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Context: The role of plasma metanephrine in adrenal venous sampling (AVS) for assessing lateralization in primary aldosteronism (PA) requires further clarification., Objective: To evaluate the performance of plasma metanephrine in AVS for determining aldosterone lateralization in PA, with or without mild autonomous cortisol secretion (MACS)., Methods: Sequential AVS under cosyntropin stimulation was conducted in 58 consecutive patients with PA and indication for AVS. The selectivity index (SI) was assessed using plasma metanephrine (SIMN) and cortisol (SIC). The lateralization index (LI) for aldosterone was calculated using metanephrine (LIA/MN) and cortisol (LIA/C)., Results: Right SIMN was significantly higher than left SIMN (127.91 nmol/L [78.12, 239.12] vs. 46.16 nmol/L [26, 73.87]; p< 0.001). SIMN and SIC were strongly correlated in both the right adrenal vein (r=0.518, p< 0.001) and the left adrenal vein (r=0.435, p< 0.001). A SIMN > 6.45 demonstrated a sensitivity and specificity of 100%, outperforming the cut-off of 12 for identifying successful catheterization. Six cases with SIMN > 12 and SIC between 3 and 5 indicated that a SIC > 3 is sufficient for confirming successful cannulation. LIA/MN and LIA/C were significantly correlated (r=0.752, p< 0.001), with PA lateralization concordant in 93.1% of cases. Two discordant cases (unilateral PA by cortisol, bilateral by metanephrine) exhibited non-classical histology, which is associated with a higher risk of PA recurrence. MACS was identified in 15 out of 58 patients (25.86%) and generally did not influence AVS lateralization, except when aldosterone and cortisol were secreted by different adrenal lesions., Conclusion: Metanephrine was superior to cortisol after cosyntropin for assessing selectivity and equivalent to cortisol for lateralization. Moreover, MACS did not impact lateralization in AVS under cosyntropin in most cases., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com. See the journal About page for additional terms.)

Objectives: Existing literature lacks data on a subgroup exhibiting psychiatric symptoms below the DSM-5 diagnostic threshold within differences of sexual development (DSD) cases. Our study aims to assess parental knowledge, attitudes toward DSD, and parental perceptions of emotional and behavioral states through a transdiagnostic perspective., Methods: The study was conducted with a total of 35 parents of children with DSD. Two groups were established via k-means clustering, based on psychiatric symptomatology levels, derived from The Strength and Difficulties Questionnaire - Parent Form and The Revised Children's Anxiety and Depression Scale - Parent Form: with one group exhibiting lower reported psychiatric symptoms (LPS=27) and the other demonstrating higher psychiatric symptoms (HPS=8) by parents., Results: Our study found that many parents were hesitant to disclose DSD diagnoses to their children, believing them to be too young to comprehend the information (42.9 %) and that they were unaware of the available support that could be provided by the medical team in disclosing the diagnosis (25.7 %). Our study found no differences in DSM-5 diagnoses between HPS and LPS groups (p>0.05), with ADHD being the most prevalent diagnosis (21.7 %) and a significant overrepresentation of children with a discrepancy between assigned gender at birth and gender upbringing in the HPS group compared to the LPS group (p<0.001)., Conclusions: Our study emphasizes the necessity of a transdiagnostic approach in psychiatry to move beyond binary conceptualizations and better understand the complexities of individuals with DSD., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)

