30 citations
,
July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
1 citations
,
January 2018 in “Turkiye Klinikleri Journal of Dermatology” People with early onset androgenetic alopecia may have a higher chance of metabolic syndrome, especially dyslipidemia.
January 2025 in “International Journal of Dermatology” Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
October 2025 in “Indian Journal of Physiology and Pharmacology” Early diagnosis and treatment of endocrine disorders like HAIR-AN syndrome can improve outcomes in adolescents.
November 2022 in “Journal of the Endocrine Society” A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.
13 citations
,
November 2015 in “Blood Pressure” Hair loss may indicate higher heart risk and metabolic issues.
April 2019 in “Journal of the Endocrine Society” Androgens and estrogens are crucial for insulin secretion in males.
1 citations
,
January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
1 citations
,
December 1998 in “PubMed” Surgery on a 68-year-old woman with an ovarian tumor led to reduced hirsutism and normal testosterone levels.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
October 2024 in “Journal of the Endocrine Society” Surgical removal of a rare ovarian tumor improved symptoms and hormone levels in a postmenopausal woman.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
7 citations
,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
6 citations
,
April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
4 citations
,
May 2014 in “European Journal of Dermatology” Severe hair loss links to metabolic issues in older men with psoriasis.
November 2025 in “Scientific Reports” Liver disease is linked to hair loss, especially in women and those with unhealthy lifestyles.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
2 citations
,
October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
1 citations
,
January 2012 in “International Journal of Trichology” Early hair loss in men and women may indicate a higher risk of heart disease and metabolic problems.
23 citations
,
February 2003 in “British Journal of Dermatology” A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
6 citations
,
January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.