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Table 1 Phenotypical information of entire cohort by BSCL type

From: Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction

 

BSCL type I

BSCL type II

P-value

Gender(F/M)

59/24

84/84

0.0024

Mean age (y)

19.21 ± 14.72

17.45 ± 12.75

NS

Weight at birth (g)

2997.27 ± 328.78

2999.44 ± 613.61

NS

Age at onset of diabetes mellitus (y)

17.17 ± 9.95

13.24 ± 7.99

0.05

Diabetes mellitus (yes)

43%

45%

NS

Cardiomyopathy (yes)

10%

18%

NS

Hepatopathy (yes)

24%

20%

NS

Nephropathy (yes)

2%

4%

NS

Acromegaly (yes)

28%

18%

NS

Acanthosis nigricans (yes)

25%

30%

NS

Hirsutism (yes)

4%

7%

NS

Cysts in bones (yes)

16%

3%

0.01

Intellectual disability (yes)

4%

42%

< 0.0001

Poor growth and short stature (yes)

4%

7%

NS

  1. Abbreviation: NS Not significant. The continuous variable is presented as mean ± standard deviation, and the categorical variable is presented as a percentage