A radiomic signature based on magnetic resonance imaging to determine adrenal Cushing's syndrome.

Purpose: The aim of this study was to develop radiomics signature-based magnetic resonance imaging (MRI) to determine adrenal Cushing's syndrome (ACS) in adrenal incidentalomas (AI). Material and methods: A total of 50 patients with AI were included in this study. The patients were grouped as nonfunctional adrenal incidentaloma (NFAI) and ACS. The lesions were segmented on unenhanced T1-weighted (T1W) in-phase (IP) and opposed-phase (OP) as well as on T2-weighted (T2-W) 3-Tesla MRIs. The LASSO regression model was used for the selection of potential predictors from 111 texture features for each sequence. The radiomics scores were compared between the groups. Results: The median radiomics score in T1W-Op for the NFAI and ACS were -1.17 and -0.17, respectively (p < 0.001). Patients with ACS had significantly higher radiomics scores than NFAI patients in all phases (p < 0.001 for all). The AUCs for radiomics scores in T1W-Op, T1W-Ip, and T2W were 0.862 (95% CI: 0.742-0.983), 0.892 (95% CI: 0.774-0.999), and 0.994 (95% CI: 0.982-0.999), respectively. Conclusion: The developed MRI-based radiomic scores can yield high AUCs for prediction of ACS.

Novel Classification of Acromegaly in Accordance with Immunohistochemical Subtypes: Is There Really a Clinical Relevance?

According to the recent studies, immunohistochemical subtypes of growth hormone (GH) secreting adenomas have been considered as a predictive factor in determining the clinical outcomes including biochemical, radiologic, and endocrine remission. In a 20 year-of time period, acromegaly patients who were treated and followed at the Endocrinology Department of our University Hospital were screened for the study. Of total 98 patients, 65 patients who had been operated by transsphenoidal surgery and having postoperative specimens were included. Postoperative specimens of the surgery of the patients were classified into 3 groups based on the histochemical characteristics (densely, sparsely, and mixed). Parasellar extensions of pituitary tumors were classified into the five grades according to Knosp classification. The patients were investigated and evaluated for postoperative clinical progress, remission rates, comorbidities regarding with the histopathological patterns. Of total 65 patients, 31 were classified as densely granulated (group 1), 32 were classified as sparsely granulated (group 2), and 2 patients were assessed as mixed granulated (group 3). There was no difference between groups for age and gender. Pre-treatment of adenoma size in all groups was correlated with each other and the frequency of macroadenoma (1 vs. 2, 77.4 vs. 84.3%) was higher in two groups. Although mean initial GH levels in group 1 was higher than the other groups (p=0.03), IGF1 levels (age and gender matched) were similar in each group. Adenomas in all groups demonstrated noninvasive radiological characteristics (Knosp grade 0-1-2). Ki-67 proliferation index of both groups (64.5 vs. 50%) was predominantly 1%. With a similar follow-up period, the endocrine remission rates (GH<1 µg/l) in groups were 64 vs. 69%, respectively. In conclusion, classification according to immunohistochemical subtypes of growth hormone secreting adenomas may not be a qualified parameter to evaluate patients with patterns of aggressiveness, clinical outcomes, or treatment response.

Regional variability of modified Ferriman-Gallwey scorring in premenopausal healthy women in Southern Turkey.

