October 2022 in “International journal of dermatology and venereology” A woman's sudden hair loss was linked to azathioprine use despite normal enzyme levels, and improved after stopping the drug and starting treatment.
1 citations
,
September 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
January 2021 in “Pediatric Oncall” Autoimmune hepatitis in children often affects girls and can be treated successfully with medication.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
5 citations
,
January 2021 in “Indian Journal of Critical Care Medicine” Testing for the NUDT 15 variant is crucial before starting azathioprine, especially in Asians.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
1 citations
,
August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
December 2015 in “Basrah Journal of veterinary Research” Buffaloes in Basrah, Iraq, often lack minerals like zinc and copper, leading to health issues.
25 citations
,
September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
February 2024 in “Pediatrics in review” A 15-year-old girl with missed periods was diagnosed with a pituitary disorder and treated with hormones and steroids.
June 2025 in “British Journal of Dermatology” Consider amyloidosis in patients with specific nail changes and check for systemic issues.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
December 2015 in “PLOS ONE”
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
13 citations
,
July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
4 citations
,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
1 citations
,
June 2020 in “Journal of AOAC INTERNATIONAL” Two new methods accurately measure Aminexil, Pyridoxine, and Niacinamide in hair products.
5 citations
,
January 2014 in “Indian Journal of Nephrology” A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
62 citations
,
March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
January 2007 in “日本看護学会抄録集 成人看護1” Certain amino acids in 5AR1 and 5AR2 are crucial for binding and resistance to Finasteride.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
The woman's skin and health issues were due to a severe zinc deficiency.
June 2023 in “International Journal of Research in Dermatology” Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.
1 citations
,
September 1996 in “Journal of the European Academy of Dermatology and Venereology” Biotin supplements may help hair regrowth in some alopecia areata patients.