January 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.
8 citations,
March 2020 in “Frontiers in Cell and Developmental Biology” Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.
1 citations,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
8 citations,
April 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The first pediatric case of naevus trichilemmocysticus was documented.
May 2021 in “Journal of Advances in Internal Medicine” A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
39 citations,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
2 citations,
March 2011 in “Infertility” The conclusion is that lifestyle changes and weight loss are first-line treatments for infertility due to anovulation, with various medications and assisted reproductive technologies as additional options.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
54 citations,
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.
26 citations,
August 2019 in “Stem Cell Research & Therapy” PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
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.
218 citations,
December 2011 in “Advances in Urology” The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
54 citations,
July 2002 in “Clinical and Experimental Dermatology” DHT, a testosterone byproduct, causes male pattern baldness.
1 citations,
May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
15 citations,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
25 citations,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
45 citations,
February 2001 in “Joint bone spine” Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
23 citations,
January 2007 in “Archives of Andrology” Finasteride may negatively affect male fertility.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
5 citations,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
January 2024 in “Women's health science journal” Hormonal imbalances are a key cause of missed menstrual periods in women.
2295 citations,
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.
855 citations,
June 2009 in “The Journal of Clinical Endocrinology & Metabolism” The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.
46 citations,
September 2011 in “Journal of Endocrinology” Natural 5α-reduced glucocorticoids might be anti-inflammatory with fewer side effects than current options.
7 citations,
January 2003 in “Elsevier eBooks” Testosterone is crucial for development, growth, and various body functions in mammals.
1 citations,
September 2015 in “Serbian Journal of Dermatology and Venereology/Serbian Journal of Dermatology and Venerology” A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.