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Objectives: To investigate the approach taken by clinicians involved in the diagnosis and management of individuals with Differences of Sex Development (DSD), particularly with regard to genomic testing, and identify perceived gaps/strengths/barriers in current practice. Design and Methods: An anonymous online survey was developed, with questions exploring demographics, perceptions of genomic testing, availability of genetics services and opinions on the role and utility of genomic testing in DSD. All responses were anonymous. Clinicians involved in the diagnosis and management of individuals with DSD were recruited from relevant societies and departments across Australia and New Zealand. Results: 79 eligible clinicians commenced the survey, with 63 completing it and 16 providing a partial response. The perceived benefit of having a genetic diagnosis for DSD was almost unanimous (97%). Almost half (48%) of respondents reported barriers in genomic testing. 81% of respondents reported they order genomic tests currently. Approaches to genomic testing when faced with four different clinical scenarios varied across respondents. Clinicians perceived genomic testing to be underutilised (median 36 on sliding scale from 0 to 100). Conclusions: Despite 97% of respondents reporting benefit of a genetic diagnosis for individuals with DSD, this was not reflected throughout the survey with regard to clinical implementation. When faced with clinical scenarios, the recommendations for genomic testing from respondents was much lower, indicating the discrepancy between perception and clinical practice. Genomic testing in the context of DSD is seen as both beneficial and desired, yet there are multiple barriers impacting its integration into standard clinical care. [ABSTRACT FROM AUTHOR]

Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR) gene. Case presentation: We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel AR variant (c.159_207del). Case-based review: Our report encompasses the complexity of CAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement therapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An algorithm has been formulated for the management of CAIS starting in adolescence, highlighting the conservative approach for those patients unwilling to undergo gonadectomy. Conclusions: Primary amenorrhea and delay in puberty development may provide clues, ultimately leading to a diagnosis of CAIS. This review emphasizes the cruciality of a multidisciplinary approach in managing patients with CAIS, needing for an individualized care to optimize the overall outcome. [ABSTRACT FROM AUTHOR]

Abstract Background Exploring the physiological and molecular mechanisms underlying goat sexual maturation can enhance breeding practices and optimize reproductive efficiency and is therefore substantially important for practical breeding purposes. As an essential neuroendocrine organ in animals, the hypothalamus is involved in sexual development and other reproductive processes in female animals. Although microRNAs (miRNAs) have been identified as significant regulators of goat reproduction, there is a lack of research on the molecular regulatory mechanisms of hypothalamic miRNAs that are involved in the sexual development of goats. Therefore, we examined the dynamic changes in serum hormone profiles and hypothalamic miRNA expression profiles at four developmental stages (1 day (neonatal, D1, n = 5), 2 months (prepubertal, M2, n = 5), 4 months (sexual maturity, M4, n = 5), and 6 months (breeding period, M6, n = 5)) during sexual development in Jining grey goats. Results Transcriptome analysis revealed 95 differentially expressed miRNAs (DEMs) in the hypothalamus of goats across the four developmental stages. The target genes of these miRNAs were significantly enriched in the GnRH signalling pathway, the PI3K-Akt signalling pathway, and the Ras signalling pathway (P

Introduction: Hydrocolpos, a rare condition characterized by cystic dilatation of the vagina, can arise from various etiologies, including isolated imperforate hymen and vaginal atresia. Genetic conditions, such as Bardet-Biedl syndrome (BBS), may also manifest with hydrocolpos as part of urogenital malformations. Methods: We present a case of neonatal hydrocolpos associated with BBS. Sequencing of 19 BBS genes was performed to elucidate the genetic basis of the syndrome. Results: Genetic analysis revealed a novel frameshift indel variant (c.1543_1546dup p.Thr516Argfs*7) in the BBS10 gene. This finding expands the spectrum of BBS mutations and underscores the importance of genetic evaluation in patients with hydrocolpos, particularly when associated with additional clinical features suggestive of syndromic etiology. Conclusion: Pediatric urologists should maintain a high index of suspicion for underlying genetic conditions, including BBS, in neonates presenting with hydrocolpos, given the potential for more severe associated complications such as renal and retinal diseases, obesity, and polydactyly. [ABSTRACT FROM AUTHOR]

Background: Exploring the physiological and molecular mechanisms underlying goat sexual maturation can enhance breeding practices and optimize reproductive efficiency and is therefore substantially important for practical breeding purposes. As an essential neuroendocrine organ in animals, the hypothalamus is involved in sexual development and other reproductive processes in female animals. Although microRNAs (miRNAs) have been identified as significant regulators of goat reproduction, there is a lack of research on the molecular regulatory mechanisms of hypothalamic miRNAs that are involved in the sexual development of goats. Therefore, we examined the dynamic changes in serum hormone profiles and hypothalamic miRNA expression profiles at four developmental stages (1 day (neonatal, D1, n = 5), 2 months (prepubertal, M2, n = 5), 4 months (sexual maturity, M4, n = 5), and 6 months (breeding period, M6, n = 5)) during sexual development in Jining grey goats. Results: Transcriptome analysis revealed 95 differentially expressed miRNAs (DEMs) in the hypothalamus of goats across the four developmental stages. The target genes of these miRNAs were significantly enriched in the GnRH signalling pathway, the PI3K-Akt signalling pathway, and the Ras signalling pathway (P < 0.05). Additionally, 16 DEMs are common among the M2 vs. D1, M4 vs. D1, and M6 vs. D1 comparisons, indicating that the transition from D1 to M2 represents a potentially critical period for sexual development in Jining grey goats. The bioinformatics analysis results indicate that miR-193a/miR-193b-3p-Annexin A7 (ANXA7), miR-324-5p-Adhesion G protein-coupled receptor A1 (ADGRA1), miR-324-3p-Erbb2 receptor tyrosine kinase 2 (ERBB2), and miR-324-3p-Rap guanine nucleotide exchange factor 3 (RAPGEF3) are potentially involved in biological processes such as hormone secretion, energy metabolism, and signal transduction. In addition, we further confirmed that miR-324-3p targets the regulatory gene RAPGEF3. Conclusion: These results further enrich the expression profile of hypothalamic miRNAs in goats and provide important insights for studying the regulatory effects of hypothalamic miRNAs on the sexual development of goats after birth. [ABSTRACT FROM AUTHOR]

