September 2002 in “Fertility and sterility” Female relatives of PCOS patients have a higher chance of showing PCOS symptoms.
December 2020 in “Skin appendage disorders” Finasteride may effectively treat hair loss in Klinefelter Syndrome patients.
June 2019 in “Stem Cell Research” Scientists created MUSIi010-A, a stem cell line from a balding man's scalp, to study hair loss and develop potential treatments.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
35 citations,
June 2005 in “The Milbank Quarterly” The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.
31 citations,
April 2019 in “Cell reports” Patient-derived melanocytes can potentially treat vitiligo by restoring skin pigmentation.
15 citations,
September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
9 citations,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
7 citations,
January 2015 in “Case reports in endocrinology” The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
7 citations,
July 2014 in “Reproductive Biomedicine Online” The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
5 citations,
January 2021 in “iScience” Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
3 citations,
January 2014 in “Elsevier eBooks” Different stem cells have benefits and challenges for tissue repair, and more research is needed to find the best types for each use.
3 citations,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
2 citations,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
1 citations,
April 2017 in “Journal of Investigative Dermatology” CCL5 is important for the hair growth potential of human dermal papilla cells.
1 citations,
September 2013 in “Fertility and Sterility” Finasteride may improve sperm count in subfertile men with low sperm count.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
February 2022 in “Obstetrics and gynaecology cases - reviews” PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
April 2017 in “Journal of Investigative Dermatology” Deleting the CRIF1 gene in mice disrupts skin and hair formation, certain proteins affect hair growth, a new compound may improve skin and hair health, blood cell-derived stem cells can create skin-like structures, and hair follicle stem cells come from embryonic cells needing specific signals for development.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
April 2017 in “Journal of Investigative Dermatology” Applying pseudoceramide improved skin and hair health.
April 2017 in “Journal of Investigative Dermatology” Blood cells turned into stem cells can become skin cells similar to normal ones, potentially helping in skin therapies.
April 2017 in “Journal of Investigative Dermatology” Stem cells can create hair follicles, potentially treating permanent hair loss, and healthy skin and hair depend on mitochondrial function and special fats.
1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
September 2021 in “Physiology News” Conditions affecting sex development show that sexual diversity is a natural part of human variation.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
11 citations,
February 2019 in “Stem cells international” Skin-derived stem cells grow faster and are easier to obtain than hair follicle stem cells, but both can become various cell types.
9 citations,
October 2017 in “Translational pediatrics” Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.