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Objective: Evaluate the level of information of pediatricians about the diagnosis and management of cryptorchidism. Method: A cross-sectional observational study was conducted using a form via the "Google Forms" platform. The study population included pediatricians and pediatric residents associated with the Brazilian Society of Pediatrics. Seven hundred twenty-eight responses were recorded and analyzed using IBM SPSS v21. Results: 728 valid responses were obtained. Of these answers, only 20.5 % answered that the physical examination was sufficient for the diagnosis, and 79.4 % responded that they requested ultrasound as the best test to aid in diagnosing cryptorchidism. When questioned about the ideal age for referring a patient with cryptorchidism, the survey recorded 56.3 % of the responses defending the correct age as six months old, 30.2 % shortly after birth, and 13.2 % at two years old. Other topics were addressed in the form, such as the frequency of evaluation of testicular position and investigation for DDS, among others. Still, the answers to these questions were compatible with current manuals and guidelines on cryptorchidism. Conclusion: It is evident that the understanding of the professionals consulted about the diagnosis and management of cryptorchidism needs to be updated with the current practices adopted and that pediatricians, in general, must maintain periodic programs on this subject. Therefore, this topic should be part of a continuing education program with pediatric surgery. [ABSTRACT FROM AUTHOR]

This study aims to explore predictors of performance ascertaining the optimal body composition for worldlevel arm wrestlers in a competitive environment. Athletes underwent body composition assessments and their final competition classifications were noted. Athletes had a pairwise comparison percentile groups for relative fat mass (FM%), scattered by country, fat-free mass (FFM%) clustered by final classification, and comparison of the final classifications, grouped by country. A total of 220 elite, male competitors from 33 countries showed a mixed classification by country for FM% percentiles (p = .089) with values ranging from the 10th percentile (FM = 7.1%) to above the 90th percentile (FM = 16.1%). Extreme values (FM = 4.5%) and country of origin did not predict the classification of the athletes, although the athletes´ ranking <75th did suggest a tendency towards classification (FFM% = 27.3%). Thus, world-level arm wrestlers revealed nutritional issues concerning values for body composition components in a competition environment. [ABSTRACT FROM AUTHOR]

Background:DHX37 is an autosomal gene responsible for encoding a helicase from the DExD/H-box family that plays an essential role in ribosome biogenesis. Variants in this gene were previously reported in two different phenotypes: neurodevelopmental disorders and disorders/differences of sex development (DSD). Particularly for the DSD group, variants were mainly reported associated with gonadal dysgenesis and testicular regression syndrome. Summary: Focusing specifically in the DSD group, we revised the 21 DHX37 variants described across a total of 55 cases published in the literature so far. We summarized the most important clinical and molecular features of all cases, trying to have a better comprehensiveness about this gene in the sexual development. Key Messages: The trick question regarding DHX37 is how a helicase involved in basic cell function could have a specific role in testis development. Little is known about the impact of DHX37 variants in DSD individuals. Nevertheless, current research strongly suggests that DHX37 is involved in the male sex development pathway, particularly in testis determination and maintenance. This is evidenced by the predominant assignment of affected individuals as males and the presence of Wolffian structures in most of the cases. Advancements in molecular techniques, such as the generation of induced pluripotent stem cells and the digenic inheritance for DHX37 cases, are also addressed in this paper. This represents the first comprehensive review of all DHX37 variants published in the literature to date. [ABSTRACT FROM AUTHOR]

Introduction and Objective: Prenatal suspicion of disorders/differences of sex development (DSDs) is a relatively new phenomenon. The aim of this study was to review the prenatal findings of DSD cases postnatally diagnosed in our tertiary referral center. Methods: We evaluated 57 DSD cases with sex ambiguity who had undergone prenatal ultrasound with phenotypic sex assessment and/or cell-free fetal DNA (cffDNA) for genotypic sex assessment. Results: Prenatal cffDNA had been performed in 32 cases, being positive (suggestive of male genotypic sex) in 26 and negative (suggestive of female genotypic sex) in 6. Five with cffDNA negative had a prenatal ultrasound indicating female external genitalia, in turn, in those with cffDNA positive, only two had a prenatal ultrasound indicating male external genitalia. Our postnatal data showed that when external genitalia were female or poorly virilized, prenatal ultrasound indicated female sex, but in cases of higher degree of virilization, ultrasound showed similar rates of male, female, or undetermined sex. Regarding the karyotype, our data showed those with XY karyotype had positive cffDNA, those with XX karyotype had negative cffDNA, and all five with sex chromosome anomalies had positive cffDNA because they were 45,X/46,XY. We suggested an algorithm to investigate these cases during gestation, including evaluation of uterus, fetal growth, and malformations. Conclusion: We suggest that the parents should be counseled prenatally by a dedicated multidisciplinary team with experience in DSD management and evaluated as soon as possible after birth. [ABSTRACT FROM AUTHOR]

