research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
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research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Medical Care for Children and Adolescents with Gender Dysphoria and Gender Inconsistency in Light of Current Recommendations: How to Implement the 'Primum Non Nocere' Principle?
The safety and effectiveness of gender-affirming treatments for children are uncertain, with potential long-term risks like infertility.
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 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 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 Abstracts From The 55th European Society Of Human Genetics 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 Clinical Biochemistry of Dihydrotestosterone
Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
research Gonadal Sex Steroids: Production, Action, and Interactions in Mammals
The document concludes that sex hormones are crucial for mammalian reproduction, health, and behavior, and require more research for therapeutic use.
research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
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 Polycystic Ovary Syndrome: Anogenital Distance as a Marker of Prenatal Androgenic Environment and Review and Comparison of Diagnostic Criteria
Longer anogenital distance may indicate a higher chance of having polycystic ovary syndrome, and measuring this distance along with hormone levels could improve diagnosis.
research Assessment of Anogenital Distance as a Diagnostic Tool in Polycystic Ovary Syndrome
Measuring the distance from the anus to the clitoris may moderately help diagnose polycystic ovary syndrome, especially in certain cases.
research Application of Acyzol in the Context of Zinc Deficiency and Perspectives
Acyzol could help treat conditions caused by zinc deficiency.
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 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 Disorders in Male Sexual Differentiation Due to 5α-Reductase-2 Deficiency
5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Steroid Hormones of Reproduction and Sexual Development
Sex hormones affect reproduction, sexual development, and oral health, and it's important for dental practitioners to understand their effects and interactions.
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 Precocious Puberty: Isosexual Precocious Puberty and Its Implications
Early sexual development in children, especially girls, can be treated with hormone therapy to improve adult height and requires support for the child and family.
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 Testosterone Hormone: Clinical Indications, Dysregulation, and Therapeutic Methods
Testosterone is vital for male health, and its deficiency is linked to aging and common health issues.
research Steroids And Steroid-Like Compounds
Athletes use steroids to enhance performance despite health risks and legal issues, and education on their dangers is needed.
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 Testosterone: The Male Sex Hormone
More research is needed to understand how testosterone is maintained in adult males.
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 Characteristics of Physical and Sexual Development of Girls Conceived by Assisted Reproductive Technologies
Girls conceived via assisted reproductive technologies show early puberty signs and larger ovaries.
research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.