47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

摘要: Objective To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult. Study design This is cross-sectional descriptive study male subjects XYY who were evaluated at 1 2 specialized academic sites. Subjects underwent history, physical examination, laboratory testing, cognitive/behavioral evaluation. Results In 90 (mean age 9.6 ± 5.3 years [range 0.5-36.5]), mean height SD was above average (1.0 1.2 SD). Macrocephaly (head circumference >2 SD) noted 28/84 (33%), hypotonia 57/90 (63%), clinodactyly 47/90 (52%), hypertelorism 53/90 (59%). There testicular enlargement for (>2 41/82 (50%), but no increase genital anomalies. No phenotypic differences seen boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, follicle stimulating hormone levels the normal range most boys. an increased incidence asthma, seizures, tremor, autistic spectrum disorder (ASD) compared general population rates. Prenatally scored significantly better on cognitive testing less likely be ASD ( P Conclusions The phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, tremor. Physical similar Prenatal diagnosis associated higher function likelihood diagnosis.