48 citations,
June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
18 citations,
January 2020 in “Journal of Clinical Research in Pediatric Endocrinology” The document concludes that Functional Hypothalamic Amenorrhea should be carefully diagnosed and managed to prevent health complications, using lifestyle changes and specific medications.
80 citations,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
38 citations,
October 2006 in “Fertility and Sterility” The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
21 citations,
November 2014 in “Journal of Endocrinological Investigation” Cross-sex hormone therapy is important for managing gender dysphoria and requires careful monitoring and healthcare provider education.
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.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
6 citations,
July 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
1 citations,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
February 2024 in “Endocrinology and Disorders” Balanced hormones are crucial for women's health, and can be managed with lifestyle changes or hormone therapy if needed.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
88 citations,
May 2012 in “Human Reproduction Update” Women with PCOS may take longer to get pregnant but can have a normal family size, and should manage their overall health to reduce long-term health risks.
70 citations,
March 2016 in “Urologic Clinics of North America” The document explains how the male reproductive system works, its role in making testosterone, and how conditions like obesity can disrupt it, leading to low testosterone and fertility issues.
22 citations,
June 2004 in “Journal of The European Academy of Dermatology and Venereology” A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
2 citations,
October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
January 2024 in “Women's health science journal” Hormonal imbalances are a key cause of missed menstrual periods in women.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
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.
April 2019 in “Journal of the Endocrine Society” A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
116 citations,
August 2010 in “Nature” Scientists turned rat thymus cells into stem cells that can help repair skin and hair.
3 citations,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
3 citations,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
July 2019 in “Mayo Clinic proceedings” The man's fatigue and erectile dysfunction were improved by treating his obesity-related low testosterone without needing testosterone replacement.
Accurate diagnosis and timely, tailored treatments improve outcomes in obstetrics and gynecology.
April 1974 in “Pediatric Research” The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
39 citations,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
5 citations,
December 2004 in “Dermatology” Two women with very high androgen levels had only slight skin issues, one due to a non-classical adrenal disorder and the other due to an adrenal tumor.
1 citations,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.