ObjectiveAlthough modified Ferriman-Gallwey (mF-G) scorring has been the gold standard for assessing hirsutism, also known that this scorring could show variability according to ethnicity. Hence, false positive hirsutism diagnosis and unnecessary anti-androgen therapy can prescribed. It was aimed to disclose the regional characteristics of this scorring in healthy women living in Southern Turkey.Methods360 women between 18 and 50 years of age were randomly screened. Their medical history, including ovulation periods, gestation(s), family history, known drug use was obtained. Physical examination with mF-G scoring and serum hormone measurements were performed. Women with hirsutism who scored ≥ 8 were further investigated for any underlying disease or cause of hirsutism. After these investigations, the women were divided into three groups according to the mF-G ≥ 8 score and evaluated. Group A (n = 59) had an mF-G ≥ 8 and, revealed an underlying disease causing hirsutism; group B (n = 42) had an mF-G ≥ 8, but no underlying disease responsible for hirsutism; and the third group (Group C, n = 259) had an mF-G ≤ 8 and thus, no signs of hirsutism.ResultsThe mean mF-G scores of three groups were 12.78 ± 4.4, 11.48 ± 4.6, and 5.53 ± 3.4, respectively. Of the 59 (16.1%) women in Group A, 46 (44.2%) were diagnosed as polycystic ovary syndrome (PCOS), 8 (7.7%) had idiopathic hyperandrogenism, 7 (6.7%) had nonclassic congenital adrenal hyperplasia, and 1 (1%) had a prolactinoma. When compared to group B, group A women had significantly decreased fertility (p = .001) and menstrual irregularities (p = .001).ConclusionsIn this study, results revealed a significant rate of healthy women (11.6%) who had an mF-G ≥ 8, but no underlying disease causing hirsutism yet were considered hirsute according to their mF-G cutoff. Also, the majority of the studied women (71.9%) living in Southern Turkey were found to have a hair-pattern similar to the European Women. Therefore, we suggest that regional and ethnical body-hair patterns should be considered before prescribing anti-androgen therapy.

Awareness of Vaccination against Respiratory Tract Diseases, Including Pneumonia, Influenza, and COVID-19 in Patients with Diabetes Mellitus.

Patients with diabetes have an increased risk of severe acute respiratory infections, and vaccination is their life-saving option. This study aimed to investigate the interest and knowledge of patients about influenza, pneumonia, and COVID-19(coronavirus disease 2019) vaccines. Materials. We handed out a questionnaire to patients with diabetes who were admitted to the endocrinology clinic between April and August 2021. The questionnaire collected information on demographic data, knowledge about respiratory tract disease vaccines, and hesitancy about vaccines. Results. Four hundred twenty-four patients (female = 256, male = 168) enrolled in the study. In this study, 148 (34.9%) participants were vaccinated against pneumonia, 155 (36.6%) against flu, and 312 (73.6%) against COVID-19. In addition, antivaccination sentiment was recorded in 8.7% of patients with diabetes. We found that participants in the study primarily rely on doctors as the source of information about vaccines (doctor (46.7%), nurse (1.2%), television (8.7%), friend/neighbour (8.7%), and others (2.6%)). The rate of vaccination was statistically higher than the presence of comorbid diseases. Conclusions. We examined the vaccine awareness of patients with diabetes and investigated factors affecting it. It was determined that vaccination awareness is affected by many factors, especially comorbid diseases and educational status. The study showed that patients primarily relied on doctors as their source of information for vaccination. Doctor-centered vaccination promotion programmes can increase the rate of vaccination.

Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism.

PURPOSE: Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal or compromised olfaction (Kallmann syndrome). Several semaphorins are known potent modulators of GnRH, olfactory, and vomeronasal system development. In this study, we investigated the role of Semaphorin-3F signaling in the etiology of IHH. METHODS: We screened 216 IHH patients by exome sequencing. We transiently transfected HEK293T cells with plasmids encoding wild type (WT) or corresponding variants to investigate the functional consequences. We performed fluorescent IHC to assess SEMA3F and PLXNA3 expression both in the nasal region and at the nasal/forebrain junction during the early human fetal development. RESULTS: We identified ten rare missense variants in SEMA3F and PLXNA3 in 15 patients from 11 independent families. Most of these variants were predicted to be deleterious by functional assays. SEMA3F and PLXNA3 are both expressed along the olfactory nerve and intracranial projection of the vomeronasal nerve/terminal nerve. PLXNA1-A3 are expressed in the early migratory GnRH neurons. CONCLUSION: SEMA3F signaling through PLXNA1-A3 is involved in the guidance of GnRH neurons and of olfactory and vomeronasal nerve fibers in humans. Overall, our findings suggest that Semaphorin-3F signaling insufficiency contributes to the pathogenesis of IHH.

Possible role of the receptor of advanced glycation end products (RAGE) in the clinical course of prostate neoplasia in patients with and without type 2 diabetes mellitus.

