7 citations
,
October 2019 in “Case reports in endocrinology” A young woman's symptoms suggested PCOS, but tests and surgery confirmed and treated a rare ovarian tumor, resolving her condition.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
December 1981 in “ビジネスコミュニケ-ション” TRPV1 affects sebaceous gland function and could help treat acne.
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.
October 2023 in “Journal of the Endocrine Society” Machine learning identified three unique subtypes of androgen excess in women with PCOS, each with different metabolic risks.
July 2025 in “Journal of Investigative Dermatology”
2 citations
,
December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
December 2004 in “SUNScholar (Stellenbosch University)” Certain genetic markers can indicate a person's risk of developing prostate cancer.
December 2023 in “Indian Journal of Endocrinology and Metabolism” Early diagnosis, genetic testing, and innovative treatments are crucial for managing complex medical conditions.
5 citations
,
March 2001 in “Journal of Clinical Gastroenterology” 37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
May 2018 in “Hair transplant forum international” The document's conclusion cannot be summarized because the content is not accessible or understandable.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
23 citations
,
June 2015 in “Clinica Chimica Acta” Researchers found potential urine markers for polycystic ovary syndrome, including testosterone-glucuronide and 11α-hydroxyprogesterone, which may help diagnose the condition.
6 citations
,
May 1997 in “Journal of Dermatological Science” Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
July 2003 in “Hair transplant forum international” The document's conclusion cannot be provided because the document is not accessible or understandable.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
March 2023 in “The Journal of Urology” Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.
40 citations
,
October 2009 in “Journal of Biomedical Nanotechnology” Pyrene excimer nucleic acid probes are promising for detecting biomolecules accurately with potential for biological research and drug screening.
The document doesn't provide enough information to summarize.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
37 citations
,
April 2010 in “FEBS Letters” The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
September 2008 in “Hair transplant forum international” The document's conclusion cannot be determined.
153 citations
,
April 2009 in “Urology” Prostate cancer was a major health issue in 2009, especially for Black men, and targeting the 5alpha-reductase enzyme could help in its prevention and treatment.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
20 citations
,
October 2001 in “British Journal of Ophthalmology”
May 2021 in “Journal of the Endocrine Society” A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.