20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
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.
1 citations
,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
12 citations
,
October 2001 in “Pediatric Dermatology” Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
34 citations
,
August 2005 in “Veterinary Dermatology” Goats may need lifelong zinc supplements due to hereditary zinc absorption issues.
18 citations
,
January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
11 citations
,
October 1941 in “Experimental Biology and Medicine” PABA helps prevent gray hair and hair loss in mice.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
49 citations
,
April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
18 citations
,
August 2012 in “Cutaneous and Ocular Toxicology” People with alopecia areata have higher insulin resistance.
2 citations
,
February 2021 in “Endocrinology, diabetes & metabolism case reports” A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
1 citations
,
September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
309 citations
,
June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
20 citations
,
February 1968 in “Journal of Histochemistry & Cytochemistry” A new test more accurately detects citrulline in hair follicles and pilomatrixomas.
The document concludes that the girl's hairlessness is likely inherited from her parents.
1 citations
,
December 2022 in “Plants” CSLD1 suppresses rice root hair growth with NH4+ and regulates AMT1;2 expression.
July 2020 in “Benha Journal of Applied Sciences” Young men with early hair loss and high SAA3 levels are at higher risk for heart disease.
76 citations
,
December 2011 in “Journal of Cell Science” Different keratin types have unique amino acid patterns that are evolutionarily conserved.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
54 citations
,
November 1995 in “The Journal of Clinical Endocrinology & Metabolism” Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
1 citations
,
May 2007 in “PubMed” Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
March 1983 in “Annals of Internal Medicine” 5-Aminosalicylic acid enemas may cause immediate hair root damage and hair loss.
1 citations
,
September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
9 citations
,
July 1993 in “Archives of dermatology” Pityriasis amiantacea is a scalp condition with thick, greasy scales and sometimes hair loss.
1 citations
,
June 2016 in “Annals of the rheumatic diseases” Retinoids may help treat lupus nephritis and reduce steroid use.
1 citations
,
February 1991 in “Journal of Biological Chemistry” 40 citations
,
July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
2 citations
,
January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
26 citations
,
April 2007 in “Journal of pediatric gastroenterology and nutrition” A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.