Context: The role of hormone parameters at adrenal venous sampling (AVS) in predicting clinical and biochemical outcomes remains controversial., Objective: To investigate the impact of hormone parameters at AVS under cosyntropin stimulation on lateralization and on complete biochemical and clinical outcomes., Methods: We retrospectively evaluated 150 sequential AVS under cosyntropin infusion. The bilateral successful cannulation rate was 83.3% (n = 140), 47.9% bilateral and 52.1% unilateral. The lateralization index, aldosterone/cortisol ratio (A/C) in the dominant adrenal vein (AV), and relative aldosterone secretion index (RASI = A/C in AV divided by A/C in inferior vena cava) were assessed. The contralateral suppression (CS) percentage was defined by (1 - nondominant RASI) * 100., Results: A nondominant RASI <0.5 (CS >50%) had 86.84% sensitivity and 92.96% specificity to predict contralateral lateralization. An A/C ratio in dominant AV >5.9 (74.67% sensitivity and 80% specificity) and dominant RASI >4.7 (35.21% sensitivity and 88.06% specificity) had the worst performance to predict ipsilateral lateralization. Complete biochemical and clinical cure was significantly more frequent in the patients with CS >50% [98.41% vs 42.86% (P < .001) and 41.94% vs 0% (P < .001)]. CS correlated with high aldosterone at diagnosis (P < .001) and low postoperative aldosterone levels at 1 month (P = .019). Postoperative biochemical hypoaldosteronism was more frequent in patients with CS >50% (70% vs 16.67%, P = .014). In multivariable analysis, a CS >50% was associated with complete biochemical cure [odds ratio (OR) 125, 95% confidence interval (CI) 11.904-5000; P = .001] and hypertension remission (OR 12.19, 95% CI 2.074-250; P = .023)., Conclusion: A CS >50% was an independent predictor of complete clinical and biochemical cure. Moreover, it can predict unilateral primary aldosteronism and postoperative biochemical hypoaldosteronism. Our findings underscore the usefulness of CS for clinical decision-making., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Background: Acute psychiatric care of youth is paramount as prompt evaluation is known to mitigate potentially catastrophic outcomes in the future. The aim of this study was to analyze changes in child and adolescent psychiatric (CAP) emergency admissions within a 4-year period, including the pandemic course., Methods: Electronic patient health records of children and adolescents aged 0-18 years, admitted to the pediatric emergency department (ED) for psychiatric complaints between January 2018-December 2021, were retrospectively reviewed (n = 2014). Data including the age, sex, presenting complaint and preliminary diagnosis, length of stay in the ED, and history of previous psychiatric outpatient/emergency admissions were recorded. Interrupted Time series analysis was conducted to detect changes., Results: During the first month of the COVID-19 pandemic period (March 2020); low-risk suicide attempts (60.6%;IRR=0.394;CI=0.216-0.718), high-risk suicide attempts (82.2%;IRR=0.178;CI=0.070-0.457), manic symptoms (87.9%;IRR=0.121;CI=0.016-0.896), and total CAP emergency admissions were found to have decreased (30.7%;IRR=0.693;CI=0.543-0.885). CAP consultations due to general medical conditions were found to have increased by 7.3% (IRR=1.073;CI=1.019-1.130), and total CAP emergency admissions showed a mild increase of 1.8% (IRR=1.018;CI=1.001-1.036) through April 2020 to December 2021., Conclusion: While suicide attempts, manic symptoms, and total CAP emergency admissions decreased during the first month of the pandemic, there was an increase in total CAP emergency admissions, especially in general medical conditions presenting with psychiatric symptoms during the following pandemic period. This study highlights the importance of accounting for underlying medical conditions in patients presenting with psychiatric complaints to the ED in the normalization phase., Availability of the Data and Material: The datasets generated and/or analyzed during the present study are available from the corresponding author on reasonable request., Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest to declare., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Context: Primary aldosteronism (PA) screening relies on an elevated aldosterone to renin ratio with a minimum aldosterone level, which varies from 10 to 15 ng/dL (277-415.5 pmol/L) using immunoassay., Objective: To evaluate intra-individual coefficient of variation (CV) of aldosterone and aldosterone to direct renin concentration ratio (A/DRC) and its impact on PA screening., Methods: A total of 671 aldosterone and DRC measurements were performed by the same chemiluminescence assays in a large cohort of 216 patients with confirmed PA and at least 2 screenings., Results: The median intra-individual CV of aldosterone and A/DRC was 26.8% and 26.7%. Almost 40% of the patients had at least one aldosterone level <15 ng/dL, 19.9% had at least 2 aldosterone levels <15 ng/dL, and 16.2% had mean aldosterone levels <15 ng/dL. A lower cutoff of 10 ng/dL was associated with false negative rates for PA screening of 14.3% for a single aldosterone measurement, 4.6% for 2 aldosterone measurements, and only 2.3% for mean aldosterone levels. Considering the minimum aldosterone, true positive rate of aldosterone thresholds was 85.7% for 10 ng/dL and 61.6% for 15 ng/dL. An A/DRC >2 ng/dL/µIU/mL had a true positive rate for PA diagnosis of 94.4% and 98.4% when based on 1 or 2 assessments, respectively. CV of aldosterone and A/DRC were not affected by sex, use of interfering antihypertensive medications, PA lateralization, hypokalemia, age, and number of hormone measurements., Conclusion: Aldosterone concentrations had a high CV in PA patients, which results in an elevated rate of false negatives in a single screening for PA. Therefore, PA screening should be based on at least 2 screenings with concomitant aldosterone and renin measurements., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

