13 citations
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December 2010 in “Nature Reviews Endocrinology” A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
9 citations
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December 1987 in “Archives of Dermatology” Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
February 2025 in “La Pediatria Medica e Chirurgica” The boy's Cushing's Disease was treated successfully, but he developed growth hormone deficiency.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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November 2018 in “Princeton University Press eBooks” Vitamin C deficiency harms both the body and brain, affecting behavior.
1 citations
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April 2018 in “Our Dermatology Online” Trichoscopy can detect early signs of steroid overuse on the scalp, suggesting a need for non-steroidal treatments.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
January 2016 in “日本性機能学会雑誌”
December 2025 in “Pakistan Journal of Health Sciences” Estrogen deficiency in postmenopausal women can cause skin and hair issues, but local estrogen therapies help improve vaginal health.
August 2025 in “DS Reviews of Research in Life Sciences” Women with PCOS have higher levels of DHEA, IL-6, and TNF-α.
June 2012 in “Springer eBooks” Skin changes can indicate starvation and nutritional deficiencies in anorexia nervosa.
34 citations
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January 2004 in “PubMed” DHT deficiency in rats reduces sperm content and affects testis structure over time.
January 2014 in “edoc (University of Basel)” Anabolic steroids and inflammation can disrupt androgen metabolism, potentially causing health issues.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
5 citations
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January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
October 2024 in “Journal of the Endocrine Society” Surgical removal of a rare ovarian tumor improved symptoms and hormone levels in a postmenopausal woman.
26 citations
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January 1982 in “Hormone Research” Normal androgen levels need ACTH, and different mechanisms control adrenarche and gonadarche.
June 1987 in “Pediatric Neurology Briefs” Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
3 citations
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May 2022 in “Clinical endocrinology” Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
October 2023 in “Journal of the Endocrine Society” Machine learning identified three unique subtypes of androgen excess in women with PCOS, each with different metabolic risks.
11 citations
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October 2002 in “The Journal of Clinical Endocrinology & Metabolism” Enzyme activities do not cause early pubic hair in these girls.
June 2025 in “V F Snegirev Archives of Obstetrics and Gynecology” A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
19 citations
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September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.