One of the major factors driving the currently ongoing biodiversity crisis is the anthropogenic spread of infectious diseases. Diseases can have conspicuous consequences, such as mass mortality events, but may also exert covert but similarly severe effects, such as sex ratio distortion via sex‐biased mortality. Chytridiomycosis, caused by the fungal pathogen Batrachochytrium dendrobatidis (Bd) is among the most important threats to amphibian biodiversity. Yet, whether Bd infection can skew sex ratios in amphibians is currently unknown, although such a hidden effect may cause the already dwindling amphibian populations to collapse. To investigate this possibility, we collected common toad (Bufo bufo) tadpoles from a natural habitat in Hungary and continuously treated them until metamorphosis with sterile Bd culture medium (control), or a liquid culture of a Hungarian or a Spanish Bd isolate. Bd prevalence was high in animals that died during the experiment but was almost zero in individuals that survived until the end of the experiment. Both Bd treatments significantly reduced survival after metamorphosis, but we did not observe sex‐dependent mortality in either treatment. However, a small number of genotypically female individuals developed male phenotype (testes) in the Spanish Bd isolate treatment. Therefore, future research is needed to ascertain if larval Bd infection can affect sex ratio in common toads through female‐to‐male sex reversal. [ABSTRACT FROM AUTHOR]

This study aimed to assess the effectiveness of a sexual development education programme designed for the mothers of primary school pupils in Türkiye. The programme’s impact on participants’ perceptions of sex education was evaluated using a 2 × 2 experimental design. Thirty participants, all mothers of primary school students, were assigned to either the experimental or control group. Data collection tools included a Personal Information Form, an Opinion Questionnaire on Sex Education, and the Sex Education Programme Knowledge Test (SEPKT). The experimental group participated in an 8-week Sexual Development Education Programme. Pre-test analysis revealed no significant differences between the experimental and control groups; however, post-test analysis indicated a significant improvement in SEPKT scores for the experimental group compared to the control group. Post-test results also showed that participating mothers held more positive views about sexual development education compared to their pre-programme perspectives. This research contributes to understanding the impact of targeted interventions in sex and sexuality education. The findings underscore the importance of providing comprehensive sex education programmes with targeted interventions for parents in Türkiye, which can positively influence their ability to communicate and provide appropriate education to their children. [ABSTRACT FROM AUTHOR]

This publication provides an overview of current imaging indications and practices for patients undergoing gender-affirming surgery, with an emphasis on the importance of tailored, patient-specific care. Gender-affirming surgeries are performed with personalized approaches at various stages of life for those with intersex traits or differences in sex development (I/DSD) and transgender and gender diverse (TGD) individuals. For I/DSD patients, ultrasound, genitography, or MRI occurs during infancy and puberty to evaluate genital and gonadal anatomy. Facial harmonization involves bony and soft tissue modifications, guided by maxillofacial computerized tomography (CT) with three-dimensional reconstruction. Ultrasound is the main modality in assessing hormone-related and post-surgical changes in the chest. Imaging for genital reconstruction uses cross-sectional images and fluoroscopy to assess neoanatomy and complications. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to examine the sexual development characteristics of adolescents with intellectual disability in terms of several variables. The data were collected with the Personal Information Form and the Sexual Development Characteristics Scale of Children with Adolescent Mental Disabilities. Method: Independent samples tests, one-way ANOVA tests, and Bonferroni post hoc analyses were conducted to compare the descriptive characteristics of the adolescents and parents with their scale scores. Multiple linear regression analysis was employed to examine the relationships between the dependent and independent variables. Significant differences were identified between certain subdimensions of the scale and the variables. Findings: The sexual arousal subdimension of the scale accounts for 12% of the variance in the dependent variable, the knowledge about physical development subdimension accounts for 10% of the variance in the dependent variable, the sexual satisfaction subdimension accounts for 6% of the variance in the dependent variable, and the sexual self-care subdimension accounts for 11% of the variance in the dependent variable. This difference was explained by the independent variables (R2 adjusted= .12, .10, .06, .11, respectively). Conclusion: In this study, it was found that the sexual development characteristics of adolescents with intellectual disability were affected by the educational status of the mother, the place of residence of the family, the help of the spouse in childcare, the gender of the child, the verbal communication status of the child, the degree of inadequacy of the child, and the ability to meet the personal needs of the child. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Secrecy about a childs difference of sex development (DSD) can lead to internalized shame and stigma. We explored how teenagers and adults with DSD, parents, healthcare providers, and allied professionals value and perceive patient education. METHODS: Stakeholders (n = 110) completed qualitative semi-structured interviews. Relevant themes for educational content were queried and organized. RESULTS: Education was consistently identified as essential to successful outcomes. There was less consistency in how to educate patients. Disagreement existed regarding who should champion the education process. Participants believed medically relevant information should be shared gradually with attention to developmental capacity. Details were lacking regarding how much or what information to share. Participants noted that vetted resources were helpful. Benefits of sharing condition-specific information with patients included supporting their psychosocial development. Barriers included parental resistance to sharing information due to shame/stigma, and cultural and/or family dynamics. CONCLUSIONS: Stakeholders different perspectives regarding patient DSD education warrant future research to focus on the design, evaluation, and implementation of education-focused interventions. PRACTICE IMPLICATIONS: Healthcare providers are responsible for supporting the education of children and teenagers with DSD about their condition. When considering barriers, adopting a cultural or family systems framework can reduce parental resistance and promote open dialogue.

ABSTRACT Sexual reproduction in fungi allows genetic recombination and increases genetic diversity, allowing adaptation and survival. The velvet complex is a fungal-specific protein assembly that regulates development, pathogenesis, and secondary metabolism in response to environmental cues, such as light. In Neurospora crassa, this complex comprises VE-1, VE-2, and LAE-1. Deletion of ve-1 or ve-2, but not lae-1, leads to increased conidiation (asexual spore formation) and reduced sexual development. Mutants lacking ve-1 and/or ve-2 are female sterile and male fertile, indicating that a VE-1/VE-2 complex regulates the development of female structures. During sexual development, we observed differential regulation of 2,117 genes in dark and 4,364 genes in light between the wild type and the ∆ve-1 strain. The pheromone response and cell wall integrity pathways were downregulated in the ∆ve-1 mutant, especially in light. Additionally, we found reduced levels of both total and phosphorylated MAK-1 and MAK-2 kinases. In vitro experiments demonstrated the binding of VE-1 and VE-2 to the promoters of mak-1 and mak-2, suggesting a direct regulatory role of VE-1/VE-2 in the transcriptional control of MAPK genes to regulate sexual development. Deletion of the photosensor gene white-collar 1 prevented the light-dependent inhibition of sexual development in the ∆ve-1 mutant by increasing transcription of the pheromone response and cell wall integrity pathway genes to the levels in the dark. Our results support the proposal that the regulation of the MAP kinase pathways by the VE-1/VE-2 complex is a key element in transcriptional regulation that occurs during sexual development.IMPORTANCESexual reproduction generates new gene combinations and novel phenotypic traits and facilitates evolution. Induction of sexual development in fungi is often regulated by environmental conditions, such as the presence of light and nutrients. The velvet protein complex coordinates internal cues and environmental signals to regulate development. We have found that VE-1, a component of the velvet complex, regulates transcription during sexual development in the fungus Neurospora crassa. VE-1 regulates the transcription of many genes, including those involved in mitogen-activated protein kinase (MAPK) signaling pathways that are essential in the regulation of sexual development, and regulates the activity of the MAPK pathway. Our findings provide valuable insights into how fungi respond to environmental signals and integrate them into their reproductive processes.

