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.

Physiological and behavioural characterisation of a novel steroid sulfatase-deficient mouse

This study creates a STS-deficient mouse model and finds sex-specific behavioral and physiological differences linked to STS deficiency.

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.

Testosterone exposure during fetal masculinization programming window determines the kidney size in adult mice.

The paper shows that fetal testosterone deficiency reduces adult male kidney size in mice by affecting growth pathways.

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.

Fetal Dehydroepiandrosterone from Hair Samples at Birth Predicts Language Development

This study finds that fetal DHEA levels measured in newborn hair predict lower language scores at six months, while testosterone and cognitive abilities are not associated.

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.

HIGH PRECISION CHARACTERIZATION OF RCCX REARRANGEMENTS IN A 21-HYDROXYLASE DEFICIENCY LATIN AMERICAN COHORT USING OXFORD NANOPORE LONG READ SEQUENCING

This study uses Oxford Nanopore long-read sequencing to characterize RCCX rearrangements in a Latin American 21-hydroxylase deficiency cohort, identifying new genetic variants and reclassifying a previously overlooked case.

NR2F2 is required in the embryonic testis for Fetal Leydig Cell development

This study shows NR2F2 is essential for fetal Leydig cell development in mouse testes and links it to 46, XY DSD associated with NR2F2 variants.

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.

Transcriptional comparison of Testicular Adrenal Rest Tumors with fetal and adult tissues

This study compares the transcriptome of Testicular Adrenal Rest Tumors with fetal and adult tissues to determine their origin and identify clinically relevant pathways.

Distal-less homeobox genes Dlx5/6 regulate Mulllerian duct regression

This study investigates the role of Dlx5 and Dlx6 in AMH-induced Mullerian duct regression in male mice, finding that they act redundantly to mediate this process.

Digit ratio (2D:4D) and amniotic testosterone and estradiol: An attempted replication of Lutchmaya et al. (2004)

This paper attempts to replicate Lutchmaya et al. (2004) findings on the relationship between amniotic testosterone/estradiol ratios and digit ratios but finds no consistent evidence for the original effects.

No Evidence for a Difference in 2D:4D Ratio between Youth with Elevated Prenatal Androgen Exposure due to Congenital Adrenal Hyperplasia and Controls

This study examines whether 2D:4D differs between youth with congenital adrenal hyperplasia and controls, finding no significant difference.

Characterization of Mice Bearing Humanized Androgen Receptor Genes (h/mAr) Varying in Polymorphism Length

This study characterizes the effects of varying humanized androgen receptor Q tract lengths on brain anatomy and behavior in mice, finding non-linear neuroanatomical changes and no behavioral effects.

Digit ratio (2D:4D) and congenital adrenal hyperplasia (CAH): Systematic literature review and meta-analysis

This paper conducts a meta-analysis of 2D:4D ratios in individuals with congenital adrenal hyperplasia compared to controls, finding reduced ratios in males but not females and a smaller overall effect size than a prior study.

Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia

This study compares brain volumes in youth with congenital adrenal hyperplasia to healthy controls, finding reduced volumes in specific prefrontal cortex, amygdala, and hippocampal regions.

Alternative pathway androgen biosynthesis and human fetal female virilization

The paper demonstrates an alternative androgen biosynthesis pathway in human fetal females with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency, leading to virilization despite low circulating androgens.

Does testosterone impair men’s cognitive empathy? Evidence from two large-scale randomized controlled trials

This study investigates whether testosterone impairs cognitive empathy in men through two large-scale trials, finding no evidence of impairment or association with digit ratios.

Mast Cells in the Developing Brain Determine Adult Sexual Behavior

The paper shows that mast cells in the developing brain, influenced by estradiol, shape adult sexual behavior through histamine and prostaglandin signaling.

2D:4D and spatial abilities: From rats to humans

This study confirms the link between 2D:4D ratio and spatial performance in rats and humans, and identifies brain correlates in humans.

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.