A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
6 citations
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August 2023 in “European journal of endocrinology” The 2023 guideline advises a detailed approach for PCOS, focusing on early detection, lifestyle and medical treatments, and managing health risks.
1 citations
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June 2023 in “Reproduction” Microglia, the brain's immune cells, may contribute to Polycystic Ovary Syndrome (PCOS) by altering the female brain's structure and function, with kisspeptin neurons and GABA neurotransmitters also playing a role.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
November 2024 in “Future Science OA” A rare benign ovarian tumor was found in a pregnant woman, but both mother and baby remained healthy.
February 2023 in “Frontiers in Endocrinology” Too much male hormone in mothers can negatively affect the sexual behavior of both male and female baby mice.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
10 citations
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March 2024 in “Endocrine Reviews” Significant progress was made in understanding androgen excess disorders, but much is still unknown.
4 citations
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March 2021 in “International Journal of Environmental Research and Public Health” Women with PCOS have higher body fat and skinfold thickness, especially in the H-O-POM phenotype.
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.
February 2019 in “Obstetrics and gynaecology cases - reviews” Women with excessive hair growth tend to have shorter index and ring fingers compared to others.
29 citations
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February 2019 in “Environment international” Higher early lead exposure is linked to delayed puberty in girls.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
9 citations
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August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
317 citations
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April 2018 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
138 citations
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August 2020 in “Frontiers in Endocrinology” PCOS affects health and quality of life, with effective treatments available and a need for more research on alternative therapies.
15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
14 citations
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October 2018 in “Journal of Mind and Medical Sciences” Early screening and a mix of treatments help manage postpartum depression.
13 citations
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August 2020 in “Der Hautarzt” Excessive male hormones in women cause symptoms like unwanted hair growth, and treatment requires careful medical evaluation.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
11 citations
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November 2017 in “Hong Kong Medical Journal” Polycystic ovary syndrome increases the risk of diabetes, heart disease, and endometrial cancer, and requires early treatment to manage these risks.
9 citations
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February 2022 in “Biomolecules” Drinking a lot of alcohol increases the risk of prostate cancer and can worsen the condition.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
5 citations
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April 2024 in “ACS Chemical Neuroscience” A new method accurately measures nine neuroactive steroids in small blood samples, helping to study brain diseases.
1 citations
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February 2020 in “Cureus” Women with PCOS are more likely to have skin problems like excessive hair, acne, and hair loss.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.