January 2023 in “Integrative Journal of Medical Sciences” This report presents a case of a child with hypothyroidism and poorly controlled type 1 diabetes developing both Mauriac syndrome and Van Wyk–Grumbach syndrome, two rare complications.
36 citations
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October 2016 in “Bone” This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
2 citations
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September 2022 in “Annals of Medicine and Surgery” The researchers reported a rare case of invasive cutaneous squamous cell carcinoma of the scalp extending into bone and dura mater, successfully treated with surgery and skin flap repair, without metastasis observed at three months.
218 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that removing PPARγ specifically from mouse adipose tissue led to severe fat loss, insulin resistance, diabetes, and associated metabolic abnormalities.