9 citations
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November 2014 in “Indian Journal of Endocrinology and Metabolism” A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
Ultrasound alone isn't enough to diagnose PCOS.
3 citations
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February 2021 in “Pediatric rheumatology online journal” A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
1 citations
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January 2015 in “Advanced techniques in biology & medicine” Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
April 2017 in “Journal of Investigative Dermatology” Scientists can control how skin stem cells divide by using different treatments.
March 2023 in “Pediatrics & neonatology” A baby girl had two brain-related growths removed and is developing normally.
32 citations
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November 2006 in “Veterinary dermatology” Congenital alopecia in domestic animals is rare and involves abnormal hair follicle development, needing better understanding and classification.
2 citations
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October 2017 in “Revista Da Associacao Medica Brasileira” Removing p16INK4a from skin cells can lead to faster and more clumped growth, which might help with hair growth.
April 2023 in “Journal of Investigative Dermatology” ALRN-6924 can protect hair follicles from chemotherapy damage by temporarily stopping cell division.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
25 citations
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September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
143 citations
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January 2007 in “The American Journal of Human Genetics” Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
7 citations
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February 2025 in “Stem Cell Research & Therapy” Human hair follicle stem cells improve ovarian function in mice with damaged ovaries.
10 citations
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October 2000 in “PubMed” E6/E7 oncogenes in hair follicles cause continuous hair growth by skipping the resting phase.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
6 citations
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March 2009 in “Annals of Saudi Medicine” Finasteride use during early pregnancy may cause limb deformities in babies.
37 citations
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February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
7 citations
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January 2025 in “Archives of Gynecology and Obstetrics” Differentiating PCOS from NCAH helps improve diagnosis and treatment.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.