Endocrine Abstracts (2001) 2 P16

MASSIVE CHILDHOOD OBESITY IN A PATIENT WITH KLYNEFELTER KARYOTYPE AND PRADDER-WILLY PHENOTYPE

PA Mendes1, LM Monteiro1, MH Cardoso1, CG Silva2, MJ Santos3, C Cunha3, T Monteiro2 & MH Ramos1


1ENDOCRINOLOGY DEPARTMENT, HOSPITAL GERAL DE SANTO ANTÓNIO, PORTO, PORTUGAL; 2PEDIATRICS DEPARTMENT, HOSPITAL GERAL DE SANTO ANTÓNIO, PORTO, PORTUGAL; 3CLINICAL PATHOLOGY DEPARTMENT, HOSPITAL GERAL DE SANTO ANTÓNIO, PORTO, PORTUGAL.


We report an 18-year-old boy referred to our outpatient clinic at 8 years and 11 months of age with a history of early-onset childhood hiperphagia, infantile central hipotonia and lethargy, mild mental retardation and emotional instability. His height was 125 cm, height SDS = -1 (target height = 169,5 cm, SDS = -0,78) and he weighted 40 Kg (BMI = 25,6;WFH =164%). He had small hands and feet, fat face with prominent forehead, bitemporal narrowing, triangular upper lip, micrognathia, almond-shaped palpebral fissures, micropenis, bilateral cryptorchidism and small flat scrotum. There was no family history of obesity. Although his phenotype resembled a Pradder-Willy syndrome, his karyotype was 47-XXY. Abnormalities of the long arm of chromosome 15 were excluded. At 13 years of age his height was 145cm and height SDS = -1, genital stage G1 and pubic hair stage P2. Nine months later his height was 146 cm and height SDS= -1,55. Peak GH response to pharmacological stimulation with clonidine and insulinic hypoglycaemia, after priming with testosterone, was 1,3 ng/ml in both tests. Pituitary MNR was normal. As free GH treatment was not granted although requested he was started on testosterone. At 18 years of age his height is156 cm, SDS= -2,75 (height SDS corrected for target height = -2,0) and his weight is 111 Kg (BMI = 45,67;WFH =248%).

In spite of nutritional and behavioural therapy, he continues to have binge eating and severe obesity with co-morbidities (Sleep apnoea/hypopnoea syndrome and psychosocial disorders). We stress the unusual clinical presentation of this patient with 47-XXY karyotype but a Prader-Willy phenotype with massive obesity and short stature. GH deficiency will explain his short stature and probably contributes for his massive visceral obesity.

Article tools

My recent searches

No recent searches.