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.

Serum betatrophin levels are reduced in patients with full-blown polycystic ovary syndrome.

Betatrophin is defined as a new marker in glucose homeostasis and lipid metabolism. We aimed to investigate the role of serum betatrophin in full-blown polycystic ovary syndrome (PCOS) patients and 47-aged healthy women, 51 full-blown PCOS patients were included in this cross-sectional study. Betatrophin concentrations were significantly lower in PCOS group and displayed a positive correlation only with serum tryglyceride in control group (p < .05). A cutoff level (464.5 ng/L) was determined for betatrophin according to Receiver Operating Characteristic curve. Using this value, 64.7% of PCOS patients were classified as below the cutoff and in this group betatrophin was found to correlate negatively with fasting glucose, fasting insulin, and homeostasis model assessment of insulin resistance (p = .038, p = .020, and p = .014, respectively), and positively with total testosterone (p = .041). In the rest of PCOS cases (35.3%) who had betatrophin higher than cutoff, positive correlation was found with low-density lipoprotein cholesterol (p = .009). In conclusion, betatrophin levels are reduced in full-blown PCOS patients who had worse metabolic phenotype.

Hounsfield unit value has null effect on thyroid nodules at 18F-FDG PET/CT scans.

OBJECTIVES: Detection rate of thyroid nodules is increasing with the use of new imaging modalities, especially in screening for malignancies. Positron emission tomography/computed tomography (PET/ CT)-positive thyroid nodules should be differentiated for malignancy to avoid unnecessary operations and further follow-up. Most trials evaluate the role of SUVmax, but there is no definitive information about the utility of Hounsfield unit (HU) values for prediction of malignancy. This study aimed to evaluate the HU values beside SUVmax for detecting malignancy risk of PET/CT-positive thyroid nodules. SUBJECTS AND METHODS: Results of 98 cancer patients who had fine needle aspiration biopsy (FNAB) for thyroid nodules detected on PET/CT between January 2011 and December 2015 were assessed. The FNABs and surgical pathological results were recorded. RESULTS: FNABs revealed benign results in 32 patients (32.7%), malignant in 18 (18.4%), non-diagnostic in 20 (20.4%), and indeterminate in 28 (28.5%). Twenty-four patients underwent thyroidectomy. The mean HU values were not significantly different in benign and malignant nodules (p = 0.73). However, the mean SUVmax was significantly higher (p < 0.001) in malignant ones. Area under curve (AUC) was 0.824 for SUVmax; the cut-off value was over 5.55 (p < 0.001), with 80% sensitivity, 84.5% specificity. CONCLUSIONS: Our current study demonstrated that HU value does not add any additional valuable information for discriminating between malignant and benign thyroid nodules. We also defined a SUV cut-off value of 5.55 for malignant potential of thyroid nodules detected on PET/CT Arch Endocrinol Metab. 2018;62(4):460-5.

Hounsfield unit value has null effect on thyroid nodules at 18F-FDG PET/CT scans

ABSTRACT Objectives: Detection rate of thyroid nodules is increasing with the use of new imaging modalities, especially in screening for malignancies. Positron emission tomography/computed tomography (PET/ CT)-positive thyroid nodules should be differentiated for malignancy to avoid unnecessary operations and further follow-up. Most trials evaluate the role of SUVmax, but there is no definitive information about the utility of Hounsfield unit (HU) values for prediction of malignancy. This study aimed to evaluate the HU values beside SUVmax for detecting malignancy risk of PET/CT-positive thyroid nodules. Subjects and methods: Results of 98 cancer patients who had fine needle aspiration biopsy (FNAB) for thyroid nodules detected on PET/CT between January 2011 and December 2015 were assessed. The FNABs and surgical pathological results were recorded. Results: FNABs revealed benign results in 32 patients (32.7%), malignant in 18 (18.4%), non-diagnostic in 20 (20.4%), and indeterminate in 28 (28.5%). Twenty-four patients underwent thyroidectomy. The mean HU values were not significantly different in benign and malignant nodules (p = 0.73). However, the mean SUVmax was significantly higher (p < 0.001) in malignant ones. Area under curve (AUC) was 0.824 for SUVmax; the cut-off value was over 5.55 (p < 0.001), with 80% sensitivity, 84.5% specificity. Conclusions: Our current study demonstrated that HU value does not add any additional valuable information for discriminating between malignant and benign thyroid nodules. We also defined a SUV cut-off value of 5.55 for malignant potential of thyroid nodules detected on PET/CT Arch Endocrinol Metab. 2018;62(4):460-5

Mean Platelet Volume in Graves' disease: A Sign of Hypermetabolism Rather than Autoimmunity?

