20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
17 citations,
May 2021 in “Journal of Assisted Reproduction and Genetics” COVID-19 may harm male fertility and damage the reproductive system.
13 citations,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
6 citations,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
4 citations,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
1 citations,
January 2006 in “Elsevier eBooks” The conclusion is that different types of hair loss in dogs and cats can be cosmetic or serious, and affected animals should not be bred.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic 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.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
2 citations,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
1 citations,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
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.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
June 2023 in “Journal of personalized medicine” Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
1 citations,
May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
May 2021 in “Journal of the Endocrine Society” A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
May 2021 in “Journal of the Endocrine Society” The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
January 2020 in “Proyecto de investigación:” Longer anogenital distance may indicate a higher chance of having polycystic ovary syndrome, and measuring this distance along with hormone levels could improve diagnosis.
May 1948 in “Journal of the American Medical Association” The reply suggests checking for false positive or asymptomatic syphilis and using penicillin for treatment if necessary.
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.
65 citations,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
1 citations,
September 2013 in “Fertility and Sterility” Finasteride may improve sperm count in subfertile men with low sperm count.
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.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
28 citations,
January 2011 in “Hearing Research” Gene therapy, especially using atoh1, shows promise for creating functional sensory hair cells in the inner ear, but dosing and side effects need to be managed for clinical application.
24 citations,
January 2017 in “Pediatric dermatology” 1% anthralin ointment is effective and safe for treating severe alopecia areata in children.
15 citations,
August 2002 in “British Journal of Ophthalmology” Intralesional cidofovir might be a viable alternative treatment for certain conditions.