6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
April 2020 in “Journal of the Endocrine Society” Type 3 acromegaly patients have more health issues and higher death risk.
6 citations
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January 2011 in “PubMed” The document concludes that most patients with endocrine disorders experience diffuse, non-scarring hair loss, with scarring hair loss being rare.
May 2021 in “Journal of the Endocrine Society” A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
October 2022 in “The Korean Journal of Physiology and Pharmacology” Targeting the PGD2-DP2 pathway may help treat hair loss.
31 citations
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December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
May 2026 in “Theranostics” Targeting DKK3–CKAP4 can help reverse hair loss in androgenetic alopecia.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.