research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
Search
for
Sort by
Research
30 / 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 Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Gonadal dysgenesis and bone metabolism
Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
research Primary Amenorrhoea
Early investigation and a team approach are crucial for managing primary amenorrhea effectively.
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Gonads
The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
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 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 Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
research The First Visit: Consult and Workup Before Sperm Banking
A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
research Long non-coding RNA Xist contribution in systemic lupus erythematosus and rheumatoid arthritis
Females are more prone to lupus and arthritis due to X chromosome factors.
research Wokeness in Our Practice
Dermatologists should address discrimination and consider ethnic and gender differences in treatments.
research The diversity of sex development: What do 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 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 SAT-148 Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights
Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
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 CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
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 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 DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research XX/XY chimerism in tortoiseshell tomcats – a new case and review of the literature
Tortoiseshell tomcats with XX/XY chimerism can be fertile.