2 citations
,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
September 2002 in “Fertility and sterility” Female relatives of PCOS patients have a higher chance of showing PCOS symptoms.
99 citations
,
December 2010 in “Journal of The European Academy of Dermatology and Venereology” The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
9 citations
,
November 2013 in “Presse Medicale” The document concludes that managing female hyperandrogenism requires a combination of identifying the cause, lifestyle changes, medication, and cosmetic treatments.
6 citations
,
January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
4 citations
,
January 2014 in “Dermatology” A woman with acne and baldness was found to have a rare ovarian condition but successfully had a child through fertility treatment.
June 2025 in “Journal of Endocrinological Investigation” Adrenal disorders often cause high blood pressure in young people.
3 citations
,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
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.
102 citations
,
April 2014 in “PloS one” Wharton’s Jelly stem cells from the umbilical cord improve skin healing and hair growth without scarring.
13 citations
,
October 2021 in “International Journal of Molecular Sciences” The HATMSC1 cell line from fat tissue can produce helpful factors for regenerative and immune therapies.
4 citations
,
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.
May 2011 in “Journal of pediatric nursing” A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
234 citations
,
November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
49 citations
,
June 2019 in “eLife” Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
17 citations
,
January 2007 in “Annals of Medicine” Cutaneous gene therapy could become a viable treatment for skin and hair disorders with improved vector development and gene expression control.
8 citations
,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
5 citations
,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
4 citations
,
January 2014 in “Stem Cell Discovery” Stem cells can be reprogrammed for various treatments, but safety and expansion challenges remain.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
6 citations
,
July 2019 in “Experimental Dermatology” Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
49 citations
,
March 2017 in “PubMed” Enhancers and super-enhancers are key in controlling specific gene activity and can play a role in cancer development.
71 citations
,
October 2017 in “Journal of Investigative Dermatology” PPAR-γ agonists like pioglitazone may help manage lichen planopilaris but don't fully reverse scarring.
49 citations
,
December 2007 in “Fertility and Sterility” Stopping finasteride improved sperm counts in two men, reducing the need for fertility treatments.
45 citations
,
November 2021 in “Fertility and Sterility” The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
25 citations
,
July 2015 in “EMBO Reports” Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
20 citations
,
November 2020 in “Stem Cell Research & Therapy” Enhanced stem cells from the placenta can help treat Graves' eye disease by stopping fat cell growth.
17 citations
,
January 2023 in “Frontiers in Cell and Developmental Biology” iPSCs are promising for studying and treating COVID-19.