Endocrine abnormalities in ring chromosome 11: a case report and review of the literature.

Endocrine abnormalities in ring chromosome 11: a case report and review of the literature. Endocrinol Diabetes Metab Case Rep. 2015;2015:150085 Authors: Lange R, Von Linsingen C, Mata F, Moraes AB, Arruda M, Vieira Neto L Abstract Ring chromosomes (RCs) are uncommon cytogenetic findings, and RC11 has only been described in 19 cases in the literature. Endocrine abnormalities associated with RC11 were reported for two of these cases. The clinical features of RC11 can result from an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic material loss. We herein describe a case of RC11 with clinical features of 11q-syndrome and endocrine abnormalities that have not yet been reported. A 20-year-old female patient had facial dysmorphism, short stature, psychomotor developmental delays, a ventricular septal defect, and thrombocytopenia. Karyotyping demonstrated RC11 (46,XX,r(11)(p15q25)). This patient presented with clinical features that may be related to Jacobsen syndrome, which is caused by partial deletion of the long arm of chromosome 11. Regarding endocrine abnormalities, our patient presented with precocious puberty followed by severe hirsutism, androgenic alopecia, clitoromegaly, and amenorrhea, which were associated with overweight, type 2 diabetes mellitus (T2DM), and hyperinsulinemia; therefore, this case meets the diagnostic criteria for polycystic ovary syndrome. Endocri...
Source: Diabetes Metab - Category: Endocrinology Authors: Tags: Endocrinol Diabetes Metab Case Rep Source Type: research