research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
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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 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.
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 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 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
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 Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
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 Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
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.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Testicular Steroidogenesis
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
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 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 Anti-TNF antibody-induced psoriasiform skin lesions in patients with inflammatory bowel disease are characterised by interferon-γ-expressing Th1 cells and IL-17A/IL-22-expressing Th17 cells and respond to anti-IL-12/IL-23 antibody treatment
Anti-IL-12/IL-23 antibody therapy effectively treats psoriasiform skin lesions in IBD patients.
research Adult Patients with Aphallia: Were they Fertile?
The document does not determine if adults with aphallia are fertile.
research Mycorrhiza stimulates root-hair growth and IAA synthesis and transport in trifoliate orange under drought stress
Mycorrhiza helps trifoliate orange grow better roots and handle drought.
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 Compound glycyrrhizin promotes hair growth in C57BL/6 mice by regulating the Wnt/β-catenin pathway
Glycyrrhizin may help regrow hair by activating a specific pathway.
research Current understanding and treatment of sex hormone-related hair diseases
Sex hormones affect hair growth and loss, and treatments for related hair diseases include various medications, hair transplantation, and light therapy.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty
Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.