The article discusses the importance of pediatric sexual health education and support, highlighting the need for comprehensive education that covers various aspects of sexuality from infancy through adolescence. It emphasizes the benefits of providing such education, including increased gender and sexual diversity appreciation, improved communication skills, and decreased risk of negative health outcomes. The text also addresses the challenges in providing this education, such as cultural stigma and lack of knowledge among parents and healthcare providers, and suggests that increased attention and support from the sexual medicine community could lead to improved health outcomes for children and future generations. [Extracted from the article]

Background Objectives Materials and methods Results Discussion Conclusion Androgen insensitivity syndrome (AIS) is a common condition among individuals with differences of sexual development (DSD) and results from germline allelic variants in the androgen receptor (AR) gene. Understanding the phenotypic consequences of AR allelic variants that disrupt the activation function 2 (AF2) region is essential to grasping its clinical significance.This study aims to provide insights into the phenotypic characteristics and clinical impact of AR mutations affecting the AF2 region in AIS patients. We achieve this by reviewing reported AR variants in the AF2 region among individuals with AIS, including identifying a new phenotype associated with the c.2138T>C variant (p.Leu713Pro) in the AR gene.We comprehensively reviewed AR variants within the AF2 region reported in AIS and applied molecular dynamics simulations to assess the impact of the p.Leu713Pro variant on protein dynamics.Our review of reported AR variants in the AF2 region revealed a spectrum of phenotypic outcomes in AIS patients. Molecular dynamics simulations indicated that the p.Leu713Pro variant significantly alters the local dynamics of the AR protein and disrupts the correlation and covariance between variables.The diverse phenotypic presentations observed among individuals with AR variants in the AF2 region highlight the complexity of AIS. The altered protein dynamics resulting from the p.Leu713Pro variant further emphasize the importance of the AF2 region in AR function.Our study provides valuable insights into AR mutations' phenotypic characteristics and clinical impact on the AF2 region in AIS. Moreover, the disruption of protein dynamics underscores the significance of the AF2 region in AR function and its role in the pathogenesis of AIS. [ABSTRACT FROM AUTHOR]

This study explored the relationship between sexual health indicators and the receipt of, and perceived relevance of, school-based sexuality education. Multiple regression analyses were conducted using data from 4,189 14- to 18-year-olds who participated in a cross-sectional Australian study. Receiving sexuality education was significantly associated with decreased STI risk, decreased experiences of unwanted sex, and better STI knowledge. High perceived relevance of the most recent sexuality education received was significantly associated with confidence and assertiveness in communication, intention to use condoms in the future, and STI knowledge. Sexuality education spanning multiple grades, incorporating topics about contraception, STI prevention and testing, different sexual practices, sexual and gender diversity, and information about sex in general, as well as involvement by an external educator, were significantly associated with higher perceived relevance of sexuality education. Perceived relevance of most recent classes decreased with age, highlighting the need for sexuality education early in the school years to ensure relevance and effectiveness. Findings suggest that strengthened teacher education, which will reduce the need for external educators and increase the frequency of classes, as well as consulting with students about their needs to improve the relevance of sexuality education, may improve young people’s sexual health and experiences. [ABSTRACT FROM AUTHOR]

Introduction: Previous research on parental influences on sexuality has found that parenting styles influence contraceptive use and risky sexual behaviours. However, no studies have examined the effect of parenting styles on the sexual well-being (SWB) of emerging adults more broadly. The aim of the study was to examine the SWB of emerging adults and to explore the relationship between parenting styles and SWB in emerging adulthood. Methods: A sample of 152 Canadian emerging adults 18 to 25 years of age completed an online survey administered via social media from January to February 2021. Participants answered a sociodemographic questionnaire and measures of parenting styles, parent-child sexual communication, and SWB. Results: Emerging adults were found to have healthy sexual well-being (e.g., high sexual satisfaction, low sexual distress). Authoritative parenting was associated with more positive, higher quality parent-child sexual communication, and more positive sexual well-being in emerging adults compared to other parenting styles. Policy Implications and Conclusions: Although more research on this topic is needed, results indicate that parenting styles can affect the sexual development of emerging adults beyond sexual risk. Therefore, parental figures need to be actively involved in educating their children about sexuality and should provide enough support to foster positive sexual development in emerging adulthood. [ABSTRACT FROM AUTHOR]

Practitioners who work with children and young people such as educators, psychologists, and social workers, are required to understand and respond to various sexual behaviours in children and young people. However, there is a dearth of training programmes dealing with sexual development. To reduce over- and under-reporting of risk, which can have serious adverse outcomes, it is essential to educate practitioners in understanding and responding appropriately to sexual behaviours. This study evaluated Traffic Lights® professional development training programme – a one-day programme offered across Queensland, Australia, with the goal of educating practitioners and promoting safe and respectful sexual health among children and young people. Thirty postgraduate psychology students working with/interested in working with children and young people received Traffic Lights® training, and accuracy of understanding and responding to sexual behaviours presented in scenarios was assessed pre- and post-training. Participant responses were scored using criteria developed by a local sexual health organisation's research specialists. Findings revealed no significant improvement in understanding and responding to sexual behaviours in children and young people. Implications of this study include recommendations for small-scale evaluations with sexual health experts and follow-up research, which is critical given the need for evidence-based practice in this area. [ABSTRACT FROM AUTHOR]

