Cancer Frequency in MuSK Myasthenia Gravis and Histological Evidence of Paraneoplastic Etiology.

Cancer frequency in muscle-specific kinase myasthenia gravis (MuSK-MG) has not yet been explored and the mechanisms leading to the formation of MuSK IgG remain elusive. We aimed to explore cancer frequency in MuSK-MG patients and to assess MuSK expression in cancer cells from 2 tumors occurred in this cohort. Immunohistochemistry on tumor specimens revealed the expression of MuSK in the cancer cells from primary mediastinal B cell lymphoma and endometrial carcinoma. Twenty-one males and 73 females were enrolled. Fifteen cancers occurred in 13 of 94 patients (13.8%). Patients with cancer were significantly older at time of MuSK-MG onset. ANN NEUROL 2024.

X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene.

Adrenal hypoplasia congenita, attributed to NR0B1 pathogenic variants, accounts for more than 50% of the incidence of primary adrenal insufficiency in children. Although more than 250 different deleterious variations have been described, no genotype-phenotype correlation has been defined to date. We report a case of an adopted boy who reported the onset of an adrenal crisis at 2 weeks of age, requiring replacement therapy with mineralocorticoids and glucocorticoids for 4 months. For 3 years, he did well without treatment. At almost 4 years of age, the disorder was restarted. A long follow-up showed the evolution of hypogonadotropic hypogonadism. Molecular studies on NR0B1 revealed a novel and deleterious deletion-insertion-inversion-deletion complex rearrangement sorted in the 5'-3' direction, which is described as follows: (1) deletion of the intergenic region (between TASL and NR0B1 genes) and 5' region, (2) insertion of a sequence containing 37 bp at the junction of the intergenic region of the TASL gene and a part of exon 1 of the NR0B1 gene, (3) inversion of a part of exon 1, (4) deletion of the final portion of exon 1 and exon 2 and beginning of the 3'UTR region, (5) maintenance of part of the intergenic sequence (between genes MAGEB1 and NR0B1, telomeric sense), (6) large posterior deletion, in the same sense. The path to molecular diagnosis was challenging and involved several molecular biology techniques. Evaluating the breakpoints in our patient, we assumed that it was a nonrecurrent rearrangement that had not yet been described. It may involve a repair mechanism known as nonhomologous end-joining (NHEJ), which joins two ends of DNA in an imprecise manner, generating an "information scar," represented herein by the 37 bp insertion. In addition, the local Xp21 chromosome architecture with sequences capable of modifying the DNA structure could impact the formation of complex rearrangements.

The effects of an active breaks intervention on physical and cognitive performance: results from the I-MOVE study.

BACKGROUND: The present quasi-experimental study aimed to evaluate the effects of active breaks intervention (ABs) to promote physical and cognitive improvement in primary school. METHODS: The active breaks group (ABsG) performed 10 min of ABs three times per school day and the control group (CG) did normal lessons. The baseline and follow-up evaluation was conducted respectively in October 2019 and in May 2021. Cognitive performance was assessed using working memory test, physical performance was analyzed with ActiGraph accelerometers and physical fitness tests, quality of life was monitored using the Paediatric Quality of Life questionnaire (PedsQL) and classroom behavior was collected with an ad hoc questionnaire. RESULTS: We enrolled 153 children (age: 7.61 ± 1.41, 54.2% males). Working memory significantly increased in the ABsG (ΔWM: 1.30 ± 1.17) than in CG (ΔWM: 0.96 ± 1.20). The 6 min Cooper test increased in the ABsG (Δ: 1.77 ± 136.03) but not in CG (Δ: -156.42 ± 187.53), P < 0.05. The weekly physical activity levels increased in both groups; however, the sedentary behavior significantly increased both in ABsG and CG. Children reported improvements in their quality of school life including feeling better in class and in school when using ABs; moreover, children improved their time on task behaviors in ABsG. CONCLUSION: The present study has proven to be effective on children's physical and cognitive performance.

Normal bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy.

