81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
3 citations
,
January 2017 in “Yonsei Medical Journal” Blocking 11β-HSD1 can lessen the harmful effects of glucocorticoids on hair growth cells.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
The document's conclusion cannot be provided because the document is not available or cannot be read.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
January 1999 in “Chinses Journal of Hand Surgery” Human hair keratin artificial tendon is a safe and effective tendon substitute.
21 citations
,
June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
17 citations
,
April 1997 in “Archives of dermatology” The document describes a treatment for excessive hair growth in a teenage girl using medication and birth control, but does not report the results.
March 2024 in “SVU- International Journal of Veterinary Sciences” Fecal microbiota transplantation effectively reduces symptoms of Feline Hyperesthesia Syndrome in cats.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
2 citations
,
March 2003 in “Endocrine Practice” The woman's symptoms and tests suggest her adrenal glands are producing too many male hormones.
January 1977 in “Case Reports in Medicine” Steroid cell tumors in the ovary are rare, can produce testosterone causing symptoms, and are mainly treated with surgery.
30 citations
,
April 2021 in “The Journal of Sexual Medicine” Testosterone therapy can help postmenopausal women with low sexual desire if monitored carefully.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
January 2015 in “International Journal of Research in Medical Sciences” A patient with HAIR-AN syndrome, PCOS, and Hashimoto's thyroiditis improved with early diagnosis and treatment to prevent serious health problems.
85 citations
,
August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
Hair regrowth improved, but quality of life did not.
49 citations
,
September 2012 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The document concludes with guidance for doctors on diagnosing and treating hirsutism effectively and safely.
October 2024 in “Journal of the Endocrine Society” Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.
Adalimumab significantly improved Hidradenitis Suppurativa and quality of life in two patients.
47 citations
,
November 2012 in “Expert Opinion on Therapeutic Patents” The document concludes that research on sulfatase inhibitors should continue due to their potential in treating various diseases, despite some clinical trial failures.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting impaired Nrf2 signaling might help treat hidradenitis suppurativa early on.
8 citations
,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
4 citations
,
November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
10 citations
,
January 2019 in “Archives of Endocrinology and Metabolism” Testosterone therapy may slightly increase sexual desire in women with HSDD but lacks broad recommendation due to safety concerns and limited approval.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.