46 citations,
October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
May 2021 in “Journal of Advances in Internal Medicine” A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
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.
19 citations,
May 2020 in “American journal of men's health” Testosterone therapy helps boys with hormone deficiencies develop normal male characteristics and grow properly.
131 citations,
September 2017 in “Molecular and Cellular Endocrinology” The document concludes that blocking the internal pathways that create androgens might help treat cancers that depend on sex hormones.
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
39 citations,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
70 citations,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
September 2021 in “Physiology News” Conditions affecting sex development show that sexual diversity is a natural part of human variation.
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.
8 citations,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
30 citations,
July 2004 in “Fertility and Sterility” Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.
21 citations,
September 2004 in “Fertility and Sterility” Amenorrhea, or the absence of periods, should be evaluated by age 15 or within five years of early breast development, and is most commonly caused by conditions like polycystic ovary syndrome and hypothalamic amenorrhea.
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.
January 2024 in “Women's health science journal” Hormonal imbalances are a key cause of missed menstrual periods in women.
9 citations,
October 2017 in “Translational pediatrics” Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.
1 citations,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
19 citations,
January 2013 in “Pediatrics in review” The document says menstruation is important for women's health, discusses menstrual disorders, and suggests personalized treatment options.
78 citations,
November 2008 in “Fertility and Sterility” Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
September 2021 in “Physiology News” Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.
September 2021 in “Physiology News” Addressing underrepresentation in Parkinson's research is crucial for better treatments and understanding.
35 citations,
May 2022 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
38 citations,
October 2006 in “Fertility and Sterility” The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
120 citations,
April 2019 in “The Journal of clinical investigation/The journal of clinical investigation” Both estrogens and androgens are important for health in both males and females.