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Table 3 Summary of the Growth Hormone Treatment in 8 Chinese FHS patients

From: Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

 

Patient 3

Patient 6

Patient 7

Patient 8

Patient 9

Patient 10

Patient 11

Patient 12

Gender

Male

Female

Male

Female

Male

Male

Female

Female

SRCAP Mutation

c.7330C > T

/p.Arg2444Ter

c.7330C > T

/p.Arg2444Ter

c.7245_7246delAT/p.Ser2416ArgfsTer26

c.7330C > T

/p.Arg2444Ter

c.7330C > T

/p.Arg2444Ter

c.7303C > T

/p.Arg2435Ter

c.7303C > T

/p.Arg2435Ter

c.7466C > G

/p.Ser2489Ter

GHD

Yes

No

ND

No

No

No

No

No

Initial age of treatment

5Y2M

2Y

4Y10M

5Y

6Y6M

5Y2M

1Y5M

2Y3 M

Height at the initiation of treatment (SDS)

92.5 cm (−4.52)

74.7 cm (−3.62)

92.3 cm (−4.12)

93.8 cm (−3.84)

95 cm (−5.30)

92.7 cm(−4.47)

68.5 cm (−4.17)

75.0 cm (− 4.17)

HV before treatment (cm/year)

4.5

NA

NA

~ 3.1

~ 3

4.5

NA

NA

Dosage & Usage

0.15 IU/kg.p.d (short-acting)

1.2 IU/kg.p.d (short-acting)

1.18 ~ 1.4 IU/kg.p.w (long-acting)

0.17 mg/kg.p.w (long-acting)

0.2 IU/kg.p.d (short-acting)

0.14~0.17 IU/kg.p.d (short-acting)

0.13~0.2 IU/kg.p.d (short-acting)

0.125 IU/kg.p.d (short-acting)

Duration of treatment

1Y

1 M

4Y + 2 M

1Y + 7 M

4Y + 3 M

4Y + 3 M

2Y + 2 M

3 M

Height at one year treatment(SDS)

98 cm (−4.40)

na

99.5 cm (−3.76)

100.5 cm (− 3.50)

101.9 cm (− 4.78)

98 cm (− 4.40)

87 cm (−2.77)a

na

Height at last examination(SDS)

98 cm (− 4.40)

na

120.5 cm (−2.56)

103.4 cm (− 3.49)

119 cm (− 3.86)

118 cm (− 3.31)

88.6 cm (− 2.96)

77.9 cm (− 3.81)

First-year delta height SDS

0.12

na

0.36

0.34

0.52

0.07

> 0.7

na

Total height SDS

0.12

na

1.56

0.35

1.44

1.16

1.21

na

Annualized height SDS

0.12

na

0.37

0.22

0.34

0.27

0.56

na

HV during the first year of treatment (cm/year)

5.5

na

6.64

6.7

6.9

5.3

10.1

na

HV increase during the first-year (cm/year)

1

na

na

~ 3.6

~ 3.9

0.8

na

na

GH Treatment response

Poor

ND

Good

Modest

Good

Poor

Good

ND

  1. ND undetermined, na not applicable, NA data not available, a: data collected at one year and ten months after GH treatment