49 citations,
January 2010 in “International Journal of Pediatric Endocrinology” The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
44 citations,
June 2012 in “Endocrinology” High levels of androgens during early development may cause PCOS-like symptoms.
42 citations,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
25 citations,
March 2012 in “Journal of oncology pharmacy practice” An 81-year-old man's white hair began to regain its original color while he was treated with lenalidomide, suggesting that graying hair might be reversible.
16 citations,
December 2001 in “Dermatologic Therapy” Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
8 citations,
October 1988 in “Clinics in dermatology” The best animal model for studying male-pattern baldness is the stumptailed macaque, not rats or mice.
7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
1 citations,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
1 citations,
January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
78 citations,
August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
58 citations,
September 2012 in “Dermatologic Clinics” Male pattern hair loss caused by follicular miniaturization; early diagnosis and treatment can reduce psychological burden.
56 citations,
December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
54 citations,
July 2002 in “Clinical and Experimental Dermatology” DHT, a testosterone byproduct, causes male pattern baldness.
53 citations,
January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Reduced AR gene methylation may cause early pubic hair growth in girls.
52 citations,
June 2009 in “Current Opinion in Endocrinology, Diabetes and Obesity” The document concludes that hair transplantation and gene therapy may be important for future hair loss treatment.
51 citations,
January 2012 in “Annals of Dermatology” Asian hair loss differs from Europeans; consider individual needs and psychological well-being for treatment.
49 citations,
January 2003 in “American Journal of Clinical Dermatology” Effective management of children's hair loss involves accurate diagnosis, various treatments, and supportive care.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
47 citations,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
43 citations,
March 2011 in “Journal of psychosomatic research” Kids with alopecia areata may experience more stress but not necessarily feel more anxious or depressed than others.
40 citations,
April 2018 in “Endocrine” PFS and PSSD are similar conditions with persistent sexual dysfunction after stopping medication.
38 citations,
February 2012 in “British Journal of Dermatology” AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
38 citations,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
36 citations,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
36 citations,
September 2009 in “Journal of Cellular and Molecular Medicine” New treatments targeting skin stem cells show promise for skin repair, anti-aging, and cancer therapy.