71 citations
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January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
8 citations
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December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
1 citations
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January 2013 in “Pediatric Annals” The girl's thin hair was due to loose anagen syndrome, not other hair loss types.
April 2025 in “International Journal of Research in Dermatology” Thyroid disorders are linked to skin issues and autoimmune skin diseases.
August 2018 in “Journal of The American Academy of Dermatology” Children with alopecia areata should only get thyroid screening if they have Down syndrome, a family history of thyroid disease, atopy, or signs of thyroid problems.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
December 2024 in “NeoReviews” Early diagnosis and management of congenital heart block in mothers with autoimmune conditions are crucial for improving neonatal outcomes.
September 2025 in “Tijdschrift voor Geneeskunde” Diagnosing thyroid disorders is complex and requires thorough testing due to nonspecific symptoms like hair loss.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
25 citations
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April 2012 in “Veterinary and comparative oncology” Megavoltage radiation therapy extended survival in rabbits with thymomas, especially in those weighing more than 1.57 kg.
October 2024 in “Journal of the Endocrine Society” Acute illnesses like sepsis can disrupt thyroid hormone balance without central hypothyroidism.
111 citations
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May 2001 in “Human reproduction update” Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
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.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
28 citations
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June 2021 in “Frontiers in immunology” A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
15 citations
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June 2015 in “PLoS ONE” Thymosin beta-4 promotes hair growth in mice.
April 2026 in “Reviews in Medical Virology” Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
21 citations
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December 1977 in “Journal of pediatric surgery” Individuals with male pseudohermaphroditism often do better raised as females with early surgery.
January 2024 in “Case Reports in Endocrinology” Cortisone tapering may help improve severe myasthenia gravis and alopecia areata after thymectomy.
November 2022 in “Journal of the Endocrine Society” Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
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.
September 2016 in “Journal of The American Academy of Dermatology” The girl has a genetic hair condition causing thin hair since childhood.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
November 2025 in “Вопросы современной педиатрии” Treating Netherton syndrome with growth hormone and dupilumab improves growth safely.