Abstract Ref Number = APCP854
AN INFANT WITH XYY SYNDROME A CASE REPORT
Aldilla Dinaresti,Annang Giri Moelyo
pediatric resident sebelas maret university endocrinology subdivision department of child health
Background : XYY syndrome occurs approximately 1 in 1,000 male births, however, only a minority of about 15% are diagnosed postnatally, leaving the entire literature on 47 XYY heavily biased. The median age at diagnosis ranges from 15 until 17 years old, thus, half of all cases are diagnosed in adulthood.
Case Presentation Summary : A 1 month old baby boy was presented to pediatric outpatient clinic with genital anomaly. Physical examination obtained micropenis and hypospadia. The laboratory test revealed TSH level of 0.64 uIU/ml and FT4 level of 11.01 uIU/ml. The chromosome examination demonstrated an extra Y chromosome proving Jacob’s syndrome. This patient was planned for surgery but this procedure can only be performed at the age of 1 year and over, thus we just monitor his height, head circumference, muscle strength, cardiac abnormality, psychology, level of testosterone, puberty, and neurologic status. We planned to perform IQ test when he is five years old.
Learning Points/Discussion : Jacob’s syndrome or 47 XYY diagnosis is based on thorough history taking, clinical manifestation and chromosome analysis which detect the presence of an extra Y chromosome. Symptomatic and supportive treatments are useful. These may include speech and occupational therapies as well as assistance for learning disabilities in the school setting maybe benefit. Lastly growth and development must be monitored regularly to prevent the complications and to improve the quality of life.
Keywords: 47 XYY syndrome hypospadia Jacob’s syndrome