circumference in subjects with metabolic syndrome and with calf circumference in subjects without metabolic syndrome. CONCLUSION: Waist circumference was not linked to metabolic syndrome in obese and overweight subjects; however, forearm circumference, an unconventional but simple and appropriate anthropometric index, was associated with metabolic syndrome and bioelectric impedance-measured visceral fat, hip circumference, and waist-to-hip ratio.

Mechanisms in endocrinology: vitamin D as a potential contributor in endocrine health and disease.

OBJECTIVE: It has been suggested that vitamin D may play a role in the pathogenesis of several endocrine diseases, such as hyperparathyroidism, type 1 diabetes (T1DM), type 2 diabetes (T2DM), autoimmune thyroid diseases, Addison's disease and polycystic ovary syndrome (PCOS). In this review, we debate the role of vitamin D in the pathogenesis of endocrine diseases. METHODS: Narrative overview of the literature synthesizing the current evidence retrieved from searches of computerized databases, hand searches and authoritative texts. RESULTS: Evidence from basic science supports a role for vitamin D in many endocrine conditions. In humans, inverse relationships have been reported not only between blood 25-hydroxyvitamin D and parathyroid hormone concentrations but also with risk of T1DM, T2DM, and PCOS. There is less evidence for an association with Addison's disease or autoimmune thyroid disease. Vitamin D supplementation may have a role for prevention of T2DM, but the available evidence is not consistent. CONCLUSIONS: Although observational studies support a potential role of vitamin D in endocrine disease, high quality evidence from clinical trials does not exist to establish a place for vitamin D supplementation in optimizing endocrine health. Ongoing randomized controlled trials are expected to provide insights into the efficacy and safety of vitamin D in the management of endocrine disease.

Gastroesophageal reflux symptoms in Turkish people: a positive correlation with abdominal obesity in women.

OBJECTIVE: Metabolic syndrome (MetS) is increasing around the world due to abdominal obesity with altered eating habits and decreased physical activity. The aim of this study was to determine the risk factors for gastroesophagial reflux disease (GERD) symptoms and the prevalence of GERD in patients with MetS. METHODS: Five hundred patients (MetS, n=300 and the control group, n=200) were enrolled in the study. A detailed questionnaire reflux symptoms and behavioral habits was performed. RESULTS: Sixty percent of the subjects were with MetS. GERD rate was significantly higher in the group with MetS compared to subjects without MetS (50.7% vs 26%). Women were more likely to have GERD in both groups (62.6% of women and 28.6% of men in the MetS group while corresponding rates were 37% vs 16.7% in the control group). Waist circumferences were found to be higher in female MetS patients with GERD. CONCLUSION: GERD is present approximately in every one of the two patients with MetS. Every patient who has MetS should be evaluated in terms of GERD symptoms.

Application of alternative anthropometric measurements to predict metabolic syndrome

OBJECTIVE: The association between rarely used anthropometric measurements (e.g., mid-upper arm, forearm, and calf circumference) and metabolic syndrome has not been proven. The aim of this study was to assess whether mid-upper arm, forearm, calf, and waist circumferences, as well as waist/height ratio and waist-to-hip ratio, were associated with metabolic syndrome. METHODS: We enrolled 387 subjects (340 women, 47 men) who were admitted to the obesity outpatient department of Istanbul Medeniyet University Goztepe Training and Research Hospital between September 2010 and December 2010. The following measurements were recorded: waist circumference, hip circumference, waist/height ratio, waist-to-hip ratio, mid-upper arm circumference, forearm circumference, calf circumference, and body composition. Fasting blood samples were collected to measure plasma glucose, lipids, uric acid, insulin, and HbA1c. RESULTS: The odds ratios for visceral fat (measured via bioelectric impedance), hip circumference, forearm circumference, and waist circumference/hip circumference were 2.19 (95% CI, 1.30-3.71), 1.89 (95% CI, 1.07-3.35), 2.47 (95% CI, 1.24-4.95), and 2.11(95% CI, 1.26-3.53), respectively. The bioelectric impedance-measured body fat percentage correlated with waist circumference only in subjects without metabolic syndrome; the body fat percentage was negatively correlated with waist circumference/hip circumference in the metabolic syndrome group. All measurements except for forearm circumference were equally well correlated with the bioelectric impedance-measured body fat percentages in both groups. Hip circumference was moderately correlated with bioelectric impedance-measured visceral fat in subjects without metabolic syndrome. Muscle mass (measured via bioelectric impedance) was weakly correlated with waist and forearm circumference in subjects with metabolic syndrome and with calf circumference in subjects without metabolic syndrome. ...

Is vitamin D deficiency an independent risk factor for obesity and abdominal obesity in women?