This cross-sectional study aimed to evaluate depression and anxiety symptoms of the children/grandchildren of COVID-19 patients, children/grandchildren of healthcare workers who have not infected COVID-19, and children/grandchildren of the control group. Parent and children's perception about COVID-19-related stigma is also investigated and compared between groups. The perception about COVID-19-related stigma between different age and gender groups among children also investigated and compared. The mental health of the 71 participants aged 6-18 years was evaluated via a telemedicine-based semi-structured interview between March and April 2020. Children's Depression Inventory (CDI), the Screen for Child Anxiety-Related Emotional Disorders (SCARED), and COVID-19-Related Stigma Form were administered to the participants. A significant negative correlation was found between age and separation anxiety disorder ( p = .005) and a significant positive correlation was found between age and generalized anxiety disorder ( p = .035) in the SCARED-Child report. Generalized anxiety disorder was found to be higher in females compared to males. A significant difference was found between the groups of parents in the COVID-19-Related Stigma Form. Patients infected with COVID-19, healthcare workers, and the control group have different perceptions about COVID-19-related stigma. The age of the children have an impact on stigma perceptions. Anxiety symptoms of children affected by age and gender. Future studies are recommended to determine the other factors associated with perceptions about COVID-19-related stigma among children and parents.

Objective: To compare the prevalence and correlates of overweight (OW) and obesity (OB) between autism spectrum disorder (ASD), intellectual disability (ID), and attention deficit-hyperactivity disorder (ADHD) and to investigate which variables significantly contribute to OW/OB in each group., Methods: Of 267 cases (96 with ASD, 80 with ID, and 91 with ADHD) aged 2-18 years, body mass index (BMI) percentiles, birth weight, food reward usage, weekly screen and physical activity time, and psychotropics used were recorded., Results: OB (OB + OW) prevalence was 22.9 % (36.4 %) in ASD; 22.5 % (40 %) in ID; and 17.6 % (27.5 %) in ADHD. Although the ADHD group had the highest rate of stimulant usage (χ2 = 69.605, p < 0.001), physical activity attendance (χ2 = 49.751, p < 0.001), and the lowest anti-psychotic (χ2 = 69.142, p < 0.001), and anti-depressant usage (χ2 = 7.219, p < 0.001) than ID/DD or ASD, BMI percentile of the participants did not differ between the groups (H(2) = 1.652, p = 0.43). In hierarchical logistic regression analysis, in ASD, food reward (OR = 4.65, 95 %Cl = 1.25-17.19) and the number of psychotropics used (OR = 2.168, 95 %Cl = 1.07-4.36) were significantly related to the risk of OW/OB. In ADHD, each drugs administered and a 1-kilogram elevation in birth weight was associated with a 4.09 and 2.82 increased risk for OW/OB., Conclusion: OW/OB is prevalent in children with neurodevelopmental disorders regardless of their diagnosis. Our findings showed that food rewards put a higher risk for OW/OB in ASD than administering a psychotropic. It could be better to use other positive reinforcements other than edible ones to prevent OW/OB in these children., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Objective: The aim of this study was to assess the quality of life (QoL) and psychological well-being in child and adolescent with disorders of sex development (DSD)., Methods: Sixty-two cases, aged 2-18 years, who were followed by a multidisciplinary DSD team were included. All participants and their parents were requested the complete the Pediatric Quality Of Life Inventory (PedsQL) and the Strengths and Difficulties Questionnaire. The psychiatric diagnoses of the patients were evaluated according to Schedule for Affective Disorders and Schizophrenia for School-Age Children/Present and Lifetime Turkish Version., Results: There was no significant difference between the 46,XX DSD and 46,XY DSD groups for both child and parent in Total PedsQL score. In the subscale scores, the PedsQL Physical Functionality Score reported by children was significantly lower for the 46,XX DSD group than for the 46,XY DSD group (p=0.01). There was a psychiatric diagnosis in 25.8% of cases. The PedsQL School Functionality Score reported by children in the group with psychiatric diagnosis was significantly lower than the group without psychiatric diagnosis (p=0.018). In the group with psychiatric diagnosis, the PedsQL Total Score and the subscale scores (Emotional Functionality Score, Social Functionality Score, School Functionality) reported by parents were significantly lower than in parents of the group without psychiatric diagnosis., Conclusion: This study emphasized that psychiatric disorders in DSD patients negatively affect the QoL. Psychiatric support and counseling from a multidisciplinary team are very important for families affected by DSD.