Youth with intellectual disabilities (IDs) demonstrate below-criteria motor competence (MC) compared with typically developing (TD) youth. Whether differences in MC exist for youth with ID from different countries is unknown. This study examined the MC of youth with ID from Brazil (BR) and the United States (US) and compared it with norms for TD youth as established by the Bruininks–Oseretsky Test of Motor Proficiency (BOT-2). The authors measured 19 BOT-2 test items for bilateral coordination, balance, and upper limb coordination of 502 youth (BR = 252, US = 250) with ID (6–21 years). Raw scores were converted to %ceiling (percentile of highest expected scores). For all test items, no significant differences were seen between BR and US participants in %ceiling scores. Participants from both countries demonstrated equivalent to slightly below BOT-2 norms in 14 of the 19 test items, with lowest scores seen in contralateral synchronizing bilateral coordination, balancing on one leg, and ball handling. [ABSTRACT FROM AUTHOR]

The purpose of this study was to develop and cross-validate an equation for estimating percentage body fat (%BF) from body mass index and other potential independent variables among young persons with intellectual disability. Participants were 128 persons with intellectual disability (62 women; age 16–24 years) split between development (n = 98) and cross-validation (n = 30) samples. Dual-energy X-ray absorptiometry served as the reference method for %BF. An equation including 1/body mass index and sex (0 = male; 1 = female) was highly accurate in estimating %BF (p <.001; R2 =.82; standard error of estimate = 5.22%). Mean absolute and root mean square errors were small (3.1% and 3.9%, respectively). A Bland–Altman plot indicated nearly zero mean difference between actual and predicted %BF with modest 95% confidence intervals. The prediction equation was %BF = 56.708 − (729.200 × [1/body mass index]) + (12.134 × sex). Health care professionals may use the prediction equation for monitoring %BF among young people with intellectual disability. [ABSTRACT FROM AUTHOR]

The human chorionic gonadotropin (hCG) stimulation test that evaluates gonadal steroidogenesis is crucial in the assessment of patients with 46,XY disorders of sex development (DSD). This study aimed to determine a testosterone (T) cutoff level that indicates an adequate testicular function using LC-MS/MS after stimulation with recombinant human chorionic gonadotropin (rhCG) in a single dose. Nineteen prepubertal children with 46,XY DSD and normal T secretion were evaluated. T and dihydrotestosterone (DHT) levels were measured by liquid chromatography technique with tandem mass spectrometry (LC-MS/MS) before and 7 days after rhCG application at 250 µg. We suggest 0.89 ng/mL as the cutoff point for T after rhCG stimulation analyzed by LC-MS/MS. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this retrospective study was to verify the association between the time of diagnosis and initial and final sex assignment in a disorder of sex development (DSD) diagnostic group, looking at the age of the patients at first visit, severity of genital ambiguity, and karyotype. Methods: The time of diagnosis was divided into 3 groups: before 2000, between 2000 and 2006, and after 2006. Data were categorized and analyzed using the χ2 test with α < 0.05. Results: A total of 567 cases were analyzed; 307 were assigned as male, 135 as female, and 125 remained undefined at the first visit. After clinical and laboratory evaluations, 369 patients were male and 198 were female. Neither initial nor final sex assignment proportions changed over time, but there were significant differences in the age at first visit, with referral occurring at an earlier age, as well as more severe genital ambiguity presentations, a higher proportion of sex chromosome aberrations, and a lower frequency of 46,XX DSD cases. This occurred both in the sample as a whole (567 cases) and in the group of 125 patients without definitive sex assignment at the first visit. The results were similar when only 284 patients aged less than 12 months at the first visit were analyzed. Discussion/Conclusion: Over time, there were no changes in sex assignment proportions, but there was an increased awareness of the need for early referral and changes in clinical, cytogenetic, and diagnostic aspects. [ABSTRACT FROM AUTHOR]