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The Myelin Regulator Factor (MYRF) is a master regulator governing myelin formation and maintenance in the central nervous system. The conservation of MYRF across metazoans and its broad tissue expression suggest it has functions extending beyond the well‐established role in myelination. Loss of MYRF results in developmental lethality in both invertebrates and vertebrates, and MYRF haploinsufficiency in humans causes MYRF‐related Cardiac Urogenital Syndrome, underscoring its importance in animal development; however, these mechanisms are largely unexplored. MYRF, an unconventional transcription factor, begins embedded in the membrane and undergoes intramolecular chaperone mediated trimerization, which triggers self‐cleavage, allowing its N‐terminal segment with an Ig‐fold DNA‐binding domain to enter the nucleus for transcriptional regulation. Recent research suggests developmental regulation of cleavage, yet the mechanisms remain enigmatic. While some parts of MYRF's structure have been elucidated, others remain obscure, leaving questions about how these motifs are linked to its intricate processing and function. [ABSTRACT FROM AUTHOR]

The present investigation is part of the Social Networks and Agency Project (SNAP), an 18-month longitudinal mixed methods study following adolescents located in New South Wales, Australia. The SNAP study aims to understand how online and offline social networks impact the development of sexual agency over time. This paper presents an analysis of the second interview time point in the SNAP study. Fifty adolescents (aged 14–17) completed a semi-structured interview either face-to-face or via Skype about their romantic relationships, including where they get their sexual health information and how they flirt (both online and offline). Interviews were transcribed and analyzed using a grounded theory approach. The core theme was: Young people clearly demonstrate emerging sexual agency. The three characterizing themes were: (1) Young people have complex schemas about flirting, dating, and entering romantic and sexual relationships; (2) Young people have high literacy in social media, traditional media and pornography; and (3) Peers influence most aspects of developing sexual agency, including sex and relationship attitudes. We discuss possible methods to utilize adolescents' social networks in facilitating the development of sexual agency. [ABSTRACT FROM AUTHOR]

Data from 484 emerging adults were used to explore sexting within current romantic partnerships. Drawing on recent studies and models of romantic relationship maintenance and behavioral intimacy, sexting was situated as a romantic relationship behavior with the expectation that it would be associated with partnership dynamics (i.e., positive interactions, negative interactions, and commitment). Just over half of emerging adults in the sample were sending sexts to their partners (52.9%). Similarly, 51.9% of them were receiving sexts from their partners. Finally, just under half (47.1%) of surveyed emerging adults were sending and receiving sexts. Most of the non-sexters, reported that they did not want to sext with their partners. There were small but statistically significant differences in partnership dynamics based on sexting behavior. In general, emerging adults who were sexting reported better partnership dynamics (i.e., more positive interactions and commitment) than emerging adults who were not sexting. Overall, sexting with romantic partners appears to be common, but there is a sizable minority of emerging adults who are not sexting and do not want to. Sex and relationship educators can play important roles in helping emerging adults be deliberate in their sexting decision-making, potentially increasing the likelihood that sexting will benefit emerging adults' romantic partnerships. [ABSTRACT FROM AUTHOR]

Sexual development is a complex process of understanding oneself as a sexual being. Youth with spinal cord injury (SCI) navigate the typical phases of sexual development along with the physical and psychological sequelae of an SCI. As youth with SCI progress from adolescence to emerging adulthood, sexual activity—physical intimacy and sexual intercourse—is an important milestone. The aims of the study were to (1) describe frequency of physical intimacy among adults with pediatric-onset SCI and (2) identify injury, demographic, and lifestyle factors that predict frequency of physical intimacy. Adults with pediatric-onset SCI who were former patients within a North American pediatric hospital system (N = 277) completed a structured telephone interview that included medical and sociodemographic information and standardized measures of psychological functioning. Participants rated physical intimacy and sexual intercourse frequency on a 5-point Likert scale, with a response of monthly, weekly, or daily classified as regular frequency and never or yearly as irregular frequency. Bivariate and multivariate analyses were conducted with physical intimacy frequency as the primary outcome. Of the participants, 55% engaged in physical intimacy and 49% engaged in sexual intercourse with regular frequency. In logistic regression analyses, living independently of parents, being married, and higher perceived social integration increased likelihood of regular frequency of physical intimacy. Injury severity and secondary medical complications were not significant independent predictors of frequency of physical intimacy. Half of adults with pediatric-onset SCI engage in regular physical intimacy; this is below the estimates for the general population. Psychosocial factors are stronger contributors to physical intimacy frequency than SCI-related factors. Health care providers and researchers should focus on barriers to social integration and development of social relationships as factors that influence physical intimacy in this population. [ABSTRACT FROM AUTHOR]

Context Small birth size and increased postnatal growth have been associated with earlier timing of adrenarche and puberty, but it is not well known whether these factors alone or together lead to earlier maturation. Objective This work aimed to search for different growth trajectories using a clustering approach to analyze the effects of birth size and postnatal growth on adrenarchal and pubertal development. Methods Altogether 351 children (48% girls) were examined prospectively at ages 6 to 9 and 9 to 11 years. Birth and early-growth data were collected retrospectively. Main outcome measures included clinical signs of adrenarche and puberty, and serum androgen concentrations (dehydroepiandrosterone, dehydroepiandrosterone sulfate, androstenedione, testosterone). Results We detected 4 clusters with different birth sizes and postnatal growth trajectories: 1) children with average birth size and increased postnatal growth (AI), 2) children with small birth size and increased postnatal growth (SI), 3) children with average birth size and postnatal growth (AA), and 4) children with small birth size and average postnatal growth (SA). Thelarche at age 9 to 11 was most common and serum androgens at ages 6 to 9 and 9 to 11 years were highest in girls belonging to the AI and SI groups. Similar patterns in the onset of puberty and in androgen levels were not seen in the SA group. Conclusion Increased early growth and weight gain predict higher serum androgen concentrations and earlier onset of puberty in girls. Adrenarche and puberty do not appear to be shifted earlier in children with small birth size who do not have catch-up growth. [ABSTRACT FROM AUTHOR]

Abstract One of the major factors driving the currently ongoing biodiversity crisis is the anthropogenic spread of infectious diseases. Diseases can have conspicuous consequences, such as mass mortality events, but may also exert covert but similarly severe effects, such as sex ratio distortion via sex‐biased mortality. Chytridiomycosis, caused by the fungal pathogen Batrachochytrium dendrobatidis (Bd) is among the most important threats to amphibian biodiversity. Yet, whether Bd infection can skew sex ratios in amphibians is currently unknown, although such a hidden effect may cause the already dwindling amphibian populations to collapse. To investigate this possibility, we collected common toad (Bufo bufo) tadpoles from a natural habitat in Hungary and continuously treated them until metamorphosis with sterile Bd culture medium (control), or a liquid culture of a Hungarian or a Spanish Bd isolate. Bd prevalence was high in animals that died during the experiment but was almost zero in individuals that survived until the end of the experiment. Both Bd treatments significantly reduced survival after metamorphosis, but we did not observe sex‐dependent mortality in either treatment. However, a small number of genotypically female individuals developed male phenotype (testes) in the Spanish Bd isolate treatment. Therefore, future research is needed to ascertain if larval Bd infection can affect sex ratio in common toads through female‐to‐male sex reversal.