INTRODUCTION: Vitamin D has been determined to have some effects on b cell function and insulin sensitivity, and it is known that type 2 diabetes mellitus and hyperparathyroidism can cause obesity. The aim of our study was to investigate if vitamin D deficiency without diabetes mellitus and metabolic syndrome is associated with obesity and abdominal obesity. MATERIAL AND METHODS: The study included 276 healthy premenopausal women. To exclude other causes of obesity, postmenopausal women and subjects with diabetes mellitus and metabolic syndrome were excluded. Women were divided into two groups depending on their 25-hydroxyvitaminD(3) [25(OH)D(3)] levels: subjects with vitamin D deficiency (Group 1) and subjects without vitamin D deficiency (Group 2). Body mass index (BMI), waist circumference (WC), and waist-to-hip ratio (WHR) were compared between the two groups. RESULTS: BMI, WC, WHR, rates of obesity, and abdominal obesity according to WC and WHR of Group 2 were lower than those of Group 1 (p = 0.0005, p = 0.0001, p = 0.0045, p = 0.032, p = 0.002, p = 0.011, respectively). 25(OH)D(3) levels negatively correlated with BMIs (r = -0.480, p < 0.0001), WCs (r = -0.480, p < 0.0001) and WHRs (r = -0.312, p < 0.05). There were no differences between serum parathormone, calcium and phosphorus levels of Group 1 and 2 (p = 0.239, p = 0.354, p = 0.95, respectively). CONCLUSION: Vitamin D deficiency without diabetes mellitus and hyperparathyroidism may be associated with obesity and abdominal obesity.

Skin autoreactivity in Hashimoto's thyroiditis patients without urticaria: autologous serum skin test positivity correlation with thyroid antibodies, sonographical volume and grading.

Recent studies have shown an association between anti-thyroid antibodies and autologous serum skin test (ASST) positive urticaria patients. However, a connection between thyroid and this reliable skin test for mast cell autoreactivity, ASST, has not been reported yet. We investigated ASST in patients with Hashimoto's thyroiditis (HT) without urticaria and compared the results with laboratory and sonographical findings of HT. 154 HT patients, 100 healthy volunteers without HT as a first control group and 46 patients with multinodular goitre but without autoimmune thyroid disease as a second control group underwent testing with ASST. ASST was applied to these groups according to two criteria, first as ASST(new): autologous serum red wheal response 1.5 mm bigger than negative control; second as ASST(old): serum red wheal response 5 mm bigger than negative control accepted as positive. Free triiodothyronine (fT3), free thyroxine (fT4), thyroid-stimulating hormone (TSH), thyroid peroxidase antibody (anti-TPO) and thyroglobulin antibody (anti-Tg) levels were measured. ASST(old), ASST(new) scored positive in 51.3-60.4% of HT patients, with statistically significant differences. Thyroid volume grades were inversely proportional with ASST(old) and (new) positivity. Moderate (+) titers of anti-Tg in ASST(old) and (new) (+) cases were significantly higher than the same titers of anti-Tg in ASST(old) and (new) (-) cases. The prevalence of ASST positivity in HT patients was not affected by the following factors: gender, age at screening, laboratory measurements of thyroid function tests, anti-TPO antibodies and thyroid ultrasound (US) echogenicity. Positivity of ASST in HT has shown that there is a skin mast cell autoreactivity in HT patients independent of autoreactive chronic urticaria (ACU).

Prevalence of pituitary adenomas in macroprolactinemic patients may be higher than it is presumed.

One form of prolactin (PRL) is macroprolactin with high molecular mass. Many macroprolactinemic patients have no pituitary adenomas and no clinical symptoms of hyperprolactinemia, it is controversial whether macroprolactinemia is a benign condition that does not need further investigation and treatment. In this study, we aimed to compare macroprolactinemic patients (group I) with the true hyperprolactinemic patients (group II) for the presence of pituitary adenoma. We investigated 161 patients with hyperprolactinemia, whose magnetic resonance imaging records of the pituitary were taken. All patients were questioned for irregular menses, infertility and examined for galactorrhea. Patients were screened for macroprolactinemia by polyethylene glycol precipitation, and a recovery of ≤40% and normal monomeric PRL level was taken as an indication of significant macroprolactinemia. Of 161 patients with hyperprolactinemia, 60 (37.26%) had macroprolactinemia. PRL levels of group II were lower than those of group I (P = 0.011), although monomeric PRL levels of group II were higher than those of group I (P = 0.0005). Of 60 macroprolactinemic patients, 16 (26.7%) had pituitary adenomas. The prevalence of pituitary adenomas was lower in group I, compared with group II (P = 0.0005). No significant differences were found between the prevalences of irregular menses and infertility of group I and II (P = 0.084, P = 0.361). Prevalence of galactorrhea in group I was lower than that in group II (P = 0.048). Prevalence of pituitary adenomas in macroprolactinemic patients is lower compared with the true hyperprolactinemic patients, but may be higher than that found in other recent studies and in the general population.

Effects of thyroid autoimmunity on abdominal obesity and hyperlipidaemia.

