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.

Omentin-1 Levels in Hypothyroid Patients with Autoimmune Thyroiditis.

OBJECTIVE: To determine Omentin-1 in hypothyroid patients with autoimmune thyroiditis compared to controls. STUDY DESIGN: Observational study. Place and Duration of the Study: Department of Internal Medicine and Endocrinology, University of Health Sciences, Antalya Training and Research Hospital, Turkiye, between August 2017 and March 2020. METHODOLOGY: The study included 63 newly diagnosed hypothyroid patients with autoimmune thyroiditis and 40 healthy volunteers. Body mass index, fasting blood glucose, homeostasis model assessment for insulin resistance, lipid profile, thyroid function tests, thyroid autoantibodies, and omentin-1 levels were determined before and after treatment with levothyroxine sodium in all participants. RESULTS: Omentin-1 was significantly higher in the control subjects [15.05 (12.12-18.06) ng/ml] than in the hypothyroid patients with autoimmune thyroiditis [3.04 (2.39-3.76) ng/ml, p<0.001]. There was no significant difference in omentin-1 level in patients who achieved euthyroidism by treatment (p=0.26). In correlation analysis, serum omentin-1 level was found to correlate negatively with thyroid-stimulating hormone (r=-0.27, p=0.006), anti-thyroid peroxidase (r=-0.32, p=0.001), and anti-thyroglobulin antibodies (r=-0.26, p=0.007), whereas it correlated positively with free triiodothyronine (r=0.22, p=0.021) and free thyroxine (r=0.24, p=0.012). CONCLUSION: Lower omentin-1 levels in hypothyroid patients with autoimmune thyroiditis and its negative correlation with thyroid-stimulating hormone suggest that omentin-1 may play some role in hypothyroidism and autoimmune thyroiditis. KEY WORDS: Hypothyroidism, Chronic autoimmune thyroiditis, Omentin-1.

Hashimoto's thyroiditis worsens ovaries in polycystic ovary syndrome patients compared to Anti-Müllerian hormone levels.

BACKGROUND: The human ovary is the target of autoimmune attack in cases of autoimmune disorders, which can cause ovarian dysfunction. Due to the higher prevalence of Hashimoto's Thyroiditis (HT) in Polycystic Ovary Syndrome (PCOS) patients, we aimed to evaluate ovarian reserve and the effect of autoimmune exposure time on ovarian reserve in PCOS patients with HT by Anti-Müllerian hormone (AMH) levels. METHODS: Forty-six PCOS patients and 46 PCOS with HT diagnosed patients who are between 18 and 35 years old were recruited for this study. Detailed medical histories were obtained from all participants. Polycystic ovary image was evaluated and antral follicles were counted by transvaginal ultrasound. Modified Ferriman Gallwey score, body mass index, waist/hip ratio of the patients were examined. Hormonal, biochemical profiles and AMH levels of the patients were evaluated during the early follicular phase. The data of both groups were statistically analyzed with SPSS 18.0. RESULTS: 20 (43.5%) patients in the PCOS group were fertile, 8 (17.4%) patients in the PCOS + HT group were fertile, fertility rate was significantly lower in PCOS + HT group. The mean AMH value was 8.8 ± 8.8 in the PCOS + HT group and 12.4 ± 8.1 in the PCOS group and it was significantly lower in the PCOS + HT group (p = 0.043). AMH values were significantly negatively correlated with anti-thyroid peroxidase antibody (anti-TPO) level and the duration of HT. There was a significant positive correlation between the anti-TPO level and the duration of HT. CONCLUSiON: We pointed out that the coexistence of PCOS and HT, two prevalent diseases of reproductive age, further diminished ovarian reserve. More exposure of the ovaries to autoantibodies can cause ovarian destruction, similar to the thyroid gland like HT. Because of all these close relations with PCOS and thyroid dysfunctions, we recommend evaluating both thyroid autoantibodies and hormone levels in PCOS patients at the first visit. Patients with PCOS + HT should be monitored more closely to determine the fertility treatment options and control premature ovarian failure (POF) table.

Evaluation of Platelet Functions in Patients with Hashimoto's Thyroiditis Versus Healthy Controls: a Cross-Sectional Analysis.

