47,XYY syndrome: clinical phenotype and timing of ascertainment

J Pediatr. 2013 Oct;163(4):1085-94. doi: 10.1016/j.jpeds.2013.05.037. Epub 2013 Jun 27.


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 a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing, and cognitive/behavioral evaluation.

Results: In 90 males with XYY (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) was noted in 28/84 (33%), hypotonia in 57/90 (63%), clinodactyly in 47/90 (52%), and hypertelorism in 53/90 (59%). There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, and follicle stimulating hormone levels were in the normal range in most boys. There was an increased incidence of asthma, seizures, tremor, and autistic spectrum disorder (ASD) compared with the general population rates. Prenatally diagnosed boys scored significantly better on cognitive testing and were less likely to be diagnosed with ASD (P < .01).

Conclusions: The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.

Keywords: 47,XYY; ADHD; ADI-R; AMH; ASD; Anti-mullerian hormone; Attention deficit hyperactivity disorder; Autism Diagnostic Interview–Revised; Autistism spectrum disorder; BMI; Body mass index; CBCL; CDI-2; Child Behavior Checklist; Children's Depression Inventory–Second Edition; FSH; FSIQ; Follicle stimulating hormone; Full scale IQ; HC; Head circumference; LH; Luteinzing hormone; SCQ; SES; SRS; Social Communicative Questionnaire; Social Responsiveness Scale; Socioeconomic status; WC; Waist circumference; XYY.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child Behavior
  • Child, Preschool
  • Cognition Disorders / diagnosis
  • Cohort Studies
  • Cross-Sectional Studies
  • Hand Deformities / diagnosis
  • Humans
  • Infant
  • Male
  • Megalencephaly / diagnosis
  • Muscle Hypotonia / diagnosis
  • Neuropsychological Tests
  • Phenotype
  • Sex Chromosome Disorders / diagnosis*
  • Sex Chromosome Disorders / genetics*
  • Social Class
  • Surveys and Questionnaires
  • XYY Karyotype / diagnosis*
  • XYY Karyotype / genetics*
  • Young Adult

Supplementary concepts

  • 47, XYY syndrome