Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.
Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Maternal uniparental disomy of chromosome 15 was determined by MLPA. Chromosomal analysis showed her Karotype was mosaic 46,XX /45,X . Euglycaemic-hyperinsulinaemic clamp test revealed that M-value was 1.76 mg/Kg per min. Her fasting leptin level was 3.63 ng/ml, while 2 h-post leptin level was 1.94 ng/ml. serum E2 was 28.00 pg/ml and T 0.32 ng/ml,while FSH was 5.34 IU/l and LH 0.45 IU/l. Functional MRI did not show any high activity for thalamus.
Conclusion: Patient with both Prader-Willi syndrome and mosaic Turner syndrome has typical clinical presentations of Prader-Willi syndrome, lower insulin sensitivity and normal activity of thalamus when examined by functional MRI.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology