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GlossaryMarfan syndrome

genetic disorder affecting connective tissue, often causing long limbs

Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides support, strength, and elasticity to other tissues and organs. It is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1. People with Marfan syndrome often have long limbs, fingers, and toes, and may experience cardiovascular issues, such as aortic enlargement, as well as eye problems like lens dislocation.

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research Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome

4809 citations , January 2004 in “Fertility and Sterility”

The 2003 consensus updated PCOS diagnosis criteria and highlighted increased risks of diabetes and heart disease for those affected.

research Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS)

4025 citations , December 2003 in “Human Reproduction”

The 2003 consensus updated PCOS diagnosis criteria and linked PCOS to higher risks of diabetes and heart problems, recommending lifestyle changes to lower these risks.

research The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report

1540 citations , 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.

Polycystic Ovary Syndrome: Comprehensive Overview and Diagnostic Criteria

research Polycystic ovary syndrome

989 citations , August 2007 in “The Lancet”

PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.

Polycystic Ovary Syndrome: A Complex Condition with Psychological, Reproductive, and Metabolic Manifestations That Impacts Health Across the Lifespan

research Polycystic ovary syndrome: a complex condition with psychological, reproductive and metabolic manifestations that impacts on health across the lifespan

926 citations , June 2010 in “BMC Medicine”

Polycystic ovary syndrome is a complex condition that affects women's mental, reproductive, and metabolic health throughout their lives.

research Polycystic Ovary Syndrome and Cardiovascular Disease: A Premature Association?

418 citations , June 2003 in “Endocrine Reviews”

While PCOS might increase the risk of heart disease, there's not strong evidence to prove it causes earlier heart problems.

research Prevalence of polycystic ovary syndrome in women in China: a large community-based study

271 citations , June 2013 in “Human Reproduction”

PCOS is common among Chinese women of reproductive age and linked to serious metabolic and reproductive issues, especially in obese women.

research A Syndrome of Acute Zinc Deficiency During Total Parenteral Alimentation in Man

246 citations , April 1976 in “Annals of Surgery”

Zinc is crucial in nutrition, and its deficiency can cause health issues like diarrhea and hair loss, which improve with zinc therapy.

Metformin: An Old Medication of New Fashion: Evolving New Molecular Mechanisms and Clinical Implications in Polycystic Ovary Syndrome

research Metformin: an old medication of new fashion: evolving new molecular mechanisms and clinical implications in polycystic ovary syndrome

200 citations , October 2009 in “European journal of endocrinology”

Metformin helps manage polycystic ovary syndrome by improving insulin resistance and ovulation, but more research is needed on its full effects.

research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome

152 citations , April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology”

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

research Cantú Syndrome Is Caused by Mutations in ABCC9

148 citations , May 2012 in “The American Journal of Human Genetics”

Cantú syndrome is caused by mutations in the ABCC9 gene.

research Increased androgen bioavailability is associated with non-alcoholic fatty liver disease in women with polycystic ovary syndrome

119 citations , November 2009 in “Human Reproduction”

Women with PCOS and higher androgen levels are more likely to have fatty liver disease.

Short-Term Combined Treatment With Liraglutide and Metformin Leads to Significant Weight Loss in Obese Women With Polycystic Ovary Syndrome and Previous Poor Response to Metformin

research Short-term combined treatment with liraglutide and metformin leads to significant weight loss in obese women with polycystic ovary syndrome and previous poor response to metformin

116 citations , December 2013 in “European journal of endocrinology”

Combining liraglutide and metformin helps obese women with PCOS who didn't lose weight on metformin alone to lose more weight.

research Phenotype and metabolic profile of South Asian women with polycystic ovary syndrome (PCOS): results of a large database from a specialist Endocrine Clinic

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.

research Acne-associated syndromes: models for better understanding of acne pathogenesis

99 citations , December 2010 in “Journal of The European Academy of Dermatology and Venereology”

The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.

research The PRIDE (Papulopustules and/or paronychia, Regulatory abnormalities of hair growth, Itching, and Dryness due to Epidermal growth factor receptor inhibitors) syndrome

90 citations , August 2006 in “British Journal of Dermatology”

PRIDE syndrome includes skin and hair issues from cancer treatment with EGFR inhibitors.

Polycystic Ovary Syndrome: Overview and Management

research Polycystic Ovary Syndrome

87 citations , July 2018 in “Nursing Clinics of North America”

PCOS is a common hormonal disorder in women, marked by symptoms like hair growth and menstrual issues, and requires personalized treatment.

research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype

87 citations , January 2017 in “PLoS Genetics”

Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.

research Polycystic Ovary Syndrome in Adolescence

85 citations , June 2008 in “Annals of the New York Academy of Sciences”

PCOS starts in adolescence with hormonal issues, leading to adult health problems, and early treatment is crucial.

research Infertility in Polycystic Ovary Syndrome: Focus on Low-Dose Gonadotropin Treatment

74 citations , January 2006 in “Endocrine journal”

Low-dose gonadotropin treatment is effective for infertility in women with PCOS, leading to high ovulation rates and comparable pregnancy rates with fewer complications.

research Cutaneous Syndromes Produced as Side Effects of Triparanol Therapy

74 citations , March 1963 in “Archives of Dermatology”

Triparanol therapy can cause hair loss and skin dryness without inflammation or damage to hair follicles or skin structures.

research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

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.

Low Sex Hormone-Binding Globulin Is Associated With Low High-Density Lipoprotein Cholesterol And Metabolic Syndrome In Women With Polycystic Ovary Syndrome

research Low sex hormone-binding globulin is associated with low high-density lipoprotein cholesterol and metabolic syndrome in women with PCOS

71 citations , June 2006 in “Human Reproduction”

Women with PCOS who have low SHBG are more likely to have low good cholesterol and metabolic syndrome.

The SAHA Syndrome: Overview and Classification

research The SAHA Syndrome

70 citations , January 2000 in “Hormone Research in Paediatrics”

SAHA syndrome is a condition in women involving skin and hair issues, often related to hormonal imbalances, and is treated based on the underlying cause.

Polycystic Ovary Syndrome and Its Impact on Health

research Polycystic ovary syndrome and impact on health

69 citations , November 2010 in “Middle East Fertility Society Journal”

PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.

research Association of androgenetic alopecia with metabolic syndrome in men: a community-based survey

69 citations , April 2010 in “British Journal of Dermatology”

Balding men, especially young ones, may have higher risk of heart issues and diabetes; check cholesterol levels.

research Relationship of the metabolic syndrome and obesity to polycystic ovary syndrome: A controlled, population-based study

61 citations , February 2001 in “American Journal of Obstetrics and Gynecology”

Metabolic syndrome and PCOS are related but separate conditions, with metabolic syndrome increasing the risk of heart disease and diabetes.