It is of great importance to investigate any potential detrimental effect on bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy. This study demonstrated normal bone health in well-controlled patients. Additionally, glucocorticoid dose may play an important role in the mineral density of femoral neck region. PURPOSE: To compare regional bone mineral densities (BMDs) and bone statuses of young adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase enzyme (21OHase) deficiency with a control group. The duration and dose of glucocorticoid therapy and relative skeletal muscle index (an indicator of sarcopenia) were also analyzed as parameters to predict bone health. METHODS: This case-control study included 23 patients (7 male and 16 female) and 20 controls (8 male and 12 female) matched by age range (18 to 31 years). Dual energy X-ray absorptiometry and phalangeal quantitative ultrasound (QUS) were used to estimate BMD and bone status, respectively. RESULTS: No difference was observed between patients and controls (of both sexes) in absolute values of BMD and Z-scores for the total body, lumbar spine, and femoral neck; or the bone status (estimated by phalangeal QUS). Multiple linear regression analysis demonstrated that relative skeletal muscle index independently correlated with BMD of the entire body (ß: 0.67, P = 0.007), the lumbar spine (ß: 0.73, P = 0.005), and the femoral neck (ß: 0.67, P = 0.007). However, the dose of glucocorticoids (ß: - 0.38, P = 0.028) independently correlated with BMD in the femoral neck region alone. CONCLUSION: No signs of change in bone health were observed in patients with CAH when compared to the reference group. Additionally, a marker of sarcopenia was demonstrated to have a role in mineral density mechanisms in all analyzed bone sites. Only the femoral neck BMD seemed to be significantly dependent on glucocorticoid dose.

The impact of COVID-19 on physical activity behaviour in Italian primary school children: a comparison before and during pandemic considering gender differences.

BACKGROUND: The World Health Organization stated an average of 60 min of Moderate to Vigorous Physical Activity (MVPA) that children should accumulate every day. Nevertheless physical inactivity is growing and, due to restrictions imposed during pandemic, PA levels of children might be more negatively affected. The study aimed to analyse the impact of COVID-19 on the PA of an Italian sample of primary school children by comparing it before and during COVID-19 considering gender differences. METHODS: A pre-post analysis (October 2019-January 2021) was conducted using a randomized sample (N = 77) from the I-MOVE study settled in an Italian primary school. Both objective (Actigraph accelerometers) and self-reported (PAQ-c questionnaires) assessments of PA were performed. Changes were compared using T-Student and Chi-Square test. Gender differences were calculated using Anova. RESULTS: Weekly and daily minutes time spent in MVPA significantly decreased respectively by - 30.59 ± 120.87 and - 15.32 ± 16.21 from before to during pandemic while the weekly time spent in sedentary behaviour increased (+ 1196.01 ± 381.49). PAQ-c scores followed the same negative trend (- 0.87 ± 0.72). Boys seem to have suffered more than girls from the imposed restrictions. CONCLUSION: These findings outline the need for strategies to promote PA and reduce sedentary behaviours in children to prevent COVID-19 restriction long-term effects.

Cardiovascular dysfunction risk in young adults with congenital adrenal hyperplasia caused by 21-hydroxylase enzyme deficiency.

BACKGROUND: The association of congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase enzyme (21OHase) deficiency, duration of treatment and dosage with cardiovascular dysfunction in young adults remains unclear. We aimed to evaluate myocardial function, vascular structures and epicardial fat thickness in young adults with CAH as a result of 21OHase deficiency. Correlations between the duration and dose of glucocorticoid therapy and cardiovascular parameters were analysed. METHODS: This case-control study of young adults (18-31 years old) included 20 patients (5 men and 15 women) and 16 control subjects (8 men and 8 women). Echocardiographic analysis was performed using high-resolution ultrasound. RESULTS: No ultrasonographic changes in any indices of myocardial function, vascular structures and epicardial fat thickness were found in patients, except for an impaired left ventricular end-diastolic diameter in female patients (28.1 ± 1.6 vs 26.0 ± 2.4 mm/m2 , P = .021), compared with those in individuals in the control group. Nevertheless, the individual patient values were within the normal range. Multiple linear regression analysis in female patients demonstrated that an elevated daily dose of glucocorticoids correlated with increased indices of left ventricular posterior wall thickness (Partial r = 0.68, P = .007), left ventricular end-diastolic diameter (Partial r = 0.62, P = .017), aortic diameter (Partial r = 0.60, P = .022) and left carotid artery intima-media thickness (Partial r = 0.61, P = .021), independently of treatment duration. CONCLUSION: No signs of cardiovascular dysfunction were observed in any patient. The daily dose of glucocorticoids may play a role in the mechanisms of some markers of cardiac hypertrophy, left ventricular and aortic dilation and subclinical atherosclerosis.

