research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
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research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
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 Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research In vivo hair re-growth efficacies of minoxidil preparations: distearyldimethylammonium chloride vesicles, cellulose acetate phthalate microparticles, and poloxamer solution
Minoxidil in distearyldimethylammonium chloride vesicles significantly promotes hair growth, while minoxidil in microparticles or poloxamer solutions doesn't.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Lupus Eritematosus Sistemik pada Pria
Men with systemic lupus erythematosus often have more severe symptoms but can respond well to treatment.
research Bullous lesions in patients with cutaneous lupus erythematosus: A clinicopathologic study
Careful histologic examination is crucial to differentiate types of bullous lesions in cutaneous lupus erythematosus.
research Infliximab Induced Lupus in Crohnʼs Disease
Infliximab can trigger lupus-like symptoms in Crohn's disease patients.
research Current and future perspectives on clinical management of classic 21-hydroxylase deficiency
Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.
research The Plastic and Functional Changes in Hippocampal Neurons During Pregnancy, Delivery and Postpartum are Reversed by Offspring Deprivation
Pregnancy and nursing increase certain brain activities in rats, but these changes disappear when the babies are taken away.
research Physiology of Male Gonadotropic Axis and Disorders of Sex Development
Understanding genes and hormones is crucial for managing male puberty and sex development disorders.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Clinical Profile and Outcomes of Patients With Systemic Lupus Erythematosus
Early detection and targeted management are crucial for better outcomes in systemic lupus erythematosus.
research Terapi Efluvium Telogen pada SLE dengan Minoksidil 2% dan Antioksidan Oral: Satu Laporan Kasus
Minoxidil and oral antioxidants helped improve hair growth in a patient with hair loss due to lupus.
research Immunotherapeutic effects of allogeneic mesenchymal stem cells on systemic lupus erythematosus
Early treatment with the right dose of stem cells can reduce lupus symptoms.
research Clinical and immunological characteristics of 56 patients with systemic lupus erythematosus in Uganda
SLE is rare in Uganda but often has complications and overlaps with rheumatoid arthritis.
research Life threatening macrophage activation syndrome as the initial presentation of systemic lupus erythematosus: A case report and review of the literature
Macrophage activation syndrome can be a deadly first sign of systemic lupus erythematosus.
research A Case of Rhupus with Rowell Syndrome
A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
research Lupus erythematosus tumidus (LET) with autoimmune thyroid dysfunction (AITD) as the first presentation of systemic lupus erythematosus: A case report and review of the literature
Recognizing LET and AITD can help diagnose SLE early for better treatment.
research Late Onset Systemic Lupus Erythematosus - Clinical and Autoantibody Profile and its Comparison with Young Onset Systemic Lupus Erythematosus
Late onset SLE has different symptoms and antibody profiles compared to young onset SLE.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
research IMPORTANCE OF SEQUENTIAL FOLLOW-UP OF AUTOANTIBODIES IN ANA-POSITIVE PATIENTS WITH DIFFUSE HAIR LOSS
Regular monitoring of autoantibodies in ANA-positive patients with hair loss helps detect and treat lupus early.
research Drug History and SLE Laboratory Findings Among Iraqi Patients: A Hospital‐Based Study
SLE in Iraqi patients often involves hair loss and photosensitivity, with common treatments being corticosteroids and immunosuppressants.
research GPX4 mRNA levels in the PMNs are negatively correlated with autoantibody production, disease activity and lupus alopecia in SLE
Lower GPX4 mRNA levels are linked to higher disease activity and symptoms in lupus patients.
research Systemic Lupus Erythematosus in India: A Clinico-Serological Correlation
Early identification of lupus through skin signs and blood tests is crucial in India.