STUDY OBJECTIVE: Infants with genital development considered atypical for assigned female sex may undergo feminizing genitoplasty (clitoroplasty and/or vaginoplasty) in early life. We sought to identify factors associated with parent/caregiver decisions regarding genitoplasty for their children with genital virilization. DESIGN: Longitudinal, observational study SETTING: Twelve pediatric centers in the United States with multidisciplinary differences/disorders of sex development clinics, 2015-2020 PARTICIPANTS: Children under 2 years old with genital appearance atypical for female sex of rearing and their parents/caregivers INTERVENTIONS/OUTCOME MEASURES: Data on the childs diagnosis and anatomic characteristics before surgery were extracted from the medical record. Parents/caregivers completed questionnaires on psychosocial distress, experience of uncertainty, cosmetic appearance of their childs genitalia, and demographic characteristics. Urologists rated cosmetic appearance. For 58 patients from the study cohort with genital virilization being raised as girls or gender-neutral, we compared these data across 3 groups based on the childs subsequent surgical intervention: (i) no surgery (n = 5), (ii) vaginoplasty without clitoroplasty (V-only) (n = 15), and (iii) vaginoplasty and clitoroplasty (V+C) (n = 38). RESULTS: Fathers and urologists ratings of genital appearance were more favorable in the no-surgery group than in the V-only and V+C groups. Clitorophallic length was greater in the V+C group compared with the V-only group, with substantial overlap between groups. Mothers depressive and anxious symptoms were lower in the no-surgery group compared with the V-only and V+C groups. CONCLUSIONS: Surgical decisions were associated with fathers and urologists ratings of genital appearance, the childs anatomic characteristics, and mothers depressive and anxious symptoms. Further research on surgical decision-making is needed to inform counseling practices.

Wildfires drastically impact the soil environment, altering the soil organic matter, forming pyrolyzed compounds, and markedly reducing the diversity of microorganisms. Pyrophilous fungi, especially the species from the orders Pezizales and Agaricales, are fire-responsive fungal colonizers of post-fire soil that have historically been found fruiting on burned soil and thus may encode mechanisms of processing these compounds in their genomes. Pyrophilous fungi are diverse. In this work, we explored this diversity and sequenced six new genomes of pyrophilous Pezizales fungi isolated after the 2013 Rim Fire near Yosemite Park in California, USA: Pyronema domesticum, Pyronema omphalodes, Tricharina praecox, Geopyxis carbonaria, Morchella snyderi, and Peziza echinospora. A comparative genomics analysis revealed the enrichment of gene families involved in responses to stress and the degradation of pyrolyzed organic matter. In addition, we found that both protein sequence lengths and G + C content in the third base of codons (GC3) in pyrophilous fungi fall between those in mesophilic/nonpyrophilous and thermophilic fungi. A comparative transcriptome analysis of P. domesticum under two conditions - growing on charcoal, and during sexual development - identified modules of genes that are co-expressed in the charcoal and light-induced sexual development conditions. In addition, environmental sensors such as transcription factors STE12, LreA, LreB, VosA, and EsdC were upregulated in the charcoal condition. Taken together, these results highlight genomic adaptations of pyrophilous fungi and indicate a potential connection between charcoal tolerance and fruiting body formation in P. domesticum.

Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR) gene. Case presentation: We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel AR variant (c.159_207del). Case-based review: Our report encompasses the complexity of CAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement therapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An algorithm has been formulated for the management of CAIS starting in adolescence, highlighting the conservative approach for those patients unwilling to undergo gonadectomy. Conclusions: Primary amenorrhea and delay in puberty development may provide clues, ultimately leading to a diagnosis of CAIS. This review emphasizes the cruciality of a multidisciplinary approach in managing patients with CAIS, needing for an individualized care to optimize the overall outcome.

The purpose of this study is to determine the effectiveness of an educational program implemented to support the sexual health and development of children with intellectual disabilities, using the Mastery Learning Model, on their knowledge of sexual health and development, as well as on their mothers' awareness of their children's sexual development. This study was conducted as a randomized controlled trial with 48 children who have intellectual disabilities, divided into two groups: an education group (n = 24) and a control group (n = 24). The program implemented was a sexual health and development education program based on the Mastery Learning Model. The data collection tools used were 'The Sexual Development Characteristics of Children with Adolescent Intellectual Disability Scale' for mothers and 'The Sexual Development Knowledge Assessment Scale for Children with Intellectual Disabilities' for children. Following the educational program, the children in the education group demonstrated an increase in knowledge regarding their sexual development and health. Additionally, the mothers in the education group showed an increased awareness of their children's sexual health and development. One month after implementing the education program, which utilized mastery learning, the children in the education group exhibited a greater level of knowledge compared to the control group. This study utilized the Mastery Learning Model to achieve effective and comprehensive sexual health and development education for children with intellectual disabilities. Pediatric and school nurses are recommended to use the Mastery Learning Model for sexual health education in clinics and school health practices. • Sexual health education in children with intellectual disabilities is challenging. • Model-based education programs are needed on this subject. • Mastery Learning Model is an effective method for sexual health education. [ABSTRACT FROM AUTHOR]

