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.
Search
for
Sort by
Research
30 / 1000+ results 
research Steroidogenesis of the Testis: New Genes and Pathways
New genes and pathways are important for testosterone production and male sexual development.
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 Testicular Steroidogenesis: Production and Regulation of Testosterone and Dihydrotestosterone
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 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 New Insights Into Testosterone Biosynthesis: Novel Observations From HSD17B3 Deficient Mice
Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
research The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases
The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
research 5α-Reduced Glucocorticoids: A Story of Natural Selection
Natural 5α-reduced glucocorticoids might be anti-inflammatory with fewer side effects than current options.
research Basics of Androgen Synthesis and Action
Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
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 The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research The Diversity of Sex Development: What 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 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.
research Clinical Biochemistry of Dihydrotestosterone
Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
research The Story of When Kidneys Fail and the Contribution of Air Vice-Marshal Sir Ralph Jackson
Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.
research Tackling Underrepresentation to Aid Understanding of Parkinson’s Disease: Progress and Further Opportunities
Addressing underrepresentation in Parkinson's research is crucial for better treatments and understanding.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
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 Aromatase Deficiency in a Male Patient: Case Report and Literature Review
A male with aromatase deficiency improved bone health with estradiol treatment.
research Menstrual Disorders: Comprehensive Overview and Diagnostic Approaches
The document says menstruation is important for women's health, discusses menstrual disorders, and suggests personalized treatment options.
research 5-Alpha-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 Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research 46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A 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 A 14-Year-Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Role of 5α-Reductase in Health and Disease
5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.
research Current Evaluation of Amenorrhea
Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.
research Current Evaluation of Amenorrhea
Amenorrhea, or the absence of periods, should be evaluated by age 15 or within five years of early breast development, and is most commonly caused by conditions like polycystic ovary syndrome and hypothalamic amenorrhea.
research Androgen Effects in Mammals
Testosterone is crucial for development, growth, and various body functions in mammals.
research Androgen Treatment in Adolescent Males With Hypogonadism
Testosterone therapy helps boys with hormone deficiencies develop normal male characteristics and grow properly.