Descriptive Study of Gender Dysphoria and Sexual Behavior in a Disorder of Sex Development Group

AIS, androgen receptor, disorders of sex development (DSD), geneticsAndrogen insensitivity syndrome (AIS) is a rare genetic disorder that affects the development of the male reproductive system in individuals with a 46,XY karyotype. In addition to physical impacts, patients with AIS may face psychological distress and social challenges related to gender identity and acceptance. The major molecular etiology of AIS results from hormone resistance caused by mutations in the X-linked androgen receptor (AR) gene. Depending on the severity of androgen resistance, the wide spectrum of AIS can be divided into complete AIS (CAIS), partial AIS (PAIS), or mild AIS (MAIS). Open issues in the treatment and management of AIS include decisions about reconstructive surgery, genetic counseling, gender assignment, timing of gonadectomy, fertility and physiological outcomes. Although new genomic approaches have improved understanding of the molecular causes of AIS, identification of individuals with AIS can be challenging, and molecular genetic diagnosis is often not achievable. The relationship between AIS genotype and phenotype is not well established. Therefore, the optimal management remains uncertain. The objective of this review is to outline the recent progress and promote understanding of AIS related to the clinical manifestation, molecular genetics and expert multidisciplinary approach, with an emphasis on genetic etiology.

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“…Male PAIS patients often present with psychiatric and psychological problems due to clinical symptoms of poor virilization (45,47).…”

Section: Discussionmentioning

confidence: 99%

Molecular genetics and general management of androgen insensitivity syndrome

Chen

Пин

Lyu

et al. 2023

IRDR

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Psychosocial Challenges and Strategies for Rehabilitation in Children with Differences in Sex Development

Joseph

2024

Children With Differences in Sex Development

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The science of child and adolescent mental health in Brazil: a nationwide systematic review and compendium of evidence-based resources

Marchionatti,

Campello,

Veronesi

et al. 2024

Preprint

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BackgroundBrazil is home to 50 million children and adolescents, whose mental health needs require context-sensitive research. Although scientific output is growing in the country, publications are scattered and often inaccessible. MethodsThis systematic review compiles prevalence estimates, assessment instruments, and interventions for child and adolescent mental health in Brazil (PROSPERO registration: CRD42023491393). We searched international (PubMed, Web of Science, PsycINFO, Google Scholar) and national (Scielo, Lilacs, Brazilian Digital Library of Theses and Dissertations) databases up to July 2024. Reference lists, reviews, and experts were consulted. Extraction followed Consensus-based Standards for the selection of health Measurement Instruments (COSMIN) and Cochrane manuals. ResultsThis review appraises 734 studies on 2,576 prevalence estimates, 908 studies on 912 instruments, and 192 studies on 173 intervention trials. Point prevalence of any mental disorder ranged from 10.8% (age 12) to 19.9% (ages 7 to 14), although a nationally-representative study is lacking. There is a rise of self-harm notifications, reaching 133.1 in 2019 (per 100,000 aged 10-19). Indigenous youth face suicide rates of 11 (age 10 to 14), far exceeding national averages (0.652). There is severe violence exposure (21% of adolescents reported domestic physical violence in the previous month), disproportionately impacting Black youth and heightening risks for depression and substance use. Reliable instruments exist for assessing psychopathology, yet most lack psychometric and cross-cultural validation. Interventions remain under-implemented; the largest trials adapted international substance-use prevention programs, showing null effects. High-quality studies are mainly funded by public investment. DiscussionThis compilation provides accessible data for professionals, facilitating translation of science to practice. Brazilian sociocultural challenges impact youth mental health, with public health priorities including violence, systemic racism, and indigenous youth suicide. National research must develop culturally-sensitive resources for mental health, including scalable interventions focused on social minorities. FundingThe Stavros Niarchos Foundation.

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Descriptive Study of Gender Dysphoria and Sexual Behavior in a Disorder of Sex Development Group

Cited by 3 publications

References 28 publications

Molecular genetics and general management of androgen insensitivity syndrome

Molecular genetics and general management of androgen insensitivity syndrome

Psychosocial Challenges and Strategies for Rehabilitation in Children with Differences in Sex Development

The science of child and adolescent mental health in Brazil: a nationwide systematic review and compendium of evidence-based resources

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