Table 1

Clinical characteristics of women with low birthweight, precocious pubarche, short stature 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

SHBG, sex hormone-binding globulin; DHEAS, dehydroepiandrosterone-sulfate; free androgen index, testosterone (nmol/L) x SHBG (nmol(L)/100; n/a, not available.

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.

# Reference range for % methylation, stated as 95% confidence interval derived from 95 control patients.

↑ and ↓ are used in the table to indicate clearly increased and decreased laboratory values.

Murphy et al.

Murphy et al. BMC Medical Genetics 2012 13:42   doi:10.1186/1471-2350-13-42

Open Data