31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
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.
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.
10 citations
,
April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
January 2011 in “International Journal of Trichology” The document concludes that doctors should recognize congenital triangular alopecia to avoid unnecessary treatments, as it does not respond to steroids like alopecia areata does.
January 2026 in “International Journal of Science and Research (IJSR)” Unani medicine and modern dermatology both offer treatments for ichthyosis, a condition causing dry, scaly skin.
53 citations
,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
66 citations
,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
14 citations
,
January 2018 in “Advances in Clinical Chemistry” The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
7 citations
,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
1 citations
,
November 2005 in “Journal of Andrology” The meeting highlighted promising genetic treatments for male fertility issues but noted concerns about certain cancer risks and ICSI safety.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
2 citations
,
August 2024 in “Indian Dermatology Online Journal” Premature graying of hair is mainly caused by genetics, stress, and environment, with potential treatments being explored.
July 2012 in “Hair transplant forum international” Lifestyle choices like stress, smoking, heavy drinking, sun exposure, and chemical hair treatments might speed up hair loss in people with androgenetic alopecia.
26 citations
,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
2 citations
,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
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.
31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
July 2022 in “International journal of KIU” Genetics influence opioid addiction risk, diet affects COVID-19 severity, Aerva lanata may harm kidneys, some plants fight fungi and cancer, and nursing students need better contraceptive knowledge.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
1 citations
,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
18 citations
,
April 2016 in “Endocrinology and Metabolism Clinics of North America” The document concludes that diagnosing PCOS in teenagers is difficult and should focus on specific hormone levels and menstrual irregularities, while also considering treatment for symptoms and related health issues.
14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
991 citations
,
January 2011 in “Nature Reviews Endocrinology” The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.