AIM: The expression of the cognate receptor of advanced glycation end products (RAGE) in malignant tissues of patients with type 2 diabetes has been suggested as a co-factor determining the clinical course and prognosis. We aimed to investigate the relationship between RAGE expression and clinicopathological features of prostate neoplasia. METHODS: Tissue samples of 197 patients, 64 (24 patients with type 2 diabetes and 40 controls) with benign prostate hyperplasia (BPH) and 133 (71 patients with type 2 diabetes and 62 controls) with localised or metastatic prostate cancer (LPCa/MetPCa) were included in the study. The expression of RAGE in prostate specimens was studied immunohistochemically. RAGE scores were determined according to the extent of immunoreactivity and staining intensity. RESULTS: RAGE expression in BPH group (patients with type 2 diabetes and controls) was negative. Patients with both LPCa and MetPCa had significantly higher scores than those with BPH (P < .001). The mean RAGE scores of patients with type 2 diabetes LPCa and MetPCa were 4.71 ± 3.14 and 4.97 ± 3.69. The mean scores of control LPCa and MetPCa were 1.52 ± 1.87 and 1.69 ± 1.58, respectively. The scores of patients with type 2 diabetes LPCa and MetPCa were significantly higher than those of control LPCa and MetPCa (P = .01 and P < .001, respectively). CONCLUSION: We found higher RAGE expression levels in malignant prostate neoplasia than in BPH. As expected, patients with diabetes had higher scores than control patients. Disease progression and survival parameters were worse in patients with high RAGE levels. RAGE expression may be a useful biomarker for the diagnosis and prognosis of prostate cancer.

Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism.

Idiopathic hypogonadotropic hypogonadism (IHH) can be divided into two major forms, normosmic IHH and Kallmann syndrome (KS). Genetic mutations are responsible for the majority of IHH. PLXNA1 has recently been implicated in the GnRH neuron migration and the etiology of KS. We aimed to investigate the prevalence and associated phenotypes of PLXNA1 variants in a large cohort of IHH patients. We screened the whole exome data of 215 IHH patients in a single center for causative PLXNA1 variants. Our studies showed eight novel (p.Arg836His, p.Lys1451Arg, p.Val287Met, p.Val536Ile, p.Ser1850Arg, p.Ile1701Val, p.Arg319Trp, and p.Pro485Leu) and two previously described (p.Arg528Trp and p.Gly720Glu) heterozygous PLXNA1 variants in nine affected individuals from seven unrelated families. Only three of nine patients were anosmic (KS) while the remaining patients showed normal olfactory function (nIHH). Seven of nine patients (77.7%) harbored additional one or two variants in other nIHH/KS-associated genes, including PROKR2, IGSF10, HS6ST1, SEMA3E, CCDC141, FGFR1, NRP1, POLR3A, and SRA1. Our findings indicate that PLXNA1 variants cause not only anosmic but also normosmic IHH with a relatively high prevalence (3.9%). Heterozygous missense PLXNA1 variants appear to be involved together with other IHH gene variants in bringing about the IHH disease phenotype.

Carotid Intima-Media Thickness as the Cardiometabolic Risk Indicator in Patients with Nonfunctional Adrenal Mass and Metabolic Syndrome Screening.

BACKGROUND: Our purpose was to show the association of adrenal incidentaloma and metabolic syndrome in consideration of the studies and to detect the increase in the carotid intima-media thickness which is regarded as the precessor of atherosclerosis. MATERIAL/METHODS: Eighty-one patients who were diagnosed with adrenal mass were included in the study. Hormonal evaluation, insulin rezistance measurement with the HOMA-IR and 1-mg DST were performed of all patients. The patients were classified as follows: mass size <3 cm (K1) and mass size of at least 3 cm (K2). Echocardiography and carotid intima-media thickness of the patients were measured using B-mode ultrasound. Thirty-three healthy individuals were enrolled as the control group. RESULTS: Mass size of 64.19% K1, while mass size of the remainder (35.81%) K2 was calculated. Five of the patients with adrenal mass were detected to have subclinical Cushing syndrome. The remaining 76 patients were accepted as nonfunctional. It was seen with regard to metabolic and biochemical parameters that plasma glucose (p=0.01), insulin (p=0.00) and triglyceride (p=0.012) values of all patients were significantly high compared to those of the control group. It was detected that measured heart rate (p=0.00), end-diastolic diameter (p=0.02), end-systolic diameter (p=0.014) and carotid intima-media thickness (p=0.00) values of the patients with adrenal mass were significantly higher than those of the healthy control group. CONCLUSIONS: We found that the increased insulin resistance, increased risk of cardiovascular disease with the increase in the thickness of carotid intima-media and diastolic disfunction parameters, although the patients with adrenal incidentaloma are nonfunctional.

