August 2020 in “Nigerian journal of paediatrics” A 24-month-old Nigerian girl developed early puberty with no family history, needing treatment her family couldn't afford.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
January 2019 in “Springer eBooks” Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
Hormones, especially testosterone and DHT, are key for penis development and function, and testosterone therapy may help with erectile dysfunction in those with low levels.
The conclusion is that endocrinology significantly impacts medicine with various common medications used for treatment.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
July 2015 in “Cambridge University Press eBooks” The document concludes that careful history and physical exams are crucial for accurately diagnosing polycystic ovary syndrome and distinguishing it from other similar conditions.
January 2014 in “European Geriatric Medicine” A postmenopausal woman's virilization was caused by a rare ovarian tumor that was hard to detect but was successfully treated with surgery.
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.
January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
July 1980 in “Journal of The American Academy of Dermatology” The conference concluded that understanding hair and nail disorders is important, iron deficiency may be linked to hair loss, and while some treatments for skin conditions are effective, they may have risks and high costs.
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.
10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
8 citations,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
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.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
71 citations,
May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” TTD hair brittleness is caused by multiple structural abnormalities.
37 citations,
January 2005 in “Clinics in dermatology” Recent progress has been made in understanding inherited hair and nail disorders.
37 citations,
January 2003 in “Journal of the European Academy of Dermatology and Venereology” Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
9 citations,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
3 citations,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
1 citations,
December 2019 in “Frontiers in endocrinology” Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.