October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
March 2023 in “Scholars international journal of obstetrics and gynecology” PCOS is a complex condition that affects women's hormonal balance and metabolism, requiring lifestyle changes and medical management.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
20 citations
,
October 2001 in “British Journal of Ophthalmology” A patient with congenital erythropoietic porphyria showed eye issues due to porphyrin buildup.
18 citations
,
January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
38 citations
,
May 2006 in “Archives of Gynecology and Obstetrics” Women with only irregular periods or excess hair have a better hormone profile than those with full PCOS, but both groups are similar, indicating a need for better PCOS diagnosis methods.
April 2020 in “Journal of the Endocrine Society” Taking thyroid medication reduced the patient's pituitary gland swelling and improved her symptoms.
97 citations
,
January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
9 citations
,
July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
286 citations
,
January 2009 in “Human Reproduction Update” Women with the NIH type of PCOS have more obesity and higher risk of diabetes and heart disease than those with other types of PCOS.
1 citations
,
January 2022 in “Pakistan BioMedical Journal” Many young women are unaware of PCOS symptoms, and poor diets worsen their menstrual cycles.
1540 citations
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October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
1 citations
,
January 2014 in “Health Renaissance” Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
1 citations
,
April 2010 in “DOAJ (DOAJ: Directory of Open Access Journals)” PCOS significantly affects women's quality of life, causing anxiety and social issues, and requires comprehensive care.
September 2013 in “Serbian Journal of Dermatology and Venerology” Stopping oral contraceptives improved symptoms of porphyria cutanea tarda in a young woman.
111 citations
,
November 2010 in “Human Reproduction” South Asian women with PCOS are more likely to have metabolic issues and central obesity, and simple measures like waist size and blood pressure can help identify these risks early.
January 2011 in “Journal of the American Academy of Dermatology” Dr. Conroy's book on Morgellon's disease lacks credible evidence and scientific validity.
September 2023 in “Reproductive health of woman” PCOS is common, affects fertility, and requires personalized treatment to manage symptoms and health risks.
13 citations
,
June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
May 2023 in “International Journal of Home Science” PCOS is linked to metabolic issues and infertility, needing more research.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
1 citations
,
July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
October 2024 in “Journal of the Endocrine Society” Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
5 citations
,
November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
25 citations
,
January 1983 in “Archives of dermatology” The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.
November 2023 in “Gastroenterology” A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.