Partial remission in Brazilian children and adolescents with type 1 diabetes. Association with a haplotype of class II human leukocyte antigen and synthesis of autoantibodies.

OBJECTIVE: Characterization of partial remission using the insulin dose-adjusted HbA1c (IDAA1c) ≤ 9 definition in a multiethnic Brazilian population of children and adolescents with type 1 diabetes (T1D), in addition with the determination of both Class II HLA genotype and autoantibodies. METHODS: We analyzed the prevalence of partial remission in 51 new-onset T1D patients with a median time follow-up of 13 months from diagnosis. For this study, anti-GAD65, anti-IA2 and HLA class II genotyping were considered. RESULTS: Partial remission occurred in 41.2% of T1D patients until 3 months after diagnosis, mainly in those aged 5-15 years. We have demonstrated a significant increase in the haplotypes of class II HLA DRB1*0301-DQB1*0201 in children and adolescents with a partial remission phase of the disease (42.9% vs 21.7% in non-remitters, P = .0291). This haplotype was also associated with the reduction of anti-IA2 antibodies production. Homozygote DRB1*03-DQB1*0201/DRB1*03-DQB1*0201 children had the lowest prevalence of IA-2A antibodies (P = .0402). However, this association does not correlate with the time of the remission phase. CONCLUSION: Although the number of patients studied was reduced, our data suggested that the association between genetics and decrease in antibody production to certain islet auto-antigen may contribute, at least in part, to the remission phase of T1D.

ENERGY EXPENDITURE IN 21-HYDROXYLASE CONGENITAL ADRENAL HYPERPLASIA PATIENTS AND COMPARISON WITH PREDICTIVE EQUATIONS.

Objective: To characterize resting energy expenditure (REE) in patients with classic 21-hydroxylase congenital adrenal hyperplasia (21-OH CAH) using indirect calorimetry and compare it to the most commonly used REE predictive equations. Methods: This case-control study comprised 29 post-pubertal 21-OH CAH patients regularly followed at the University of Campinas. Elevated serum 17-hydroxyprogesterone and CYP21 gene molecular analysis confirmed the diagnosis. A healthy control group paired by age, gender, and body mass index was examined. Dual-energy X-ray absorptiometry (DEXA) measured body compositions. A bioimpedance analyzer determined fat-free mass, and indirect calorimetry using a metabolic cart measured REE. Results: Unlike our initial hypothesis, REE was similar between the groups (18.7 ± 3.1 kcal/kg/day in CAH vs. 20.3 ± 3.5 kcal/kg/day in controls; P = .728). No predictive equations reached the stipulated accuracy criteria, thus lacking validity in REE assessment in adults with the characteristics of the group studied. DEXA analysis revealed higher body fat and diminished nonbone lean mass in 21-OH CAH. Anthropometric and bioelectrical impedance parameters were not significantly different. Conclusion: Classic 21-OH CAH is generally followed in reference centers, which may facilitate indirect calorimetry use for REE measurement. Alternatively, considering our REE findings in adult 21-OH CAH patients, nutrition management based on 25 kcal/body weight/day (measured REE × activity factor 1.2 to 1.3) may be reasonable for current body weight maintenance in these patients. Abbreviations: 17-OHP = 17-hydroxyprogesterone; 21-OH CAH = classic 21-hydroxylase deficiency congenital adrenal hyperplasia; BMI = body mass index; REE = resting energy expenditure; VO2 = volume of oxygen; VCO2 = volume of carbon dioxide.

A group of Brazilian Turner syndrome patients: Better quality of life than the control group.

Current literature presents no consensus regarding which aspects influence health-related quality of life (HRQoL) of women with Turner syndrome (TS). The objective of the present study was to compare HRQoL in the TS and control group, using components and domains of the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36). Observational, descriptive, and cross-sectional study with 44 women with TS aged between 18 and 30 years (TS group) and 44 healthy women of the same age which were sisters, relatives, or friends of the TS group (control group). A registration form and the SF-36 questionnaire were used to analyze HRQoL in TS in relation to the control group. The TS group presented better scores in the mental component summary and in the role physical, bodily pain, general health, social function, and role emotional domains compared to the control group. This study presented some unexpected results, different from those found in the current literature, showing the possibility of TS patients presenting better coping strategies. It is necessary to develop a specific questionnaire to assess QoL in TS and analyze in great detail which factors may influence the HRQoL of these patients.

FSH may be a useful tool to allow early diagnosis of Turner syndrome.

