October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
August 2019 in “Anais Brasileiros de Dermatologia” December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
December 2024 in “AACE Clinical Case Reports” Ovarian hyperthecosis can cause polycythemia, and surgery can normalize symptoms.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
13 citations
,
June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
1 citations
,
January 2018 in “Pediatrics in review” A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
December 2025 in “JGH Open” Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
19 citations
,
May 1984 in “Digestive diseases and sciences” A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
1 citations
,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
176 citations
,
August 1981 in “JAMA” Toxic Shock Syndrome mainly affects menstruating women, can recur, and is linked to staph bacteria, with rapid treatment being crucial.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
3 citations
,
May 2019 in “Ginekologia Polska” Adolescents with abnormal uterine bleeding often have polycystic ovarian syndrome and insulin resistance.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
2 citations
,
May 2018 in “Diagnosis” A 68-year-old woman developed male traits due to a tumor in her ovary, which was removed, returning her hormone levels to normal.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
18 citations
,
January 2015 in “Data series” Hurricane Sandy increased contamination in estuarine sediments in New Jersey and New York.
3 citations
,
April 2018 in “Holzforschung” Scientists found a new natural compound and other known compounds in Cercidiphyllum japonicum twigs, which might be useful for medicine.
1 citations
,
February 2024 in “International Journal of Pharmacognosy & Chinese Medicine” Hibiscus rosa-sinensis Linn. has many medicinal benefits and needs proper identification for effective use.
1 citations
,
January 2019 in “International Journal of ChemTech Research” Eclipta prostrata has many medicinal benefits, but more research is needed to understand how it works.
October 2025 in “Current Pharmaceutical Research” The herbal shampoo effectively cleans hair and scalp while being environmentally friendly.