BACKGROUND: To evaluate platelet functions in patients with Hashimoto's thyroiditis (HT) versus healthy controls. METHODS: Seventy-five patients with HT and 29 healthy controls were included in this study. Age, serum levels of thyroid stimulating hormone (TSH), free triiodothyronine (FT3), free thyroxine (FT4), anti-thyroglobulin (anti-Tg) antibody and anti-thyroid peroxidase (anti-TPO) antibody, platelet count, in vitro platelet aggregation and ATP release reaction tests were recorded and compared between HT and control groups. RESULTS: Median (IQR) serum levels for TSH (p = 0.001), anti-TPO (p = 0.001), and anti-Tg (p = 0.001) antibodies were significantly higher, while FT4 levels (p = 0.005) were significantly lower in patients with HT than in controls. Patients had lower levels of ADP-induced platelet aggregation (p = 0.05) and lower ristocetin-induced ATP release activity (p = 0.05) compared to controls. Platelet count was positively correlated with serum FT4 levels (r = 0.27, p < 0.05). Conclusions: We found decreased ADP-induced platelet aggregation and ristocetin-induced platelet release activity as well as a positive correlation of platelet count with FT4 levels in patients with HT. Our findings support the role of thyroid hormone status and autoimmunity in the association between HT and platelet aggregation and secretion functions.

Dopamine Agonist-Induced Impulse Control Disorders in Patients With Prolactinoma: A Cross-Sectional Multicenter Study.

CONTEXT: Dopamine agonist (DA)-induced impulse control disorder (ICD) in patients with prolactinomas is not sufficiently known. OBJECTIVE: To evaluate the prevalence of DA-induced ICDs and possible risk factors related to these disorders in patients with prolactinoma. DESIGN, SETTING, AND PARTICIPANTS: This is a cross-sectional multicenter study involving 308 patients with prolactinoma followed up in tertiary referral centers who received at least three months of DA therapy. DA-induced ICDs (pathological gambling, hypersexuality, compulsive shopping, and compulsive eating) and impulsivity were assessed using the Questionnaire for Impulsive-Compulsive Disorders in Parkinson Disease and the Barratt Impulsiveness Scale-11, respectively. Patients were evaluated in terms of parameters related to ICD development. RESULTS: Any ICD prevalence was 17% (n = 51). Hypersexuality was most common (6.5%). Although any ICD and hypersexuality were more common in male patients (P = 0.009, P < 0.001, respectively), compulsive eating was more common in female patients (P = 0.046). Current smoking, alcohol use, and gambling history were more frequent (P = 0.033, P = 0.002, P = 0.008, respectively) in patients with any ICD. In Barratt Impulsiveness Scale-11 total, attentional, motor, and nonplanning scores were higher in patients with any ICD (P < 0.001). Current smoking and alcohol use were more frequent (P = 0.007, P = 0.003, respectively) and percentage increase of testosterone levels at last visit was higher (P = 0.021) in male patients with prolactinomas with hypersexuality. CONCLUSION: Any ICD may be seen in one of six patients with prolactinoma who are receiving DA therapy. Endocrinology specialists should be aware of this side effect, particularly in male patients with a history of gambling, smoking, or alcohol use.

Serum nesfatin-1 levels are decreased in pregnant women newly diagnosed with gestational diabetes

ABSTRACT Objective To investigate serum nesfatin-1 levels at 24-28 weeks of pregnancy in women newly diagnosed with gestational diabetes and determine the association of nesfatin-1 with several metabolic parameters. Subjects and methods Forty women newly diagnosed with gestational diabetes at 24-28 weeks of pregnancy and 30 healthy pregnant women matched in age and gestational week were included in this cross-sectional study. Serum nesfatin-1 levels were analyzed using ELISA, and the relationship between nesfatin-1 and several metabolic parameters were assessed. Results Serum nesfatin-1 levels were found to be lower in women with gestational diabetes compared to the pregnant women in the control sample (p = 0.020). Multiple linear regression analysis revealed that nesfatin-1 was lower in participants with gestational diabetes independently from gestational age, BMI, HOMA-IR, fasting plasma glucose, and age. In correlation analysis, the only variable that was found to have a statistically significant correlation with nesfatin-1 was gestational age (p = 0.015, r = 0.30). Conclusion Lower nesfatin-1 levels in women with gestational diabetes compared to the control group at 24-28 weeks of gestation draws attention to nesfatin-1 levels in gestational diabetes and motivates further research in this area.

Serum survivin increases in prolactinoma.

BACKGROUND: Prolactinoma is the most common adult pituitary adenoma. Survivin is a member of the family of inhibitors of apoptosis proteins. Its expression is observed in many tumors. Survivin expression has shown in prolactinoma tissue before but no study exists showing serum survivin level. The aim of the present study was to investigate serum survivin levels in patients with prolactinoma and demonstrate its value in diagnosis of the disease. METHODS: The group of patients consisted of 25 women, aged from 17 to 51 years. As a control group, 21 healthy women, aged from 22 to 45 years were included. Twenty patients had microprolactinoma, while five patients had macroprolactinoma. All patients had received dopamine agonist treatment. Serum survivin levels were measured in all of the groups. RESULTS: Survivin levels were significantly higher in prolactinoma patients compared to controls (19.04 (10 - 38) pg/mL; 15.05 (8 - 22) pg/mL; P = 0.042). There was no difference between microadenoma and macroadenoma patients in survivin levels (19.22 (10 - 38) pg/mL; 18.40 (16 - 22) pg/mL; P = 0.914). In correlation analysis, survivin was not correlated with other parameters. CONCLUSIONS: We consider that higher survivin levels might be a molecular marker predicting the presence of prolactinoma and may be useful for the diagnosis. But large-scale research is needed to clarify its role in diagnosis of prolactinoma patients.

