June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
59 citations
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August 2007 in “Clinical Endocrinology” The current methods for diagnosing polycystic ovary syndrome are too vague and may lead to misdiagnosis and problems in research.
15 citations
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January 2015 in “Clinical and Experimental Reproductive Medicine” Taiwanese women with PCOS experience different symptoms based on age, with younger women facing more hormone imbalances and older women dealing with more metabolic issues.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
1 citations
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March 2024 in “Türk Kadın Sağlığı ve Neonatoloji Dergisi” PCOS is common in women, often treated with lifestyle changes and oral contraceptives.
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
14 citations
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January 2025 in “Reproductive Medicine and Biology” PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
3 citations
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March 2024 in “Journal of Dermatological Treatment” Baricitinib can lead to hair regrowth in alopecia areata but may also cause relapses.
April 2023 in “Journal of Investigative Dermatology” An automated method accurately assesses melanoma risk using 3D body images to analyze skin traits.
April 2023 in “Elsevier eBooks” PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
October 2023 in “Dermatology practical & conceptual” Folliculitis Decalvans and Frontal Fibrosing Alopecia can coexist in people with darker skin, showing features of both conditions.
23 citations
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March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
14 citations
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March 2022 in “Clinical Endocrinology” The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
3 citations
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January 2021 in “Journal of The American Academy of Dermatology” Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
21 citations
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March 2023 in “Journal of Crohn s and Colitis” Microvascular damage and platelet issues persist in ulcerative colitis remission, helping assess disease states.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
16 citations
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February 2016 in “Gynecological Endocrinology” Indian women with PCOS from Delhi and Srinagar show different symptoms, with Delhi women having higher obesity and blood sugar issues, and Srinagar women showing more hair growth and testosterone levels.
9 citations
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January 1997 in “Endocrine Journal” Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
January 2026 in “International Journal of Dermatology” APKH in young males may signal early hair loss and needs early attention.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
12 citations
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July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
December 2022 in “Nepal Journal of Obstetrics and Gynaecology” The most common form of PCOS in the group was anovulatory PCOS, with no cases of obese PCOS, highlighting the importance of assessing lean women with menstrual issues.
Women with PCOS have different body composition and some metabolic differences compared to healthy women.