Familial primary aldosteronism (PA) is rare and mostly diagnosed in early-onset hypertension (HT). However, 'sporadic' bilateral adrenal hyperplasia (BAH) is the most frequent cause of PA and remains without genetic etiology in most cases. Our aim was to investigate new genetic defects associated with BAH and PA. We performed whole-exome sequencing (paired blood and adrenal tissue) in six patients with PA caused by BAH that underwent unilateral adrenalectomy. Additionally, we conducted functional studies in adrenal hyperplastic tissue and transfected cells to confirm the pathogenicity of the identified genetic variants. Rare germline variants in phosphodiesterase 2A (PDE2A) and 3B (PDE3B) genes were identified in three patients. The PDE2A heterozygous variant (p.Ile629Val) was identified in a patient with BAH and early-onset HT at 13 years of age. Two PDE3B heterozygous variants (p.Arg217Gln and p.Gly392Val) were identified in patients with BAH and HT diagnosed at 18 and 33 years of age, respectively. A strong PDE2A staining was found in all cases of BAH in zona glomerulosa and/or micronodules (that were also positive for CYP11B2). PKA activity in frozen tissue was significantly higher in BAH from patients harboring PDE2A and PDE3B variants. PDE2A and PDE3B variants significantly reduced protein expression in mutant transfected cells compared to WT. Interestingly, PDE2A and PDE3B variants increased SGK1 and SCNN1G/ENaCg at mRNA or protein levels. In conclusion, PDE2A and PDE3B variants were associated with PA caused by BAH. These novel genetic findings expand the spectrum of genetic etiologies of PA.

Background Psychiatric consultation is important in the follow-up of disorders of sex development (DSD) patients. In this study, we aimed to present the 12-year psychiatric follow-up data of the patients who were referred by Ege University Medical Faculty DSD Multidisciplinary Team and followed up in Child and Adolescent Psychiatry. Methods Psychiatric data of 118 patients, who were followed by the DSD multidisciplinary team between 2007 and 2019, were reviewed retrospectively. The psychiatric diagnoses of the patients were evaluated according to semi-structured interview form Schedule for Affective Disorders and Schizophrenia for School-Age Children/Present and Lifetime Turkish Version. Results The mean age of the 118 cases was 13.21 years (±7.18). Endocrine diagnoses of the cases were 46 XX DSD in 35 (29.6%), 46 XY DSD in 81 (68.7%), and chromosome disorders in 2 (1.7%). There was at least psychiatric diagnosis in 36 (30.5%) cases. The most common psychiatric diagnosis was attention deficit and hyperactivity disorder (ADHD) (n = 18, 15.3%). ADHD was most common in congenital adrenal hyperplasia (n = 4, 22.4%) and androgen synthesis defects (ASD) (n = 4, 22.4%); depression was most common in complete gonadal dysgenesis and ASD (n = 3, 23.1%); and mental retardation was most common in ASD (n = 3, 37.5%). Conclusions In order to provide a healthy perspective for cases with DSD, it is important to make a psychiatric evaluation and to share observations and clinical findings in regular team meetings.