Tinea pedis and onychomycosis frequency in diabetes mellitus patients and diabetic foot ulcers. A cross sectional - observational study.

OBJECTIVE: Impaired cellular immunity and reduced phagocytic function of polymorphonuclear leukocytes facilitate the development of skin fungal and bacterial infections due to uncontrolled hyperglycemia in diabetic patients. In our study, we aimed to assess onychomycosis and/or tinea pedis frequency in diabetic patients, and effects on the development of chronic complications, particularly foot ulcer. METHODS: We included 227 diabetic patients in the study. Forty-three patients had diabetic foot ulcer. We screened and recorded demographic characteristics, HbA1c levels of patients, and presence of complications We examined patients dermatologically, and collected samples by scalpel from skin between toes, and from sole, toe nail, and area surrounding nails from suspected to have fungal infection. RESULTS: Native positivity between toes was higher in men compared to women (p<0.05). We obtained significant relation between HbA1c elevation and native positivity between toes (p<0.05). Fungal infection between toes, at sole and toe nail significantly increased in patients with diabetic foot ulcer compared to patients without diabetic foot ulcer (p<0.05). Moreover, native positivity in patients with diabetic foot ulcer correlated with presence of fungal infection examination findings (p<0.05). CONCLUSION: Fungal infections were more frequently observed in the presence of poor glycemic control and peripheral vascular disease in diabetic patients in compliance with the literature, and the presence of fungal infection may also responsible for the development of foot ulcers.

Is Low-free Triiodothyronine (fT3) Associated with Increased Morbidity in Patients Admitted to Coronary Care Units?

BACKGROUND: The effects of thyroid hormone on patients hospitalized in coronary intensive care units are still controversial. Objective: We retrospectively examined thyroid hormone levels and their impact on cardiovascular morbidity in patients admitted to coronary intensive care units. METHODS: A total of 208 (Female/Male; 46.6%/53.4%) patients without any history of thyroid disease were enrolled and screened. Patients with specific heart disease and existing thyroid hormone parameters were included in the study. Low triiodothyronine syndrome is characterized by reduced serum total or free T3 (fT3) concentrations in normal free T4 (fT4) and TSH levels. RESULTS: The common diagnosis of the patients in the coronary care unit is acute coronary syndrome (n=59, 28.2 %) and heart failure (n=46, 23.3%). Patients were divided into two groups according to left ventricular ejection fraction percentages (LVEF ≤39% vs LVEF ≥40%). Plasma fT3 levels were significantly correlated with low LVEF (≤39%) (p =0.002). fT3 (r=-0.183, p =0.013) and hospitalization etiology (r=-0.161, p =0.023) were also the most critical parameters affecting the length of hospitalization. CONCLUSION: Low fT3 was associated with reduced ejection fraction and prolonged hospitalization, which may lead to potential morbidities in HF patients and may be useful in risk stratification and treatment strategies.

The Predictors of Postoperative Cerebrospinal Fluid Leak in Endoscopic Endonasal Pituitary Surgery: The Role of Tumor Volume.

