research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
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90-120 / 1000+ resultsresearch Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Wokeness in Our Practice
Dermatologists should address discrimination and consider ethnic and gender differences in treatments.
research Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency
Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Fertility counseling and preservation: considerations for the pediatric endocrinologist
Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.
research Testosterone: The Male Sex Hormone
More research is needed to understand how testosterone is maintained in adult males.
research The diversity of sex development: What do conditions affecting sex development teach us about sexual diversity?
Conditions affecting sex development show that sexual diversity is a natural part of human variation.
research Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.
research Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’s Health
Loss of the Y chromosome in men is linked to health issues like heart disease and cancer.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Dihydrotestosterone induces arterial stiffening in female mice
Dihydrotestosterone makes arteries stiffer in female mice by reducing estrogen receptor expression.
research Recent advances in neuropeptide-related omics and gene editing: Spotlight on NPY and somatostatin and their roles in growth and food intake of fish
New tools show that in fish, NPY increases feeding and somatostatin decreases it.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Ovine Hair Follicle Stem Cells Derived from Single Vibrissae Reconstitute Haired Skin
Ovine hair follicle stem cells can regenerate haired skin and may improve wool production.
research Association of Acne Tarda with Endocrinological Disorders
Adult acne is often related to hormonal disorders, especially in women, and may need long-term treatment involving specialists.
research Changes in bone mineral density in women with early-onset androgenetik alopecia and their correlations with hair-loss stages: a cross-sectional study
Women with early-onset baldness should be checked for early bone loss, but bone density doesn't change with baldness severity.
research Generating iPSCs with a High-Efficient, Non-Invasive Method—An Improved Way to Cultivate Keratinocytes from Plucked Hair for Reprogramming
The conclusion is that the new method makes collecting cells from plucked hair to create stem cells more efficient and less invasive.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research Investigation of intermolecular interactions in finasteride drug crystals in view of X-ray and Hirshfeld surface analysis
Finasteride crystals are held together by hydrogen bonds and weak interactions, forming synthon pseudopolymorphs.
research Dissection of genetic variation and evidence for pleiotropy in male pattern baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research Roles of steroid sulfatase in brain and other tissues
Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
research Colour Dilution Alopecia (CDA) in Ten yorkshire Terriers
Yorkshire Terriers with Colour Dilution Alopecia have reduced melanin and hair structure issues.
research Structural characterization of polymorphs and molecular complexes of finasteride
Finasteride's molecular and crystal structures help develop new drug formulations.
research Structural studies of two solid steroid compounds
Androsterone and finasteride have different solid forms, with new findings correcting previous errors and identifying a new form.
research Structural & functional studies of L-PGDS and SMPDL3A enzymes in lipid signaling family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.