April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
November 2022 in “Journal of the Endocrine Society” Removing the ovarian tumor improved the woman's hormonal symptoms.
10 citations
,
November 1997 in “British Journal of Dermatology” A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.
11 citations
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March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
16 citations
,
May 2013 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome is reversible by treating the gut issues and doesn't need steroid treatment for the hair itself.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
3 citations
,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
October 2013 in “International Journal of Pediatric Endocrinology/International journal of pediatric endocrinology” A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
July 2020 in “Endocrine practice” A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
Higher alarin levels might link hair loss and metabolic syndrome.
11 citations
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January 2016 in “The Journal of Sexual Medicine” Young women with nonclassic congenital adrenal hyperplasia may experience worse sexual function and mild depression compared to healthy women.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
December 2020 in “Skin appendage disorders” Finasteride may effectively treat hair loss in Klinefelter Syndrome patients.
27 citations
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June 2013 in “Genes & development” Cav1.2 affects hair growth and could be a target for hair loss treatments.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
5 citations
,
December 2004 in “Dermatology” Two women with very high androgen levels had only slight skin issues, one due to a non-classical adrenal disorder and the other due to an adrenal tumor.
2 citations
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March 2003 in “Endocrine Practice” The woman's symptoms and tests suggest her adrenal glands are producing too many male hormones.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
26 citations
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October 1999 in “Archives of Dermatology” Curly hair in certain scalp areas can be an early sign of hair loss.
2 citations
,
March 2018 in “BMJ Case Reports” Check hormone levels in older women to find hidden conditions like certain tumors.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
1 citations
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September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
December 2023 in “University of Southern Denmark Research Portal (University of Southern Denmark)” Digital access to medical info can help identify rare conditions.
Men with early-onset hair loss are less responsive to bromocriptine's heart and metabolism benefits.