3 citations
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April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
September 2015 in “Turkish Journal of Endocrinology and Metabolism” Consider Werner syndrome in young patients with early aging signs and metabolic issues.
October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
December 2022 in “Journal of Medical Case Reports” A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
June 2020 in “AACE clinical case reports” A woman's severe male hormone excess was caused by a small, hard-to-find ovarian tumor.
56 citations
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March 2010 in “Journal of Dermatology” Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
2 citations
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September 1971 in “Metabolism, clinical and experimental” Dihydrotestosterone has a reduced effect on muscle-building in people with testicular feminization syndrome, especially after their gonads are removed.
27 citations
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June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
85 citations
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September 2013 in “International Journal of Molecular Sciences” Keratin 15 is not a reliable sole marker for identifying epidermal stem cells because it's found in various cell types.
19 citations
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May 2014 in “Molecules” Avicequinone C, a compound found in the Avicennia marina plant, can reduce hair loss by inhibiting a hormone linked to androgenic alopecia.
17 citations
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March 2012 in “The Journal of Pathology” In vivo lineage labelling is better than in vitro methods for identifying and understanding stem cells.
7 citations
,
January 1990 in “Eisei kagaku” Chemical analysis of hair products on human hair can help identify specific brands and link suspects to victims.
6 citations
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October 2021 in “Indian Journal of Plastic Surgery” Eyebrow restoration using FUE is effective with careful planning and technique.
Oral contraceptives may cause significant hair loss in women.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
2 citations
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January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
July 2024 in “Journal of Pediatric Endocrinology and Metabolism” Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
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.
June 2023 in “British Journal of Dermatology” A person with Werner syndrome was initially thought to just have female pattern hair loss.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
10 citations
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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.