BACKGROUND: Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. The aim of this study was to analyze gonadotropins levels in girls with TS throughout childhood. METHODS: Retrospective longitudinal study conducted with 15 girls with TS diagnosed with < 5 years whose FSH and LH measures were available since then. Hormones were evaluated in newborn/mini-puberty (< 0.5 years), early childhood (0.5-5 years), mid-childhood (5-10 years) and late childhood/adolescence (> 10 years). In newborn/mini-puberty and late childhood/adolescence pre-pubertal or pubertal gonadotropins were considered normal; in early childhood and mid-childhood concentrations above the pre-pubertal range were considered abnormal. RESULTS: Abnormally high FSH alone was found in four of five patients in newborn/mini-puberty, 13 of 15 during early childhood and nine of 15 during mid-childhood. In the group of 12 patients in late childhood/adolescence, the three girls with spontaneous puberty had only normal levels; the remaining showed only post-menopausal concentrations. In mid-childhood one patient exhibited only pre-pubertal FSH. Conversely, most LH measurements in early and mid-childhood were normal. CONCLUSION: Karyotyping of girls with short stature and high FSH levels would allow early diagnosis of Turner syndrome in a significant number of patients, particularly when resources for chromosome study of all girls with growth deficiency are limited.

Systematic review of quality of life in Turner syndrome.

PURPOSE: This study aimed to systematically review the available literature on "quality of life" (QoL) or "health-related quality of life" (HRQoL) in Turner syndrome (TS) patients and to analyze the relations among height, puberty, and the use of growth hormone (GH) and the QoL of TS patients. METHODS: An electronic bibliographic search was conducted through the PubMed, Embase, Bireme, Scopus, and Web of Science databases. The main terms were "Quality of Life" and "Turner syndrome." RESULTS: Among the databases, 559 articles were found; after the selection process, 13 studies were selected. A quality assessment was conducted, and all the studies were of high quality. Eight well-known QoL questionnaires were used, and the selected studies presented factors that may be related to the QoL of TS patients, such as height, puberty, and GH use. However, a more detailed understanding of which factors are associated with the QoL of TS patients is still needed, which may be due to the lack of specific QoL instruments involving important aspects related to TS. CONCLUSION: The QoL of TS patients appears to be compromised, but existing data regarding the relations among height, puberty, and GH and QoL are still controversial. Although these factors should be carefully considered in TS patients, it was not possible to determine whether they have a significant relation with the QoL of TS patients.

Body Image Perception in High School Students: The Relationship with Gender, Weight Status, and Physical Activity.

Body image perception includes body size assessment, body desirability estimation, and perceptions concerning one's own body shape and size. Adolescence is a period of intense and prompt physical transformation, which changes the perception of one's body. This represents a critical period for the development of body image. Therefore, the present cross-sectional study aimed to evaluate body image perception and investigate the relationships between it, weight status, sex, and physical activity in a sample of high school students living in Italy. General demographic information and details about physical activity were collected. Body image perception was measured with a body silhouette and two indexes were calculated: the FID (Feel minus Ideal Discrepancy) to evaluate the discrepancy between the perceived current figure and the ideal figure; and the FAI (Feel weight status minus Actual weight status Inconsistency) to observe improper perception of weight status. In addition, body shape concerns were evaluated with the Body Shape Questionnaire (BSQ), in which participants reported the frequency of experiencing negative thoughts about their body shape in the last four weeks. Two hundred and four students were included in the study (155 = female, mean age = 17.13 ± 1.70; 49 = male, mean age = 17.25 ± 1.69). Females felt more concerned about body shape than males (χ2 = 11.347, p = 0.001). Distinctions emerged in terms of body mass index, the scores of Feel minus Ideal Discrepancy (FID), Feel weight status minus Actual weight status Inconsistency (FAI), the Body Shape Questionnaire (BSQ), and of the silhouette mean comparisons due to sex, weight status, and PA interaction effects (p < 0.001). Additionally, 94% of the BSQ variability could be explained by sex, weight status, and PA. Although no direct effects were observed on body image perception, healthy habit promotion, such as physical activity, could positively affect adolescent lives.

Application of the COM-B Framework to Understand Facilitators and Barriers for Practising Physical Activity among Pregnant Women and Midwives Participating in the WELL-DONE! Study.

