Endocrine Abnormalities in Ring Chromosome 11: A Case Report and Review of the Literature
November 2015
in “
Endocrinology, Diabetes & Metabolism Case Reports
”
Studysummary This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
