Endocrine Abnormalities in Ring Chromosome 11: A Case Report and Review of the Literature

    November 2015 in “ Endocrinology, Diabetes & Metabolism Case Reports ”
    Renata Lange, Caoê Von Linsingen, Fernanda Mata, Aline Barbosa Moraes, Mariana Arruda, Leonardo Vieira Neto
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    TLDR Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
    The 2015 case report and literature review discussed a rare instance of a 20-year-old female patient with Ring Chromosome 11 (RC11), a condition that had only been reported in 19 cases at the time. The patient exhibited symptoms of 11q-syndrome and endocrine abnormalities such as precocious puberty, severe hirsutism, androgenic alopecia, and type 2 diabetes mellitus (T2DM), which were not previously associated with RC11. The study suggested that genes on chromosome 11 might be involved in the pathogenesis of these conditions. The authors recommended karyotype studies for patients with similar symptoms for early diagnosis and management.
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