Embryonic development and adult physiology are dependent on the action of steroid hormones. In particular, the reproductive system is reliant on hormonal signaling to promote gonadal function and to ensure fertility. Here we will describe hormone receptor functions and their impacts on testicular function, focusing on a specific group of essential hormones: androgens, estrogens, progesterone, cortisol, and aldosterone. In addition to focusing on hormone receptor function and localization within the testis, we will highlight the effects of altered receptor signaling, including the consequences of reduced and excess signaling activity. These hormones act through various cellular pathways and receptor types, emphasizing the need for a multifaceted research approach to understand their critical roles in testicular function. Hormones exhibit intricate interactions with each other, as evidenced, for example, by the antagonistic effects of progesterone on mineralocorticoid receptors and cortisol's impact on androgens. In light of research findings in the field demonstrating an intricate interplay between hormones, a systems biology approach is crucial for a nuanced understanding of this complex hormonal network. This review can serve as a resource for further investigation into hormonal support of male reproductive health. [ABSTRACT FROM AUTHOR]

Previous research has indicated that intersex people face specific challenges in their sexual development, including uncertainties or confusion about their gender, a negative genital self-image, and hesitance to engage in romantic and sexual relationships. However, in-depth knowledge regarding a central period in this development, adolescence, is missing. In our qualitative study, we explore which factors influence the relational and sexual development of intersex youth and what elements contribute to positive development. We interviewed eighteen intersex persons aged 18–38. We identified three main themes: (1) intersex experiences, (2) the described sexual and relational life course, and (3) factors influencing a positive development. Our findings show that intersex youth face many obstacles in their relational and sexual development, many of which are related to healthcare. However, their life stories also illuminate how healthcare professionals, as well as parents, friends, partners, teachers, and others, can make a substantial difference in intersex lives by breaking normative, binary thinking on sex and gender. [ABSTRACT FROM AUTHOR]

Life history theory applied to human development stipulates that humans have evolved to detect and encode information from the early developmental environment that entrain coordinated development pathways. One possible mechanism is epigenetic age acceleration but few studies have prospectively examined associations between epigenetic aging and life-history related phenotypes. The purpose of this study was to examine the relations between epigenetic age acceleration when children were age 7 years and indices of reproductive development during adolescence using a sample of N = 512 youth from the Avon Longitudinal Study of Parents and Children (ALSPAC). A path model was used to test direct and indirect associations between epigenetic age acceleration and age at menarche (AAM), age at first sex, and lifetime and past year sexual partner number. Results showed epigenetic age acceleration was directly associated with earlier age at first sex and increased sexual partner number. There were further indirect associations with sexual partner number via age at first sex. Epigenetic age acceleration was not associated with AAM. Follow-up analyses to determine if aspects of the early developmental environment were associated with age acceleration were null. Implications for life history theory and the need for additional research are discussed. [ABSTRACT FROM AUTHOR]

ABSTRACT Ascospores, forcibly released into the air from perithecia, are the primary inoculum for Fusarium head blight. In Fusarium graminearum, the biological functions of four RNA-dependent RNA polymerases (RdRPs) (Fgrdrp1–4) have been reported, but their regulatory mechanisms are poorly understood and the function of Fgrdrp5 is still unknown. In this study, we found that in addition to Fgrdrp1 and Fgrdrp2, Fgrdrp5 also plays an important role in ascospore discharge, and they all participate in the generation of turgor pressure in a polyol-dependent manner. Moreover, these three genes all affect the maturation of ascospores. Deep sequencing and co-analysis of small RNA and mRNA certified that Fgrdrp1, Fgrdrp2, and Fgrdrp5 partly share their functions in the biogenesis and accumulation of exonic small interference RNA (ex-siRNA), and these three RdRPs negatively regulate the expression levels of ex-siRNA corresponding genes, including certain genes associated with ascospore development or discharge. Furthermore, the differentially expressed genes of deletion mutants, those involved in lipid and sugar metabolism or transport as well as sexual development-related transcription factors, may also contribute to the defects in ascospore maturation or ascospore discharge. In conclusion, our study suggested that the components of the dicer-dependent ex-siRNA-mediated RNA interference pathway include at least Fgrdrp1, Fgrdrp2, and Fgrdrp5.IMPORTANCEWe found that in addition to Fgrdrp1 and Fgrdrp2, Fgrdrp5 also plays important roles in ascospore maturation and ascospore discharge of Fusarium graminearum. These three RNA-dependent RNA polymerases participate in the biogenesis and accumulation of exonic small interference RNA and then regulate ascospore discharge.

The prevalence of hormone-related health issues caused by exposure to endocrine disrupting chemicals (EDCs) is a significant, and increasing, societal challenge. Declining fertility rates together with rising incidence rates of reproductive disorders and other endocrine-related diseases underscores the urgency in taking more action. Addressing the growing threat of EDCs in our environment demands robust and reliable test methods to assess a broad variety of endpoints relevant for endocrine disruption. EDCs also require effective regulatory frameworks, especially as the current move towards greater reliance on non-animal methods in chemical testing puts to test the current paradigm for EDC identification, which requires that an adverse effect is observed in an intact organism. Although great advances have been made in the field of predictive toxicology, disruption to the endocrine system and subsequent adverse health effects may prove particularly difficult to predict without traditional animal models. The MERLON project seeks to expedite progress by integrating multispecies molecular research, new approach methodologies (NAMs), human clinical epidemiology, and systems biology to furnish mechanistic insights and explore ways forward for NAM-based identification of EDCs. The focus is on sexual development and function, from foetal sex differentiation of the reproductive system through mini-puberty and puberty to sexual maturity. The project aims are geared towards closing existing knowledge gaps in understanding the effects of EDCs on human health to ultimately support effective regulation of EDCs in the European Union and beyond.

Introduction: Children are vulnerable to sexual abuse because they are physically weak and cannot defend themselves. Threats to withhold reporting occurrences also frighten people. Sexual violence is usually done by family, neighbors, or relatives. The study aimed to investigate the effectiveness of developing a sexual health education model toward the knowledge and attitude of mothers. Methods: The research method used Quasi-Experimental with nonequivalent Control Group Design. A total of 60 mothers were divided into education and control groups. Knowledge and attitude questionnaires were used. T-test and Wilcoxon Signed Rank Test were used to analyze the difference between the pre-post test within group. Results: The study found that 33 respondents (55%) in the pre-test treatment group had a low knowledge level, and 44 respondents (73.3%) in the post-test treatment group (p = 0.001). The attitude of the respondents in the pre-test treatment group showed that most were poor, 60 respondents (100%), and 31 respondents (51.7%) in the post-test treatment group were poor (0.073). Most of the respondents in the pre-test control group had a low knowledge level of 32 respondents (53.3%), and the post-test control group had a high level of knowledge of 31 respondents (52.1%) (p= 0.000). Most respondents in the pre-test control group had a poor attitude, with 34 respondents (56.7%), and the post-test control group had a good attitude, with 33 respondents (55%) (p = 0.000). Conclusion: The module on sexual development education for children cannot affect people's views on teaching children sexual development.

