SFE2001 Poster Presentations Clinical case reports (14 abstracts)
MASSIVE CHILDHOOD OBESITY IN A PATIENT WITH KLYNEFELTER KARYOTYPE AND PRADDER-WILLY PHENOTYPE
PA Mendes 1 , LM Monteiro 1 , MH Cardoso 1 , CG Silva 2 , MJ Santos 3 , C Cunha 3 , T Monteiro 2 & MH Ramos 1
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.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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