BACKGROUND: Thyroid autoimmunity has been suggested as a risk factor for atherosclerosis independent of thyroid function in several studies. The aim of this study was to investigate whether thyroid autoimmunity had any effect on hyperlipidaemia, obesity and abdominal obesity independent of thyroid function. MATERIAL AND METHODS: 184 premenopausal female patients with Hashimoto's thyroiditis (HT) and 150 healthy premenopausal female volunteers as control group (CG) were included in the study. According to thyroid function status, the patients were divided into three subgroups: overt hypothyroid patients (ohp), subclinical hypothyroid patients (shp) and euthyroid patients (ep). Body mass index (BMI), waist to hip ratios, waist circumference (WC), and serum lipid levels of all the participants were determined. These parameters of ep were compared with those of ohp, shp and CG. Relationships among thyroid stimulating hormone (TSH), thyroid autoantibodies and lipid levels were investigated. RESULTS: There were no significant differences between serum total cholesterol and low density lipoprotein cholesterol (LDL-C) levels of ohp and ep with HT (P = 0.18, P = 0.07 respectively) and LDL-C levels of ep were higher than those of CG (P = 0.03, P = 0.042, respectively). Although TSH levels did not correlate with serum lipid levels, levels of anti-thyroid peroxidase antibody correlated with triglyceride levels and WCs (r = 0.158; P = 0.013, r = 0.128; P = 0.048 respectively) and negatively correlated with high density lipoprotein cholesterol (HDL-C) levels (r = -0.137; P = 0.031). Levels of anti-thyroglobulin antibody also correlated with triglyceride and nonHDL-C levels (r = 0.208; P = 0.007, r = 0.158; P = 0.043 respectively). CONCLUSION: Thyroid autoimmunity may have some effects on hyperlipidaemia and abdominal obesity independent of thyroid function.

Relative vitamin D insufficiency in Hashimoto's thyroiditis.

BACKGROUND: Vitamin D insufficiency, defined as serum levels of 25-hydroxyvitamin D [25(OH)D3] lower than 30 ng/mL, has been reported to be prevalent in several autoimmune diseases such as multiple sclerosis and type 1 diabetes mellitus. The goal of the present study was to assess whether vitamin D insufficiency is also a feature of Hashimoto's thyroiditis (HT). METHODS: We performed a prevalence case-control study that included 161 cases with HT and 162 healthy controls. Serum levels of 25(OH)D3, calcium, phosphorus, and parathyroid hormone were measured in all 323 subjects. RESULTS: The prevalence of vitamin D insufficiency in HT cases (148 of 161, 92%) was significantly higher than that observed in healthy controls (102 of 162, 63%, p < 0.0001). Among HT cases, the prevalence rate of vitamin D insufficiency showed a trend to be higher in patients with overt hypothyroidism (47 of 50, 94%) or subclinical hypothyroidism (44 of 45, 98%) than in those with euthyroidism (57 of 66, 86%), but the differences were not significant (p = 0.083). CONCLUSION: Vitamin D insufficiency is associated with HT. Further studies are needed to determine whether vitamin D insufficiency is a casual factor in the pathogenesis of HT or rather a consequence of the disease.

Pituitary infiltration by non-Hodgkin's lymphoma: a case report.

INTRODUCTION: Pituitary adenomas represent the most frequently observed type of sellar masses; however, the presence of a rapidly growing sellar tumor, diabetes insipidus, ophthalmoplegia and headaches in an older patient strongly suggests metastasis to the pituitary. Since the anterior pituitary has a great reserve capacity, metastasis to the pituitary and pituitary involvement in lymphoma are usually asymptomatic. Whereas diabetes insipidus is the most frequent symptom, patients can present with headaches, ophthalmoplegia and bilateral hemianopsia. CASE PRESENTATION: A 70-year-old woman with no previous history of malignancy presented with headaches, right oculomotor nerve palsy and diabetes insipidus. As magnetic resonance imaging revealed a sellar mass involving the pituitary gland and infundibular stalk, which also extended into the right cavernous sinus and sphenoid sinus, the patient underwent an immediate transsphenoidal decompression surgery. Her prolactin was 102.4 ng/ml, whereas her gonadotropic hormone levels were low. A low level of urine osmolality after overnight water deprivation, along with normal plasma osmolality suggested diabetes insipidus. Histological examination revealed that the mass had been the infiltration of a high grade B-cell non-Hodgkin's lymphoma involving respiratory system epithelial cells. Paranasal sinus computed tomography scanning and magnetic resonance imaging of the thorax and abdomen were performed. Since magnetic resonance imaging did not reveal any abnormality, after paranasal sinus computed tomography was performed, we concluded that the primary lymphoma originated from the sphenoid sinus and infiltrated the pituitary. Chemotherapy and radiotherapy to the sellar area were planned, but the patient died and her family did not permit an autopsy. CONCLUSION: Lymphoma infiltration to the pituitary is difficult to differentiate from pituitary adenoma, meningioma and other sellar lesions. To plan the treatment of lymphoma infiltration of the pituitary gland, it must be differentiated from other sellar lesions.