Regular physical activity (PA) is protective and reduces disease burden but remains a challenge for pregnant women (PW). According to the World Health Organization (WHO) guidelines, PW without contraindications should practice 150 min of moderate PA per week. Nonetheless, PA levels are concerningly low among PW. The aim of this study was to investigate PW's and midwives' perceptions regarding PA and recommended guidelines, and use this information to inform future health promotion strategies. We recruited 10 PW and 10 midwives to participate in online focus groups conducted between July 2020 and April 2021. Focus group probes and data analysis were guided by the COM-B (capability, opportunity, motivation-behaviour) framework. The majority of the sample had already practised PA, recognized the importance of PA during pregnancy, and considered the WHO guidelines reasonable. Notwithstanding, PW wanted more specific instruction on PA and desired opportunities to practice. Additional barriers reported by PW included low self-efficacy and lack of motivation. Midwives considered the lack of specific knowledge and confidence in managing PA as the main obstacles. The current findings suggest that PW and midwives need specific training in PA to overcome both psychological and physical barriers. Midwives play a vital role in educating and encouraging PA among PW.

Influence of Coaching on Effectiveness, Participation, and Safety of an Exercise Program for Postmenopausal Women with Osteoporosis: A Randomized Trial.

Purpose: We compared two different strategies providing professional coaching to administer an exercise program for women with postmenopausal osteoporosis (POP): individual training (IT) at home with trainer's supervision provided by telephone contacts at regular time-intervals or group training (GT) with trainer's live supervision. Our working hypothesis was that IT is a valid alternative to GT when GT is not feasible. Patients and Methods: This was a single-blind, randomized study. We recruited 52 women with POP, without significant comorbidity, and no participation in any structured exercise program within the previous 6 months. They were assigned randomly to IT or GT groups (n = 26 each). Distribution of age (IT: 68±4, GT: 67±8 years) and body mass index (IT: 23.0±2.5, GT: 21.4±5.1) was similar between groups. Each group performed the exercise program in two 1-hour sessions per week for 18 months. Primary outcome measure was Health-Related Quality of Life (HRQoL), as measured by the Short Osteoporosis Quality of Life Questionnaire. Secondary outcome measures focused on domains acknowledged to influence HRQoL (disability, fear of falling, weekly physical activity, physical function) or the effectiveness of the exercise program (retention, adherence, and safety). Significance level was set at p < 0.05. Results: No significant differences were observed between IT and GT groups for any domain. Retention, adherence, and safety were also similar. HRQoL, disability and fear of falling did not change between baseline and follow-up for either group. However, for both groups, physical function (knee flexion, shoulder mobility) and functional capacity (6-minute walking test) improved. Weekly physical activity levels increased from moderate range at baseline to intense at final assessment for both groups. Conclusion: IT and GT supervised exercise programs for women with POP provide similar effectiveness, participation and safety. Hence, both modalities should be considered for future translation in clinical practice of exercise recommendations for POP.

Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome.

Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS). Materials and methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS. Results: There were no differences in quality of life (QoL) in TS women regarding median height and appropriate height according to parental target height, however, participants satisfied and who did not desire to change their height had better scores in the mental health and role emotional domains than those not satisfied and desired to change it. When comparing participants who were or were not bothered by physical appearance, the results showed that those not bothered by physical appearance had a better score in the vitality and social function domains. Considering patients who did or did not desire to change physical appearance, those who did not want to change their physical appearance had higher scores in the mental component and in the social function and mental health domains of the SF-36. Conclusion: This study indicated that anthropometric factors and physical appearance may possibly be associated to QoL in TS, and also emphasizes the need to develop and validate an official questionnaire regarding specific TS characteristics in order to assess in more detail how specific characteristics of TS interfere with their QoL.

Participants Characteristics of a Park-Based Physical Activity Intervention in an Urban Context-A Cross-Sectional Study in Bologna, Italy.

Physical inactivity, a leading risk factor for chronic diseases and premature death, is prevalent worldwide. This study focuses on participant profiles and factors influencing continued participation and physical activity (PA) levels in the "Moving Parks" PA intervention in Bologna, Italy. This intervention offers free group activities in city parks during the summer. A questionnaire was administered to participants in 2022, gathering data on socio-demographic information, chronic diseases, participation in previous iterations, and PA levels. Out of 596 respondents, 85% were women, and the average age was 50. About 56% held a university degree, and 73% exercised regularly in the winter. Continuous participation was linked to older age, higher education, and chronic conditions. Prior participation predicted higher winter PA levels. Notably, the majority of participants were educated, physically active women. While the project continually engages individuals with higher education and chronic conditions, it needs further tailoring to reach less represented populations.

