Sexual Differentiation and Disorders

Inter- and intra-individual trajectories of brain sex in different neuroendocrine profiles

The paper uses machine learning to analyze brain sex classification from MRI data and links brain sex fluctuations to neuroendocrine profiles in individuals with different hormonal states.

Sex Differences in Human Subcortical Anatomy are Robust and Replicable in Adulthood, Already Evident Prepubertally, and Aligned with Sex Chromosomal and Gonadal Influences

The role of miscarriage and sororal birth order in male same-sex orientation: Theoretical predictions and empirical data

This study investigates the biological mechanisms behind male same-sex orientation, finding that miscarriage rates may explain some birth order effects, though discrepancies suggest additional factors.

Biallelic CYB5A disruptions in 46,XY Disorder of Sex Development: Identification and Characterization of a Novel Deep Intronic Variant

The paper identifies and characterizes a novel deep intronic variant in CYB5A causing 46,XY DSD through whole-genome sequencing and functional assays.

MAP3K7 novel variants in syndromic 46,XY DSD

This paper reports three novel MAP3K7 variants in 46,XY DSD patients with syndromes CSCF or FMD2, showing their role in male sex differentiation through GATA4/FOG2 expression and Wnt signaling.

Prenatal corticosteroid exposure disrupts vascular-immune interactions and impairs steroidogenesis in the fetal testis

Prenatal corticosteroid exposure disrupts immune-vascular interactions and impairs steroidogenesis in the fetal testis, revealing potentially widespread effects of a commonly used therapy.

Gonadal and sex chromosomal contributions to sex differences in mammalian brain organization

The paper quantifies gonadal and sex chromosome dosage contributions to sex differences in brain volume across multiple regions in mice, revealing their combined effects on anatomical and cellular gene expression.

High-Resolution Variant Profiling of CAH-Associated Genes Using a Long-Read Sequencing Assay

NanoCAH, a long-read sequencing assay, accurately detects all known variants and resolves haplotypes in CAH-associated genes, outperforming conventional methods.

Intersex/Differences of Sex Development (I/DSD) Traits: Exploring Their Association with 15% of Phenotypically Detailed Genetic Disorders

The paper identifies 15.5% of phenotypically detailed genetic disorders in OMIM associated with I/DSD-related HPO terms, highlighting their broader systemic impact and the need for a continuum-based understanding of I/DSD.

Evidence for NR2F2/COUP-TFII involvement in human testis development

The paper investigates the role of NR2F2/COUP-TFII in human testis development by analyzing a pathogenic variant in a 46,XY DSD patient and shows its impact on steroidogenic lineage activation.

Sex, gender diversity, and brain structure in children ages 9 to 11 years old

This study examines the relationship between sex, gender diversity, and brain structure in children aged 9-11, finding that sex explains some variance while gender diversity does not independently predict neurostructural differences.

Genetic Association Studies in Transgender Cohorts: A Systematic Review and Meta-Analysis

This study conducts a meta-analysis of genetic association studies in transgender cohorts, finding a significant overrepresentation of short ESR1 alleles in transgender women compared to cisgender men.

Hypothalamic vasopressin sex differentiation is established during embryonic neurogenesis

The paper shows that hypothalamic vasopressin neurons are sexually dimorphic during embryonic neurogenesis, with exposure to bisphenol A causing masculinization in female brains.

Estrogen receptor alpha is required in GABAergic, but not glutamatergic, neurons to masculinize the brain

The paper shows that estrogen receptor alpha is required in GABAergic neurons, but not glutamatergic neurons, for masculinizing brain regions and male behaviors in rodents.