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

[摘要] 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 resultfrom an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic materialloss. We herein describe a case of RC11 with clinical features of 11q-syndrome and endocrine abnormalities that have not yetbeen 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 patientpresented with clinical features that may be related to Jacobsen syndrome, which is caused by partial deletion of the longarm of chromosome 11. Regarding endocrine abnormalities, our patient presented with precocious puberty followed bysevere hirsutism, androgenic alopecia, clitoromegaly, and amenorrhea, which were associated with overweight, type 2diabetes mellitus (T2DM), and hyperinsulinemia; therefore, this case meets the diagnostic criteria for polycystic ovarysyndrome. Endocrine abnormalities are rare in patients with RC11, and the association of RC11 with precocious puberty,severe clinical hyperandrogenism, insulin resistance, and T2DM has not been reported previously. We speculate that gene(s)located on chromosome 11 might be involved in the pathogenesis of these conditions. Despite the rarity of RCs, studies tocorrelate the genes located on the chromosomes with the phenotypes observed could lead to major advances in theunderstanding and treatment of more prevalent diseases.

[学科分类] 血液学

[关键词] Adult;Female;White;Brazil;Ovaries;Diabetes;Gynaecological endocrinology;Insulin;Dihydrotestosterone;PCOS;Hyperandrogenism;Insulin resistance;Hirsutism;Puberty (early/precocious);Psychomotor retardation;Alopecia;Clitoromegaly;Slow growth;Diabetes mellitus type 2;Short stature;Thrombocytopenia;Amenorrhoea;Cardiac malformations;Scoliosis;Anaemia;Craniofacial abnormalities;Weight gain;Heart murmur;Speech delay;Chromosomal analysis;Glucose (blood;fasting);Insulin;Dexamethasone suppression;Haemoglobin A1c;HOMA;Metformin;Cyproterone acetate;Ethinylestradiol;Finasteride;5-alpha-reductase inhibitors;Spironolactone;17α-estradiol;Unique/unexpected symptoms or presentations of a disease;November;2015