13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
4 citations
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August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
2 citations
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July 2022 in “Frontiers in Veterinary Science” A female dog with mixed male and female traits was treated successfully with surgery.
131 citations
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January 2018 in “Scientific Reports” Mycorrhiza helps trifoliate orange grow better roots and handle drought.
1 citations
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September 2023 in “International Journal of Women’s Dermatology” Dermatologists are crucial in providing personalized care for patients with sex development differences.
January 2017 in “Springer eBooks” Understanding genes and hormones is crucial for managing male puberty and sex development disorders.
July 2025 in “Dermatologica Sinica” Glycyrrhizin may help regrow hair by activating a specific pathway.
April 2023 in “Dermatologica Sinica” Sex hormones affect hair growth and loss, and treatments for related hair diseases include various medications, hair transplantation, and light therapy.
2295 citations
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August 2012 in “The international journal of transgenderism/International journal of transgenderism” The guidelines recommend informed consent for gender-affirming treatments and stress the importance of personalized, culturally sensitive care for transgender individuals.
September 2021 in “Physiology News” Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.
September 2021 in “Physiology News” Addressing underrepresentation in Parkinson's research is crucial for better treatments and understanding.
5 citations
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December 2021 in “Pediatric investigation” Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
19 citations
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May 2020 in “American journal of men's health” Testosterone therapy helps boys with hormone deficiencies develop normal male characteristics and grow properly.
1 citations
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May 2023 in “European Journal of Human Genetics” 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.
September 2021 in “Physiology News” Conditions affecting sex development show that sexual diversity is a natural part of human variation.
46 citations
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
May 2021 in “Journal of Advances in Internal Medicine” A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
70 citations
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April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.