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.
78 citations
,
April 1994 in “Archives of dermatology” The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
77 citations
,
March 2001 in “Clinics in Dermatology” Androgenetic alopecia involves genetics, hormones, and can be treated with medications or surgery.
63 citations
,
March 2011 in “Clinical Endocrinology” Evaluate postmenopausal women with high androgen levels using medical history, physical exams, lab tests, and imaging to manage health risks.
57 citations
,
March 2011 in “Pediatric Dermatology” Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
53 citations
,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
50 citations
,
November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
47 citations
,
September 2016 in “Reviews in endocrine and metabolic disorders” The skin's ability to produce hormones is linked to various skin conditions, and better understanding this process could lead to new treatments.
44 citations
,
November 1998 in “Australasian Journal of Dermatology” Accurate diagnosis is key for treating different kinds of hair loss, and immune response variations may affect the condition and treatment results.
42 citations
,
February 1985 in “Journal of the American Academy of Dermatology” Excessive hair growth can be assessed by history, exam, and blood tests, and treated with medication like dexamethasone, birth control pills, and spironolactone.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
37 citations
,
January 2004 in “Hormone Research in Paediatrics” About 3% of high school girls aged 14-18 in Isfahan, Iran, have polycystic ovary syndrome.
37 citations
,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
34 citations
,
July 2018 in “American Journal of Physiology-heart and Circulatory Physiology” Minoxidil improves blood flow and vessel flexibility, potentially helping with vascular stiffness.
31 citations
,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
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.
30 citations
,
July 2004 in “Fertility and Sterility” Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.
28 citations
,
February 2019 in “Genes” Proper control of β-catenin activity is crucial for development and preventing diseases like cancer.
27 citations
,
October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
25 citations
,
June 2012 in “Endocrine” PCOS may start before birth, involves metabolic issues, and can be treated with drugs like metformin and lifestyle changes.
25 citations
,
January 2009 in “Oral and Maxillofacial Surgery Clinics of North America” Successful hair transplant surgery depends on careful patient selection, proper surgical plan and technique, and attentive aftercare.
25 citations
,
December 2001 in “Expert Opinion on Pharmacotherapy” Potassium channel openers show promise for treating heart disease and other conditions, but more research is needed to fully understand their effects and safety.
23 citations
,
December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
22 citations
,
January 2014 in “Indian Journal of Endocrinology and Metabolism” Family members of North Indian women with PCOS have a high rate of metabolic syndrome.
21 citations
,
February 2016 in “Reproductive Biomedicine Online” The conclusion suggests that PCOS may persist due to genetic traits that, while harmful for female fertility, could have provided survival and reproductive benefits to males.
21 citations
,
September 2004 in “Fertility and Sterility” Amenorrhea, or the absence of periods, should be evaluated by age 15 or within five years of early breast development, and is most commonly caused by conditions like polycystic ovary syndrome and hypothalamic amenorrhea.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
20 citations
,
January 2012 in “International Journal of Trichology” Most cases of excessive hair growth in women are caused by polycystic ovarian syndrome and are linked to higher free testosterone levels.