Background When studying the development of children through the preteen years into adolescence, it is often important to link features of their physical and mental health to the stage of puberty at the time. This is complex since individuals vary substantially in the ages at which they reach different pubertal milestones. Methods The Avon Longitudinal Study of Parents and Children (ALSPAC) is an ongoing longitudinal cohort study based in southwest England that recruited over 14000 women in pregnancy, with expected dates of delivery between April 1991 and December 1992. From 1999, information on puberty was collected using a number of different methods : (a) A series of annual questionnaires were administered when the index children were aged between eight and 17 years; these were mainly concerned with the physical changes associated with puberty; (b) identification of the age at peak height growth using the SITAR methodology; and (c) retrospective information from the girls on their age at onset of menstruation (menarche). Results The advantages and disadvantages of each method are discussed. Conclusions The data are available for analysis by interested researchers.

ABSTRACT Peroxisomes are versatile organelles that are essential for diverse developmental processes. Peroxisome function critically depends on its matrix proteins, which are imported from the cytosol by the receptors Pex5 and Pex7. These receptors cycle into and out of peroxisomes through two membrane protein channels. Cargo-loaded Pex5 is imported into peroxisomes through the docking/translocation machinery, which is composed of Pex13 and Pex14. After cargo delivery, Pex5 is exported through the peroxisome ubiquitin ligase complex. This complex also ubiquitinates the receptors dictating their membrane extraction by the peroxisome AAA ATPase complex. In the fungus Podospora anserina, peroxisomes are required for meiotic induction. This process relies on PEX13 but not on PEX14. In addition, PEX14 is partially dispensable for peroxisome protein import during meiotic development, suggesting a developmental regulation of the translocation machinery. Here we show that PEX13 abundance in hyphae is maintained at low levels by the activity of the peroxisome ubiquitin ligase complex and the ubiquitin-conjugating enzyme PEX4, in conjunction with PEX14, PEX5, and with the peroxin that bridges the ubiquitination and the docking/translocation machineries, PEX8. Moreover, we found that the AAA ATPase complex and the peroxins that drive peroxisome membrane formation—PEX3 and PEX19—are also required to restrain PEX13 levels and that in their absence PEX13 associates with mitochondria. Furthermore, we found that PEX13 levels are higher throughout sexual development, where they are further increased during meiocyte and meiotic-spore differentiation. Our findings show that the peroxisome protein translocation machinery is subject to complex developmental regulation, which finely modulates PEX13 along sexual development. IMPORTANCE Sexual reproduction allows eukaryotic organisms to produce genetically diverse progeny. This process relies on meiosis, a reductional division that enables ploidy maintenance and genetic recombination. Meiotic differentiation also involves the renewal of cell functioning to promote offspring rejuvenation. Research in the model fungus Podospora anserina has shown that this process involves a complex regulation of the function and dynamics of different organelles, including peroxisomes. These organelles are critical for meiosis induction and play further significant roles in meiotic development. Here we show that PEX13—a key constituent of the protein conduit through which the proteins defining peroxisome function reach into the organelle—is subject to a developmental regulation that almost certainly involves its selective ubiquitination-dependent removal and that modulates its abundance throughout meiotic development and at different sexual differentiation processes. Our results show that meiotic development involves a complex developmental regulation of the peroxisome protein translocation system.

Partial androgen insensitivity syndrome is a rare X-linked disorder. While most cases are sporadic, familial cases are less frequent. The management of this syndrome follows a multidisciplinary approach involving hormone substitution, psychological counseling, and surgical procedures. We present a case series of three young siblings with familial partial androgen insensitivity syndrome who presented with a female phenotype. All of them were managed with hormonal treatment for 6 months followed by surgical reconstruction. The operative procedure involved phalloplasty and urethroplasty using amniotic membrane transplant, which is considered a novel technique in this group of patients. No intraoperative or postoperative complications were observed and good results were achieved within 2 years of follow-up. [ABSTRACT FROM AUTHOR]

This study aimed to (1) describe male mildly intellectually disabled (MID) adolescents' general romantic and sexual development, education experience with topics on sexuality and relationships, and frequency of undesirable sexual behaviors and experiences; and (2) explore how sexuality related attitudes, self-esteem, sexual knowledge, and resilience to peer pressure link to MID male adolescents' sexual and dating violence (SDV) perpetration, SDV victimization and sexual risk behavior. We used baseline data from a randomized controlled trial on a program for psychosexual health promotion and prevention of undesirable sexual experiences for MID male adolescents (N = 120, Mage = 15.03 years), assessed with self-report questionnaires. We examined cross-sectional associations with correlations and (logistic) regression analyses between sexuality-related attitudes, global self-esteem, sexual knowledge, and resilience to peer pressure with SDV perpetration, SDV victimization and behavioral intentions following sexual rejection. Results indicated that male MID adolescents were romantically and sexually active, and reported unsafe sex, 47.7% experienced SDV perpetration and 33.9% victimization. Positive attitudes towards dating violence were associated with having experienced both SDV perpetration and victimization, and more adherence to heterosexual double standards was related to more negative and fewer positive behavioral intentions upon sexual rejection. Participants who experienced SDV victimization had more sexual knowledge. Self-esteem and resilience to peer pressure were unrelated to SDV. Concluding, male MID adolescents are similarly sexually active to the general population but may need more guidance in the form of timely, tailored prevention and education. We provide concrete suggestions such as focusing on changing attitudes and practicing skills. [ABSTRACT FROM AUTHOR]

Background: Traditional school-based sexuality education has a myriad of problems with its successful delivery, including access to comprehensive sexuality curricula, access to trained facilitators, and community and parental fears. As an alternative form of sexuality education, The Sex Wrap podcast is released in weekly episodes of about 20–45 min, providing listeners with diverse, evidence-based sexual health information. Methods: Participants in a larger mixed-methods study evaluating The Sex Wrap were invited to participate in qualitative in-depth interviews to explore their experiences with sexuality education, including The Sex Wrap , and how they relate to information received through the podcast. Seventeen interviews were conducted with listeners of The Sex Wrap , aged 20–25 years old. Results: One core category and three axial codes were identified in the interview data. The core category is: sexuality education is an ongoing process that includes learning and unlearning. The three temporally related axial codes are: (1) experiences with formal and informal sexuality education (mostly negative) drove participants to seek more information about sex, (2) participants use The Sex Wrap as a way of exploring and personalising information about sexuality, and (3) participants equipped with comprehensive sexuality education are empowered to educate their peers. Conclusions: This study suggests that podcast-based interventions, such as The Sex Wrap , can play a key role in young people's process of sexuality education and should be considered for incorporation into other forms of sex education. Sex education is critical to young peoples sexual development, yet traditional school-based sex education is often limited and non-inclusive. The present study explores young peoples' perceptions of a podcast-based sex education intervention, The Sex Wrap , and finds that young people listeners actively sought out comprehensive, inclusive sexual health information to inform their ongoing process of sex education. This study suggests that podcasts can be a powerful tool for sex education and their effectiveness should be further studied. [ABSTRACT FROM AUTHOR]