New bioelectrical impedance vector references and phase angle centile curves in 4,367 adults: The need for an urgent update after 30 years.

BACKGROUND & AIMS: The bioelectrical impedance vector analysis (BIVA) represents a qualitative analysis of body composition. The vector, defined by resistance (R) and reactance (Xc) standardized by stature, can be evaluated compared to the 50%,75%, and 95% tolerance ellipses representative of the reference populations. The tolerance ellipses for healthy adults have been provided in 1995 and were developed by mixing underage, adult, and elderly subjects, possibly misrepresenting the actual adult population. The current multicentric, cross-sectional study aimed to provide new tolerance ellipses specific for the general adult population and as a secondary aim to present centile curves for the bioelectrical phase angle. METHODS: R, Xc, and phase angle were measured in 2137 and 2230 males and females using phase-sensitive foot-to-hand analyzers at 50 kHz. A minimum of 35 subjects were included for each sex and age category from 18 to 65 years. RESULTS: The new mean vectors showed a leftward shift on the R-Xc graph with respect to the former reference values (males: F = 75.3; p < 0.001; females: F = 36.6, p < 0.001). The results provided new 3rd, 5th, 10th, 25th, 50th, 75th, 90th, 95th, and 97th percentile curves for phase angle, identifying time point phases of decrement (males: -0.03° per year at 33.0-51.0 years and -0.05° per year after 51 years; females: -0.03° per year from 37.2 to 57.9 years). CONCLUSIONS: Compared to the original references, the new data are characterized by a different distribution within the R-Xc graph with a higher phase angle. Thirty years after the BIVA invention, the current study presents new tolerance ellipses and phase angle reference values for the adult population.

Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy.

Objective: Herein, we compared ambulatory blood pressure (ABP) between young adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase enzyme (21OHase) deficiency and a control group. Additionally, we analyzed correlations between the glucocorticoid dose and androgen levels and ABP parameters. Subjects and methods: This case-control study included 18 patients (6 males and 12 females) and 19 controls (8 males and 11 females) matched by age (18-31 years). ABP monitoring was used to estimate blood pressure (BP) over a 24-h period. Results: No difference was noted between patients and controls in terms of systolic BP (males, 115.5 ± 5.6 vs. 117.0 ± 9.3, P = 0.733; and females, 106.4 ± 7.9 vs. 108.4 ± 7.6, P = 0.556, respectively) and diastolic BP during 24 h (males, 62.8 ± 7.5 vs. 66.2 ± 5.6, P = 0.349; and females, 62.7 ± 4.9 vs. 62.3 ± 4.9, P = 0.818, respectively). Systolic and diastolic BP and pulse pressure during daytime and nocturnal periods were similar between patients and controls. Furthermore, no differences were detected in the percentage of load and impaired nocturnal dipping of systolic and diastolic BP between patients and controls during the 24-h period. Additionally, the glucocorticoid dose (varying between r = -0.24 to 0.13, P > 0.05) and androgens levels (varying between r = 0.01 to 0.14, P > 0.05) were not associated with ABP parameters. Conclusion: No signs of an elevated risk for hypertension were observed based on ABP monitoring in young adults with CAH attributed to 21OHase deficiency undergoing glucocorticoid replacement therapy.

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.

The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS). Several genes are known to be involved in sex development pathways, however approximately 50% of all cases remain elusive. Recent studies have identified variants in DHX37, a gene encoding a putative RNA helicase essential in ribosome biogenesis and previously associated with neurodevelopmental disorders, as a cause of PGD and TRS. To investigate the potential role of DHX37 in disorders of sexual development (DSD), 25 individuals with 46,XY DSD were analyzed and putative pathogenic variants were found in four of them. WES analyses were performed on these patients. In DHX37, the variant p.(Arg308Gln), recurrent associated with DSD, was identified in one patient; the p.(Leu467Val), predicted to be deleterious, was found together with an NR5A1 loss-of-function variant in patient 2; and, the p.(Val999Met) was identified in two unrelated patients, one of whom (patient 3) also carried a pathogenic NR5A1 variant. For both patients carrying DHX37 and NR5A1 pathogenic variants, a digenic inheritance is suggested. Our findings support the importance of DHX37 variants as a cause of disorders of sex development, implying a role in testis development.