Plasma nesfatin-1 levels are increased in patients with polycystic ovary syndrome.

BACKGROUND: Nesfatin-1 is a recently discovered neuropeptide derived from its precursor nucleobindin-2 (NUCB2) and has been implicated in the regulation of feeding and energy metabolism. It is located in the brain and also produced at the periphery and present in the plasma. However, its pathophysiological role in humans remains unknown. Polycystic ovary syndrome (PCOS) is commonly presented with obesity, insulin resistance, hyperandrogenemia and hirsutism. AIM: To characterize serum nesfatin-1 levels in PCOS women and determine association of nesfatin-1 with metabolic parameters. MATERIALS AND METHODS: It is a cross-sectional study of 55 PCOS and 28 healthy women matched in age, in a university hospital setting. Anthropometric, hormonal, metabolic parameters and nesfatin-1 blood levels were determined. RESULTS: Nesfatin-1 levels were significantly higher in PCOS group compared with the controls 371.43 ± 2.50 versus 275.55 ± 1.74 pg/mL. Multivariate logistic regression analysis that contains: nesfatin-1, body mass index and homeostasis model assessment index revealed significant correlation of nesfatin-1 with the existence of PCOS (p < 0.05). CONCLUSIONS: Higher nesfatin-1 levels in PCOS women compared to control group may suggest a possibility that nesfatin-1 may play some role in the PCOS.

Increased total Renin levels but not Angiotensin-converting enzyme activity in obese patients with polycystic ovary syndrome.

OBJECTIVE: To investigate the renin-angiotensin-aldosterone system and angiotensin-converting enzyme (ACE) activity in patients with polycystic ovarian syndrome (PCOS). SUBJECTS AND METHODS: In this case-control study, 41 obese (PCOS) women and 29 healthy controls, matched for age and body mass index, were enrolled. Anthropometric, metabolic, and hormonal patterns, including plasma aldosterone, plasma renin, and ACE activity, were measured in each subject. RESULTS: Plasma renin levels were significantly higher in PCOS patients (19.7 ± 14.5 µg/ml) compared with controls (12.9 ± 9.0 µg/ml, p < 0.05). ACE activity and aldosterone levels did not significantly differ between both groups (p = 0.15 and p = 0.18, respectively). Analysis of PCOS patients showed a significant correlation of fasting insulin levels with levels of renin (r = 0.305, p < 0.01) and free testosterone (r = 0.384, p = 0.001). Similarly, homeostasis model assessment index was positively correlated with total renin concentrations (r = 0.366, p < 0.01) and free testosterone (r = 0.352, p < 0.01). CONCLUSION: Obese PCOS women had higher total renin levels, but not ACE activity and aldosterone levels, related to insulin resistance compared with controls.

Serum fibroblast growth factor 21 levels in polycystic ovary syndrome.

AIM: This study was designed to measure serum fibroblast growth factor 21 (FGF21) levels in patients with polycystic ovary syndrome (PCOS) and healthy subjects. METHODS: A total of 37 women were evaluated. Serum levels FGF21, glucose, lipid profile, hormones (follicle-stimulating hormone, luteinising hormone, oestradiol, testosterone, thyroid stimulating hormone, prolactin and insulin) were determined in 24 PCOS (15 subjects of PCOS BMI < 25 kg/m2, 9 subjects of PCOS BMI ≥ kg/m2) and 13 control group (BMI < 25 kg/m2). RESULTS: Serum FGF21 levels were higher in the PCOS group [99.5 (173.7) pg/ml] than in the control group [52.0 (88.0) pg/ml]. LH and T are significantly higher in PCOS cases (respectively; p < 0.05, p < 0.01). A positive correlation was found between FGF21 and luteinising hormone and testosterone (respectively; r = 0.43 p = 0.007, r = 0.38, p = 0.02). Multivariate discriminant analysis showed that BMI, triglyceride, HOMA-IR, fasting glucose with rise of FGF21 were found significant in PCOS. CONCLUSION: Our study indicates that FGF21 in cases with PCOS exhibit an increase along with the increase of BMI and also has a positive correlation with LH and T. Further studies are required to clarify the aetiology and effects of FGF21 in women with PCOS.