Objectives Postoperative cerebrospinal fluid (Po-CSF) leak is still a challenging complication of endoscopic endonasal skull base surgery. However, data describing the predictive factors of Po-CSF leak in pure pituitary adenomas is lacking. Aim of this study is to determine the risk factors of Po-CSF leak in a pituitary adenoma group operated via pure transsellar endoscopic approach. Design This is a retrospective cohort study. Setting A single-center academic hospital. Participants Patients operated for a pituitary adenoma between 2015 and 2021 and followed up until June 2022 were included. Main Outcome Measures Demographics, comorbidities, imaging, and outcome were recorded. Univariate and multivariate logistic regression analyses were used to determine the risk factors of Po-CSF leak. Results Of the total 170 patients with a mean age of 47.5 ± 13.8 (min: 15; max: 80), 11 (6.5%) had Po-CSF leak. Univariate analysis revealed age, diabetes mellitus (DM), and tumor volume as predictors of Po-CSF leak. According to the receiver operating characteristic analysis, 7.5 cm 3 of tumor volume was found to be a good cutoff value with a sensitivity of 82% and a specificity of 75%. Hence, multivariable logistic regression model adjusted by age showed that a tumor volume of > 7.5 cm 3 (odds ratio [OR]: 22.9; 95% confidence interval [CI]: 3.8-135.9, p = 0.001) and DM (OR: 8.9; 95% CI: 1.7-46.5; p = 0.010) are strong independent risk factors of Po-CSF leak in pure endoscopic endonasal pituitary surgery. Conclusion Besides younger age and DM, a cutoff value for tumor volume > 7.5 cm 3 is the most remarkable risk factor for Po-CSF leak in pure endoscopic pituitary surgery. These patients should carefully be assessed preoperatively and potential preemptive surgical strategies should be taken into consideration to avoid complications.

Changes in Acute Coronary Syndrome Clinic after the Devastating Earthquake in Türkiye.

BACKGROUND: We aimed to investigate the clinical and angiographic characteristics of patients with acute coronary syndrome (ACS) who survived this devastating earthquake and were admitted to our hospital in Antakya/Türkiye. METHODS: We retrospectively examined the impact of the earthquake on the occurrences of acute coronary syndromes in Antakya/Türkiye. All 248 consecutive patients with ACS, also survivors of the earthquake in Antakya, were enrolled as the earthquake group. The earthquake group was created from patients hospitalized between February and June in 2023 after the earthquake. In total, 209 consecutive ACS patients who were hospitalized in our cardiology clinic in similar months of 2022 named as the control group. RESULTS: Patients admitted before the earthquake were more hospitalized with multivessel disease compared to after the earthquake group (P <.001). Myocardial infarction with non-obstructive coronary artery disease (MINOCA) was the main reason for the significant increase rate of ACS after the earthquake. The earthquake patient group had lesser diabetes mellitus than the control group (P <.001). The risk of men suffering from ACS after an earthquake is approximately 2.1 times higher than women (P =.023). Those with a history of revascularization are approximately 1.8 times more likely to have ACS after an earthquake (P =.05). The risk of experiencing ACS after an earthquake is approximately 3.5 times higher for those with a family history than for those without (P <.001). CONCLUSION: Effects of the devastating earthquake on the heart are the increase in MINOCA patients triggered by great sudden environmental stress and the decrease in diabetes due to worsening nutritional conditions, respectively.

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.

Arterial stiffness and pulse wave reflection in young adult heterozygous sickle cell carriers.

OBJECTIVE: Pulse wave velocity (PWV) and aortic augmentation index (AI) are indicators of arterial stiffness. Pulse wave reflection and arterial stiffness are related to cardiovascular events and sickle cell disease. However, the effect of these parameters on the heterozygous sickle cell trait (HbAS) is unknown. The aim of this study is to evaluate the arterial stiffness and wave reflection in young adult heterozygous sickle cell carriers. MATERIALS AND METHODS: We enrolled 40 volunteers (20 HbAS cases, 20 hemoglobin AA [HbAA] cases) aged between 18 and 40 years. AI and PWV values were measured by arteriography. RESULTS: Aortic blood pressure, aortic AI, and brachial AI values were significantly higher in HbAS cases compared to the control group (HbAA) (p=0.033, 0.011, and 0.011, respectively). A statistically significant positive correlation was found between aortic pulse wave velocity and mean arterial pressure, age, aortic AI, brachial AI, weight, and low-density lipoprotein levels (p=0.000, 0.017, 0.000, 0.000, 0.034, and 0.05, respectively) in the whole study population. Aortic AI and age were also significantly correlated (p=0.026). In addition, a positive correlation between aortic PWV and systolic blood pressure and a positive correlation between aortic AI and mean arterial pressure (p=0.027 and 0.009, respectively) were found in HbAS individuals. Our study reveals that mean arterial pressure and heart rate are independent determinants for the aortic AI. Mean arterial pressure and age are independent determinants for aortic PWV. CONCLUSION: Arterial stiffness measurement is an easy, cheap, and reliable method in the early diagnosis of cardiovascular disease in heterozygous sickle cell carriers. These results may depend on the amount of hemoglobin S in red blood cells. Further studies are required to investigate the blood pressure changes and its effects on arterial stiffness in order to explain the vascular aging mechanism in the HbAS trait population. CONFLICT OF INTEREST: None declared.