Background: Menarche is a substantial milestone of female puberty. Timing of age at menarche is considered the key to understanding the potential linkages with women's health outcomes later in life. This study aimed to explore the secular trends and urban‒rural disparities in the median age at menarche among Chinese Han girls from 1985 to 2019. Methods: Data were extracted from the 1985, 1995, 2005, 2014, and 2019 Chinese National Surveys on Students' Constitution and Health, which were nationally representative cross-sectional studies, and a total of 173,535 Han girls aged 9–18 years were examined. Girls were asked whether menarche had occurred. The median age at menarche was estimated by probit analysis. Z tests were used to compare the differences between survey years and between urban and rural areas. Results: The median age at menarche among Chinese Han girls decreased from 13.37 years in 1985 to 12.00 years in 2019, and the overall decrease was more significant in rural areas (1.77 years) than in urban areas (0.99 years). The average five-year change in the decrease in the median age at menarche showed an accelerating and then slowing pace; and it was observed similarly in both urban and rural areas. The urban‒rural disparities shrank from 0.64 years in 1985 to 0.44 years in 1995, then to 0.27 years in 2005, 0.24 years in 2014, and finally to − 0.14 years in 2019. Conclusions: The median age at menarche among Chinese Han girls continued to decline from 1985 to 2019 but at a slowing pace in the last five years. Urban‒rural disparities gradually narrowed. Sexual and reproductive health education and interventions to prevent the decline in the age of menarche are needed, especially in rural areas. [ABSTRACT FROM AUTHOR]

Introduction: The apicomplexan parasite Cystoisospora suis has global significance as an enteropathogen of suckling piglets. Its intricate life cycle entails a transition from an asexual phase to sexual development, ultimately leading to the formation of transmissible oocysts. Methods: To advance our understanding of the parasite's cellular development, we complemented previous transcriptome studies by delving into the proteome profiles at five distinct time points of in vitro cultivation through LC/MS-MS analysis. Results: A total of 1,324 proteins were identified in the in vitro developmental stages of C. suis, and 1,082 proteins were identified as significantly differentially expressed. Data are available via ProteomeXchange with identifier PXD045050. We performed BLAST, GO enrichment, and KEGG pathway analyses on the upand downregulated proteins to elucidate correlated events in the C. suis life cycle. Our analyses revealed intriguing metabolic patterns in macromolecule metabolism, DNA- and RNA-related processes, proteins associated with sexual stages, and those involved in cell invasion, reflecting the adaptation of sexual stages to a nutrient-poor and potentially stressful extracellular environment, with a focus on enzymes involved in metabolism and energy production. Discussion: These findings have important implications for understanding the developmental biology of C. suis as well as other, related coccidian parasites, such as Eimeria spp. and Toxoplasma gondii. They also support the role of C. suis as a new model for the comparative biology of coccidian tissue cyst stages. [ABSTRACT FROM AUTHOR]

Genetic elements encoded in nuclear DNA determine the sex of an individual in many animals. In certain bivalve lineages that possess doubly uniparental inheritance (DUI), mitochondrial DNA (mtDNA) has been hypothesized to contribute to sex determination. In these cases, females transmit a female mtDNA to all offspring, while male mtDNA (M mtDNA) is transmitted only from fathers to sons. Because M mtDNA is inherited in the same way as Y chromosomes, it has been hypothesized that mtDNA may be responsible for sex determination. However, the role of mitochondrial and nuclear genes in sex determination has yet to be validated in DUI bivalves. In this study, we used DNA, RNA, and mitochondrial short noncoding RNA (sncRNA) sequencing to explore the role of mitochondrial and nuclear elements in the sexual development pathway of the freshwater mussel Potamilus streckersoni (Bivalvia: Unionida). We found that the M mtDNA sheds a sncRNA partially within a male-specific mitochondrial gene that targets a pathway hypothesized to be involved in female development and mitophagy. RNA-seq confirmed the gene target was significantly upregulated in females, supporting a direct role of mitochondrial sncRNAs in gene silencing. These findings support the hypothesis that M mtDNA inhibits female development. Genome-wide patterns of genetic differentiation and heterozygosity did not support a nuclear sex-determining region, although we cannot reject that nuclear factors are involved with sex determination. Our results provide further evidence that mitochondrial loci contribute to diverse, nonrespiratory functions and additional insights into an unorthodox sex-determining system. [ABSTRACT FROM AUTHOR]

Despite being collectively among the most frequent congenital developmental conditions worldwide, differences of sex development (DSD) lack recognition and research funding. As a result, what constitutes optimal management remains uncertain. Identification of the individual conditions under the DSD umbrella is challenging and molecular genetic diagnosis is frequently not achieved, which has psychosocial and health-related repercussions for patients and their families. New genomic approaches have the potential to resolve this impasse through better detection of protein-coding variants and ascertainment of under-recognized aetiology, such as mosaic, structural, non-coding or epigenetic variants. Ultimately, it is hoped that better outcomes data, improved understanding of the molecular causes and greater public awareness will bring an end to the stigma often associated with DSD.

Most animal species consist of two distinct sexes. At the morphological, physiological, and behavioral levels the differences between males and females are numerous and dramatic, yet at the genomic level they are often slight or absent. This disconnect is overcome because simple genetic differences or environmental signals are able to direct the sex-specific expression of a shared genome. A canonical picture of how this process works in insects emerged from decades of work on Drosophila. But recent years have seen an explosion of molecular-genetic and developmental work on a broad range of insects. Drawing these studies together, we describe the evolution of sexual dimorphism from a comparative perspective and argue that insect sex determination and differentiation systems are composites of rapidly evolving and highly conserved elements.