1 citations
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January 2014 in “The Journal of Dermatology” A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
March 2024 in “Journal of Animal Reproduciton and Biotechnology” A rare fetal malformation caused difficult birth in a goat, requiring surgery.
9 citations
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September 2022 in “Journal of Clinical Investigation” Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
45 citations
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February 2001 in “Joint bone spine” Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
30 citations
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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.
21 citations
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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.
3 citations
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May 2019 in “BMJ case reports” A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
53 citations
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
15 citations
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May 2005 in “Seminars in Plastic Surgery” The document concludes that hair follicular unit transplantation is an effective method for eyebrow and eyelash reconstruction, with patients happy despite needing regular trimming.
78 citations
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November 2008 in “Fertility and Sterility” Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
38 citations
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October 2006 in “Fertility and Sterility” The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
139 citations
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February 2010 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Transplant success has improved with better immunosuppressive drugs and donor matching.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
50 citations
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November 2010 in “Plastic and Reconstructive Surgery” Botox increased hair count in men with baldness and might work by improving scalp blood flow.
29 citations
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September 1989 in “Journal of The American Academy of Dermatology” Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.
16 citations
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July 2019 in “Journal of Cellular Biochemistry” Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
4 citations
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September 2014 in “Elsevier eBooks” Use some skin medications with caution during pregnancy; avoid strong steroids, certain eczema treatments, and systemic retinoids, but many topical treatments and nasal sprays are safe.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
2 citations
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January 2017 in “Journal of Pigmentary Disorders” Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
January 2025 in “Directory of Open access Books (OAPEN Foundation)” PCOS affects women's hormones and metabolism, but can be managed with lifestyle changes and treatments.
April 2024 in “International Journal of Advanced Multidisciplinary Research and Studies” Early investigation and a team approach are crucial for managing primary amenorrhea effectively.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
January 2024 in “Women's health science journal” Hormonal imbalances are a key cause of missed menstrual periods in women.