Newly-onset Autoimmune Diabetes Mellitus Triggered by COVID 19 Infection: A Case-based Review.

The devastating global pandemic Coronavirus disease 2019 (COVID 19) isolated in China in January 2020 is responsible for an outbreak of pneumonia and other multisystemic complications. The clinical picture of the infection has extreme variability: it goes from asymptomatic patients or mild forms with fever, cough, fatigue and loss of smell and taste to severe cases ending up in the intensive care unit (ICU). This is due to a possible cytokine storm that may lead to multiorgan failure, septic shock, or thrombosis. Severe Acute Respiratory Syndrome coronavirus 2 (SARS-CoV -2), which is the virus that causes COVID 19, binds to angiotensin-converting enzyme 2 (ACE2) receptors, which are expressed in key metabolic organs and tissues, including pancreatic beta cells, adipose tissue, the small intestine and the kidneys. Therefore it is possible to state that newly-onset diabetes is triggered by COVID 19 infection. Although many hypotheses have clarified the potential diabetogenic effect of COVID 19, a few observations were reported during this pandemic. Two male patients admitted to us with devastating hyperglycemia symptoms were diagnosed with type 1/autoimmune diabetes mellitus within 3 months following COVID 19 infection. Autoantibodies and decreased C peptide levels were detected in these patients. We speculated that several mechanisms might trigger autoimmune insulitis and pancreatic beta-cell destruction by COVID 19 infection. We aim to raise awareness of the possible link between SARS-CoV-2 and newly onset type 1 diabetes mellitus. Further studies are needed to determine a more definitive link between the two clinical entities.

Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism.

AIM: Lack of CYP17A1 prevents sex steroid biosynthesis, yielding a female phenotype in 46, XY males and sexual infantilism in both sexes; overproduction of 11-deoxycorticosterone (DOC) in the zona fasciculata typically causes mineralocorticoid hypertension. In this study, we report two cases of severe hypokalemia, hyperaldosteronism, and sexual infantilism. CASE PRESENTATION: Case 1 admitted severe hypertension and hypokalemia with female external genitalia with 46, XY. The patient also had right adrenal masses of 35*30 mm diameters. Case 2 was presented with delayed pubertal development with 46, XX genotype. In addition, she had severe hypertension and hypokalemia with nodular surrenal hyperplasia in her abdomen imaging. METHODS: Further hormonal and biochemical results were followed as elevated adrenocorticotropic hormone (ACTH) levels, low serum cortisol, 17 hydroxy progesterone (17 OHP) and dehydroepiandrosterone sulphate (DHESO4) and estradiol (E2) levels in both cases. RESULTS: Genetical analyses confirmed 17 OHP deficiency in both cases. CONCLUSION: The condition of patients with 17 alpha-hydroxylase deficiency may substantially resemble primary hyperaldosteronism and must be considered in patients as primary hypogonadism (and) associated with mineralocorticoid hypertension.

Genetic Testing in Hereditary Pituitary Tumors.

Genetic testing is becoming part of mainstream endocrinology. An increasing number of rare and not-so-rare endocrine diseases have an identifiable genetic cause, either at the germline or at the somatic level. Here we summerise germline genetic alterations in patients with pituitary neuroendocrine tumors (pituitary adenomas). These may be disorders with isolated pituitary tumors, such as X-linked acrogigantism, or AIP-related pituitary tumors, or as part of syndromic diseases, such as multiple endocrine neoplasia type 1 or Carney complex. In some cases, this could be relevant for treatment choices and follow-up, as well as for family members, as cascade screening leads to early identification of affected relatives and improved clinical outcomes.

Inadequate gonadal replacement in patients with Turner syndrome may result in pituitary volume enlargement.

