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.
03 - 04 Dec 2001
Society for Endocrinology