Table 1.
Growth data, physical examination, and laboratory findings in the cases
| Case 1 | Case 2 | |
|---|---|---|
| Sex | Female | Female |
| Growth characteristics | ||
| Birth weight (g/SDS) | 1590 (−3.6) | 2017 (−3.0) |
| Birth length (cm/SDS) | Unknown | 38.1 (−7.45) |
| Body proportions: upper/lower (cm) | 65/50 = 1.30 | 63.7/43 = 1.48 |
| Adult height (cm/SDS) | 115 (−7.35) | 106.7 (−8.63) |
| Adult weight (kg/SDS) | 35.5 (−4.38) | 38.0 (−3.45) |
| Adult head circumference (cm/SDS) | 44.8 cm (−6.8) | 45.0 cm (−6.7 sd) |
| Puberty | Absent breast development, primary amenorrhea | Absent breast development, primary amenorrhea |
| Paternal height (cm/SDS) | 165.2 (−1.62) | 165.2 (−1.62) |
| Maternal height (cm/SDS) | 149.7 (−2.10) | 149.7 (−2.10) |
| Physical characteristics | ||
| Microcephaly | Severe | Severe |
| Facies | Hypotelorism | Hypotelorism |
| Small ears | Small ears | |
| Slightly large nose | Slightly large nose | |
| Vision | Normal | Normal |
| Hearing | Normal | Normal |
| Fingers | Clinodactyly fifth fingers | Clinodactyly fifth fingers |
| Short fifth middle phalanx | ||
| Abnormal carpal bones | ||
| Extremities | Madelung deformity | Madelung deformity |
| Spine | Lumbar scoliosis, mild | Lumbar scoliosis, mild |
| Hip | Bilateral hip dysplasia | Bilateral hip dysplasia |
| Laboratory findings | ||
| Karyotype | 46XX (19 months)a | ND |
| Bone age | 2- to 3-yr delay during childhood | 2- to 3-yr delay during childhood |
| Free T4 (0.6–1.2 ng/dl) | 0.7 (19 yr) | 0.6 (16 yr) |
| TSH (0.34–5.60 mU/liter) | 3.91 (19 yr) | 1.67 (19 yr) |
| GH peak (ng/ml, >7) | 21 (19 months) | NDa |
| GHBP (534–5785 pmol/liter) | 4191 (16 yr) | 3039 (12 yr) |
| IGF-I basal (ng/ml) | 83 (30–122) (19 months) | 126.2 (117–771) (2 yr) |
| IGF-I on GH (261–1096 ng/mL) | 742 (12 yr) | 505 (10 yr) |
| IGFBP-3 (2.2–5.9 mg/liter) | 3.48 (16 yr) | 2.60 (12 yr) |
| Cortisol, baseline (mcg/dl) | 15.7 (22 yr) | 8 (18 yr) |
| Cortisol, 30 min after 1 μg cosyntropin | 20.0 | 22.5 |
sd scores are based on the standards of the U.S. Centers for Disease Control and Prevention (18). ND, Not done; SDS, sd score; GHBP, GH binding protein; IGFBP, IGF binding protein.
a
Age test carried out (in parentheses).