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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120-150 / 1000+ resultsresearch Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Epithelial-to-Mesenchymal Stem Cell Transition in a Human Organ: Lessons from Lichen Planopilaris
PPAR-γ agonists like pioglitazone may help manage lichen planopilaris but don't fully reverse scarring.
research Fertility evaluation of infertile women: a committee opinion
The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
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 Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors
A female dog with mixed male and female traits was treated successfully with surgery.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
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 Hirsutism-A Comprehensive Update of Embryology, Aetiopathogenesis and Therapeutic Approach
The document concluded that more research is needed to understand how estrogen affects the enzyme involved in hirsutism development.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Propecia-induced spermatogenic failure: a report of two cases
Stopping finasteride improved sperm counts in two men, reducing the need for fertility treatments.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Pharmacological Efficacy of Tamarix aphylla: A Comprehensive Review
Tamarix aphylla may be effective for various medical conditions, but more research is needed to confirm its safety and effectiveness.
research JAK inhibition decreases the autoimmune burden in Down syndrome
JAK inhibition may help manage autoimmune conditions in Down syndrome.
research Research Relevant Conditions and Pathology in Nonhuman Primates
Nonhuman primates are valuable in research but their natural health variations can complicate study results.
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 Genome Report: chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)
The improved genome of the African spiny mouse will help understand its tissue regeneration abilities.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women
Evaluate and manage androgen excess in women with a systematic approach, considering both physical and psychological impacts.
research Functional and long-lived melanocytes from human pluripotent stem cells with transient ectopic expression of JMJD3
Stem cells can be used to create long-lasting skin cells for treating pigment disorders.
research Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries
Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
research Primary cutaneous diffuse large B‑cell lymphoma of the scalp: A case report and brief review of the literature
Lymphoma should be considered in unusual scalp hair loss cases, as treatment can work but may lead to severe complications.
research Semen Cryopreservation in Testicular Cancer: Before or After Orchidectomy?
Post-orchidectomy semen has better DNA integrity for fertility treatments.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Approach to the Patient: Diagnostic Challenges in the Work Up for Polycystic Ovary Syndrome
Diagnosing PCOS is challenging due to its complex and varied symptoms.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.