OBJECTIVES: Patients with Turner syndrome need hormone replacement therapy for puberty induction. However, it is not known whether inadequate hormone replacement therapy affects the pituitary. DESIGN AND PATIENTS: Patients with Turner syndrome (n=35) and healthy control (n=20) (age/gender matched) subjects were included. MRI imaging of the pituitary was used to calculate pituitary volumes. According to the estradiol regimen, patients were divided into two groups; (i) those treated with low-dose conjugated oestrogen (CE, 0.625 mg) and (ii) those treated with combination therapy (ethinyl estradiol+sipropterone acetate; 35 mcg/2 mg). Pituitary measurements were calculated according to pituitary borders and their distances to each other via pituitary MRI. RESULTS: Pituitary hyperplasia (0.58±0.15 cm3 vs. 0.40±0.17 cm3) was determined in patients with low dose conjugated estrogen compared to the other patients or healthy control subjects (0.42±0.16 cm3) (p=0.005). Serum FSH levels of the patients treated with low dose CE were also higher compared to the patients who received combination therapy (p=0.001). CONCLUSION: Inadequate hormone replacement therapy can cause devastating effects on the bones and uterine health and disrupts the pituitary structure.

Is mean platelet volume a simple marker of non-alcoholic fatty liver disease?

BACKGROUND: Due to the increasing prevalence of non-alcoholic fatty liver disease (NAFLD), there was a need to establish non-invasive tests for its detection. Mean platelet volume (MPV) is an inexpensive, practical and easily accessible marker of inflammation in many disorders. Our study was aimed at investigating the relationship between MPV and both NAFLD and liver histology. METHODS: Total 290 patients with biopsy-proven NAFLD (n = 124) and 108 control patients were included in the study. To exclude the effect of other diseases on MPV, we included 156 patient controls in our study. Those whohave liver-related diseases and those who use drugs that may cause fatty liver were not included in the study. Liver biopsy was performed for those whose alanine aminotransferase level persisted for >6 months above the upper limits. RESULTS/CONCLUSION: We found that MPV was significantly higher in the NAFLD group compared with the control group, and MPV had an independent predictive value for the development of NAFLD. We determined that the number of platelets was significantly lower in the NAFLD group compared with that in the control group. We compared MPV values histologically with both stage and grade in all patients with biopsy-proven NAFLD and found that MPV had a significant positive correlation with stage. We observed a positive correlation between MPV and non-alcoholic steatohepatitis grade, but this was not statistically significant. MPV can be useful because it is simple, easy to measure, cost-effective, and routinely tested in daily practice. MPV can be used as a simple marker of NAFLD and an indicator of fibrosis-stage in NAFLD.

A machine learning approach to distinguishing between non-functioning and autonomous cortisol secreting adrenal incidentaloma on magnetic resonance imaging using texture analysis.

PURPOSE: To investigate the possibility of distinguishing between nonfunctioning adrenal incidentalomas (NFAI) and autonomous cortisol secreting adrenal incidentalomas (ACSAI) with a model created with magnetic resonance imaging (MRI)-based radiomics and clinical features. METHODS: In this study, 100 adrenal lesions were evaluated. The lesions were segmented on unenhanced T1-weighted in-phase (IP) and opposed-phase (OP) as well as on T2-weighted (T2-W) 3Tesla MRIs. The LASSO regression model was used to select potential predictors from 108 texture features for each sequence. Subsequently, a combined radiomics score and clinical features were created and compared. RESULTS: A significant difference was found between median rad-scores for ACSAI and NFAI in training and test sets (p < 0.05 for all sequences). Multivariate logistic regression analysis revealed that the length of the tumor (OR = 1.09, p = 0.007) was an independent risk factor related to ACSAI. Multivariate logistic regression analysis was used for building clinical-radiomics (combined) models. The Op, IP, and IP plus T2-W model had a higher performance with area under curve (AUC) 0.758, 0.746, and 0.721 on the test dataset, respectively. CONCLUSION: ACSAI can be distinguished from NFAI with high accuracy on unenhanced MRI. Radiomics analysis and the model constructed by machine learning algorithms seem superior to another radiologic assessment method. The inclusion of chemical shift MRI and the length of the tumor in the radiomics model could increase the power of the test.