Context: Primary aldosteronism (PA) is the most common cause of endocrine hypertension (HT). HT remission (defined as blood pressure <140/90 mm Hg without antihypertensive drugs) has been reported in approximately 50% of patients with unilateral PA after adrenalectomy. HT duration and severity are predictors of blood pressure response, but the prognostic role of somatic KCNJ5 mutations is unclear., Objective: To determine clinical and molecular features associated with HT remission after adrenalectomy in patients with unilateral PA., Methods: We retrospectively evaluated 100 patients with PA (60 women; median age at diagnosis 48 years with a median follow-up of 26 months). Anatomopathological analysis revealed 90 aldosterone-producing adenomas, 1 carcinoma, and 9 unilateral adrenal hyperplasias. All patients had biochemical cure after unilateral adrenalectomy. KCNJ5 gene was sequenced in 76 cases., Results: KCNJ5 mutations were identified in 33 of 76 (43.4%) tumors: p.Gly151Arg (n = 17), p.Leu168Arg (n = 15), and p.Glu145Gln (n = 1). HT remission was reported in 37 of 100 (37%) patients. Among patients with HT remission, 73% were women (P = 0.04), 48.6% used more than three antihypertensive medications (P = 0.0001), and 64.9% had HT duration <10 years (P = 0.0015) compared with those without HT remission. Somatic KCNJ5 mutations were associated with female sex (P = 0.004), larger nodules (P = 0.001), and HT remission (P = 0.0001). In multivariate analysis, only a somatic KCNJ5 mutation was an independent predictor of HT remission after adrenalectomy (P = 0.004)., Conclusion: The presence of a KCNJ5 somatic mutation is an independent predictor of HT remission after unilateral adrenalectomy in patients with unilateral PA., (Copyright © 2019 Endocrine Society.)

Jeune syndrome (asphyxiating thoracic dystrophy) is a rare skeletal dysplasia mainly characterized by dystrophy of the thoracic cage. Neurally adjusted ventilatory assist (NAVA) is a respiratory support in which pressure assistance is provided in proportion to and synchronous with the electrical activity of the diaphragm. We present the case of a 4-month-old infant with asphyxiating thoracic dystrophy and respiratory failure successfully ventilated with NAVA. In this case, NAVA improved patient-ventilator synchrony, reducing endotracheal secretion and gastric overdistention. The reduction of breathing effort and the improvement in enteral feeding tolerance and weight gain made the patient eligible for thoracic surgical correction., (Copyright © 2016 by the American Academy of Pediatrics.)

Background: The amygdala is repeatedly implicated as a critical component of the neurocircuitry regulating emotional valence. Studies have frequently reported reduced amygdala volumes in children and adolescents with bipolar disorder (BD). Brain derived neurotrophic factor (BDNF) and nerve growth factor (NGF) play critical roles in growth, differentiation, maintenance, and synaptic plasticity of neuronal systems in adolescent brain development. The aim of the present study was to assess amygdala volumesand its correlation with serum levels of NGF and BDNF in euthymic adolescents with BD and healthy controls., Methods: Using structural MRI, we compared the amygdala volumes of 30 euthymic subjects with BD with 23 healthy control subjects aged between 13 and 19 years during a naturalistic clinical follow-up. The boundaries of the amygdala were outlined manually. Serum BDNF and NGF levels were measured using sandwich-ELISA and compared between the study groups., Results: The right or left amygdala volume did not differ between the study groups.The right and left amygdala volumes were highly correlated with levels of BDNF in the combined BD group and the valproate-treated group.Both R and L amygdala volumes were correlated with BDNF levels in healthy controls. The left amygdala volumes were correlated with BDNF levels in the lithium-treated group., Limitations: This cross-sectional study cannot inform longitudinal changes in brain structure. Further studies with larger sample sizes are needed to improve reliability., Conclusions: The correlations between amygdala volumes and BDNF levels might be an early neuromarker for diagnosis and/or treatment response in adolescents with BD., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Background: Structural neuroimaging studies in bipolar disorder (BD) have consistently identified several anatomical abnormalities in many brain areas related to mood regulation. Hippocampus is one of the key components of emotional regulatory networks in the brain. Evidence about hippocampal changes in BD is quite limited and inconsistent particularly for adolescent onset BD. It is aimed to compare hippocampus volumes of euthymic BD-I adolescents with healthy controls using structural MRI., Methods: Hippocampal volumes of seventeen youths between 13 and 19 age period with DSM-IV BD (seven boys) and twelve healthy comparison subjects (five boys) were compared using structural MRI. Differences in hippocampal volumes between groups were tested., Results: There was no significant difference between the right and left hippocampus volumes of patients with BD and the control group. However boys tended to have significantly larger right hippocampal volumes than girls both in BD and control group. Right hippocampal volumes were enlarged in lithium treated bipolar patients. This enlargement is not related to sex., Limitations: Future, longitudinal follow-up studies need large enough sample sizes of both sexes and a sex-matched healthy comparison group to sort out developmental, gender and medication influences on brain structures over time in BD., Conclusions: Lithium treatment in adolescent-onset BD has a significant effect on hippocampus volumes., (Copyright © 2012 Elsevier B.V. All rights reserved.)