OBJECTIVE: To evaluate the impact of mean platelet volume (MPV) on predicting disease course among patients with Graves' disease (GD). METHODS: This retrospective study was performed between 2013-2016 at the Outpatient Endocrinology Clinic of Baskent University Faculty of Medicine, Adana hospital on 65 patients with GD. Among participants, 30 cases experienced thyrotoxicosis again during the first six months after discontinuing anti-thyroid drug (ATD) sessions that had been carried out for at least 12 months prior to stopping (Relapse group). We also observed 35 patients who exhibited normal thyroid functions within six months following ATD withdrawal (Remission group). MPV levels and thyroid function tests were recorded and total duration of ATD therapy was calculated for all participants. RESULTS: The mean MPV level that was measured at the time of drug withdrawal did not differ between groups, being 8.0±1.2 fL in the Relapse group vs. 8.0±1.0 fL in the Remission group (p=0.81). However, we found that the relapse MPV was higher than the withdrawal MPV in the Relapse group (9.2±1.3 fL) than it was in the Remission group (8.0±1.2 fL, p=0.00). CONCLUSIONS: Higher relapse MPV in Relapse group but similar MPV levels in both groups at ATD withdrawal may be attributed to hypermetabolism or hyperthyroidism rather than autoimmunity of GD. Abbreviations:BMI: Body mass index GD: Graves' disease MPV: Mean platelet volume TSH: Thyroid-stimulating hormone TRAbs: Thyrotropin receptor antibodies ATD: Anti-thyroid drug fT4: Free thyroxine fT3: Free triiodothyronine CBC: Complete blood count PTC: Papillary thyroid carcinoma.

Factors affecting lifespan following below-knee amputation in diabetic patients.

INTRODUCTION: Untreatable foot problems in diabetics may require lower extremity amputation, which has a high level of patient mortality. This high mortality rate is worse than most malignancies. The present study aimed to identify parameters that can be used to estimate survival in DM patients undergoing below-knee amputations for diabetic foot problems. MATERIALS AND METHODS: A total of 470 patients (299 males, 171 females) with a mean age of 64.32 years who underwent below-knee amputation for diabetic foot problems between 2004 and 2014 were enrolled in the study. The length of time from the operation to time of death was recorded in days. Patient details were obtained, including age during surgery, BMI, oral antidiabetic and insulin usage, dialysis therapy history, lower extremity endovascular intervention, previous amputation at the same extremity, the need for stump revision surgery during follow-up, and above-knee amputation at the same site. Biochemical test results of pre-operative HbA1c, ESR, and levels of CRP, BUN, and creatinine were also obtained. RESULTS: A total of 333 patients (70.9%) died and 137 (29.1%) survived post-surgery. Survival rates were 90% in the first 7 days, 84% in the first 30 days, and 64% after the first year. Patient median life expectancy post-surgery was 930 ± 106 days. Hemodialysis treatment (p = 0.001), endovascular intervention (p = 0.04), sex (p = 0.004), age (p = 0.001), BUN level (p = 0.001), and duration of insulin use (p = 0.003) were shown to be effective predictors of mortality. CONCLUSIONS: Life expectancy is low (<3 years) in DM patients requiring below-knee amputations for untreatable foot problems. Survival could be predicted by duration of insulin use, age, sex, and renal insufficiency. LEVEL OF EVIDENCE: Level IV, Therapeutic study.

Body Mass Index below Obesity Threshold Implies Similar Cardiovascular Risk among Various Polycystic Ovary Syndrome Phenotypes.

OBJECTIVE: The aim of this study was to determine the cardiometabolic risk factors in different polycystic ovary syndrome (PCOS) phenotypes. SUBJECTS AND METHODS: This cross-sectional study was performed between 2010 and 2011. Eighty-nine patients with PCOS and 25 age- and weight-matched healthy controls were included in the study. Patients were grouped using the Rotterdam 2003 criteria as: group 1, oligomenorrhea and/or anovulation (ANOV) and hyperandrogenemia (HA) and/or hyperandrogenism (n = 23); group 2, ANOV and polycystic ovaries (PCO; n = 22); group 3, HA and PCO (n = 22); group 4, ANOV, HA and PCO (n = 22); group 5, controls (n = 25). Laboratory blood tests for diagnosis and cardiometabolic risk assessments were performed. Insulin resistance (IR) was calculated in all patients with the homeostasis model assessment of IR (HOMA-IR) formula. An euglycemic hyperinsulinemic clamp test was performed on 5 randomly selected cases in each subgroup, making 25 cases in total, and indicated as the 'M' value (mg/kg/min), which is the total body glucose disposal rate. RESULTS: The mean BMl values of the groups were: group 1, 26.1 ± 5.3; group 2, 27.9 ± 5.2; group 3, 24.3 ± 4.2; group 4, 27.9 ± 7.5; group 5, 24.7 ± 5.2 (p > 0.05). There were no differences in the lipid profile, plasma glucose, HOMA-IR, insulin and M values between the groups (p > 0.05). Phenotypes with oligomenorrhea/anovulation (groups 1, 2 and 4) were more obese than group 3 (p = 0.039). CONCLUSIONS: The cardiometabolic risk profile was similar among the PCOS subgroups. This finding could be attributed to the mean BMl values, which, being below 30, were not within the obesity range. Obesity appeared to be an important determinant of high cardiovascular risk in PCOS.