30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
July 1996 in “Trends in Endocrinology and Metabolism” The book is a valuable reference on androgenic disorders for professionals but not suitable for laypeople or medical students.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
January 2024 in “Indian Journal of Paediatric Dermatology” A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
Benign ovarian tumors can cause excess male hormones and related conditions in postmenopausal women.
June 2025 in “Journal of Ovarian Research” Accurate diagnosis is crucial to distinguish between PCOS and rare ovarian tumors in teens with similar symptoms.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
February 2021 in “Endocrinology, diabetes & metabolism case reports” A postmenopausal woman's excessive hair growth and hair loss were due to a non-cancerous ovarian condition, treated successfully with surgery.
135 citations
,
August 1994 in “Clinical Endocrinology” Most women with hirsutism or androgenic alopecia had polycystic ovaries, especially if they had irregular periods.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
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.
11 citations
,
October 2003 in “Postgraduate Medical Journal” Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
January 2026 in “Brazilian Journal of Development” Early diagnosis and surgery can improve symptoms of ovarian hyperthecosis in postmenopausal women.
14 citations
,
June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
5 citations
,
June 2008 in “British Journal of Dermatology”
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.
1 citations
,
February 2022 in “Case reports in endocrinology” An unusual growth of Leydig cells in a woman's ovaries caused her excessive hair growth, which was treated successfully with surgery.
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.
1 citations
,
March 2005 in “Zentralblatt für Gynäkologie” A postmenopausal woman had high testosterone from her right adrenal gland, leading to recommended surgery.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
October 2023 in “Journal of the Endocrine Society” Machine learning identified three unique subtypes of androgen excess in women with PCOS, each with different metabolic risks.