July 2026 in “Frontiers in Endocrinology” A young girl had a hormone-secreting tumor removed, leading to decreased hormone levels, but ongoing monitoring is needed.
October 2022 in “Journal of Pediatric and Adolescent Gynecology” A special blood test helped find the overactive ovary in a teen with PCOS, and removing that ovary improved her condition.
4 citations
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April 2018 in “The journal of pediatrics/The Journal of pediatrics” A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
1 citations
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January 2014 SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
February 2013 in “Pediatrics in Review” The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Abnormal contraction of connective tissue in hair follicles causes hair loss by killing off important cells, and treating this could improve hair growth.
9 citations
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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.
December 2023 in “International Journal of Research in Dermatology” Halo Scalp Ring is a rare newborn hair loss that can be missed, and early diagnosis can avoid extra tests and worry for parents.
October 2024 in “Journal of the Endocrine Society” Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
8 citations
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May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
24 citations
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May 1985 in “The Journal of Clinical Endocrinology & Metabolism” A circulating inhibitor caused insulin resistance, but clomiphene improved symptoms.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
October 1995 in “Pediatric Research”
June 2024 in “Trends in Urology & Men s Health” Post-finasteride syndrome is rare but serious and should be taken seriously.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
May 2016 in “Endocrine Abstracts” The removal of the adrenal tumor improved the patient's symptoms and reduced androgen levels, indicating successful surgery.
65 citations
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October 2008 in “Journal of Neuroendocrinology”
January 2023 in “Skin appendage disorders” A woman's hair grew back after treatment for a rare hair loss caused by proton therapy.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
8 citations
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January 2014 in “Indian Dermatology Online Journal” Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
January 2024 in “Frontiers in endocrinology” Treating early puberty with hormone therapy may increase the risk of polycystic ovary syndrome in adults.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” Surgical removal of an adrenal tumor resolved hormonal issues in a young woman.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
December 2021 in “Aegean journal of obstetrics and gynecology” A woman's male-like physical changes were caused by two rare ovarian conditions.