Metacarpophalangeal pattern profile analysis as a tool for early diagnosis of Turner syndrome.
OBJECTIVE
To analyze the metacarpophalangeal pattern profile (MCPP) in a cohort of individuals with Turner syndrome (TS), and to assess its value as a tool for early diagnosis of TS.


METHODS
Medical records and radiological material were collected of 71 patients with TS aged between 3 and 21 years. Forty-six patients received growth hormone therapy (33-66 microg kg(-1) day(-1)) and 14 of these were also treated with the anabolic steroid oxandrolone (1.25-3.75 mg day(-1)). A total of 233 frontal hand radiographs were studied and pattern profiles were calculated. Profiles of the TS patients were compared with those of 70 normal females. Mean pattern profiles were calculated for different age groups and extrapolated profiles for newborns and infants were developed.


RESULTS
Our results confirm that patients with TS have a distinct MCPP which differs significantly from that of normal individuals. A bone-shortening gradient with increasing shortening from distal phalanges to metacarpals was demonstrated. We also showed that the MCPP in TS is a remarkably constant feature from 3 to 18 years. Pattern profiles did not differ significantly between the patients with 45,X and non-45,X karyotype. MCPP was not affected by treatment with growth hormone of growth hormone plus oxandrolone. Discriminant analysis yielded correct classification in 88%, of analyzed cases.


CONCLUSIONS
TS individuals have a distinct hand pattern profile that is not age-related. MCPP analysis can be applied at any age and may facilitate early diagnosis of TS. Our study showed that MCPP analysis is a specific and sensitive method that should be considered as a routinely used tool for early diagnosis of TS in girls with unexplained short stature.
Laurencikas
E
E
Department of Woman and Child Health, Pediatric Radiology Unit, Karolinska Institute, Stockholm, Sweden. evaldas.laurencikas@karolinska.se
Söderman
E
E
Davenport
M
M
Jorulf
H
H
Sävendahl
L
L
D000293:Adolescent; D000328:Adult; D045930:Anabolic Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D016002:Discriminant Analysis; D042241:Early Diagnosis; D005260:Female; D005500:Follow-Up Studies; D013006:Growth Hormone / Q000627:therapeutic use; D006801:Humans; D008662:Metacarpophalangeal Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D010074:Oxandrolone / Q000627:therapeutic use; D011237:Predictive Value of Tests; D011859:Radiography; D012016:Reference Values; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D014424:Turner Syndrome / Q000175:diagnosis* / Q000188:drug therapy
D045930:Anabolic Agents; D010074:Oxandrolone; D013006:Growth Hormone