Skip to main content

Table 1 Clinical characteristics of women with low birthweight, precocious pubarche, short stature and insulin resistance

From: IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance

Subject

1

2

3

4

Age (yr)

20

15

20

13

Gestational age (wk)

39

38

40

37

Birthweight SDS (Kg)

−3.9 (1.8)

−3.1 (1.8)

−3.0 (2.2)

−3.2 (1.2)

Birth length SDS (cm)

−3.9 (42)

−3.1 (42)

−3.0 (45)

−3.2 (39)

Head circumference SDS (cm)

−1.8 (31.5)

−1.8 (30.5)

−2.5 (31.0)

n/a

Mid-parental target height Z-score (cm)

−0.4 (161)

−0.8 (159)

−1.5 (155)

0.2 (164)

Adult height Z-score (cm)

−3.6 (143)

−2.1 (153)

−2.3 (151)

−2.3 (151)

Adult weight (Kg)

39.3

56.0

68.0

41.7

Body mass index SDS (Kg/m2)

−0.7 (19.2)

0.8 (23.9)

2.6 (29.8)

−1.0 (18.3)

Age at pubarche (yr)

7.0

7.8

6.0

7.5

Age at menarche (yr)

11.0

10.0

11.0

10.0

Polycystic ovary syndrome (age, yr)

15.0

No

15.0

No

Body asymmetry

No

No

No

No

Triangular shaped face

No

No

No

No

Irregular crowded teeth

No

No

No

No

Low set ears

No

No

No

No

Retrognathia

Yes

No

No

No

Prominent forehead

No

No

Yes

No

Down-turned corners of the mouth

Yes

No

Yes

No

Thin lips

No

No

No

No

Squeaky voice

Yes

No

No

No

Genital abnormalities

No

No

No

No

Clinodactyly or brachydactyly

No

No

No

No

Glucose (mg/dl)

102 ↑

88

81

83

Insulin (mU/L)

20.4 ↑

17.9 ↑

16.6 ↑

17.4 ↑

Insulin sensitivity (% HOMA)

65 ↓

58 ↓

54 ↓

57 ↓

Testosterone (ng/dL)

65 ↑

64 ↑

84 ↑

60 ↑

SHBG (μg/dL)

29 ↑

31 ↑

15 ↑

27 ↑

Free Androgen Index

7.8 ↑

7.2 ↑

19.4 ↑

7.7 ↑

Androstenedione (ng/dL)

337 ↑

190

567 ↑

221 ↑

DHEAS (μg/dL)

329 ↑

86

311 ↑

89

Karyotype

Normal

Normal

Normal

Normal

IGF2 gene mutation

No

No

No

No

H19 DMR % (ref range 33.0 – 49.8)#

2.2 ↓

42.3

36.9

33.7

IGF2 DMR0% (ref range 36.5 – 54.9)#

27.6 ↓

43.9

46.4

47.7

  1. SHBG, sex hormone-binding globulin; DHEAS, dehydroepiandrosterone-sulfate; free androgen index, testosterone (nmol/L) x SHBG (nmol(L)/100; n/a, not available.
  2. Reference data (mean ± SEM) from age-matched healthy volunteers[20]: n = 24; age, 15.3 ± 0.2 yr; glucose: 79 ± 1.8 mg/dL; insulin: 11.3 ± 1.0 mU/L; insulin sensitivity (% HOMA): 104 ± 5; testosterone: 31 ± 3 ng/dL; SHBG: 1.9 ± 0.1 μg/dL; free androgen index: <5; androstenedione: 156 ± 14 ng/dL; DHEAS: 125 ± 12 μg/dL.
  3. # Reference range for % methylation, stated as 95% confidence interval derived from 95 control patients.
  4. ↑ and ↓ are used in the table to indicate clearly increased and decreased laboratory values.