TABLE 1.
Biochemical profiles of affected family members
| Family member | II-2 (♀) | II-3 (♂) | II-5 (♂) | Normal range |
|---|---|---|---|---|
| Age (yr) | 26 | 25 | 14.5 | |
| FSH (mIU/ml) (U/liter) | 0.9 (0.9) | 5.3 (5.3) | 0.7 (0.7) | M, 1.4–18.1 (1.4–18.1); F, 2.5–10.2 (2.5–10.2) |
| LH (mIU/ml) (U/liter) | 0.1 (0.1) | 2.7 (2.7) | 0.1 (2.7) | M, 1.5–9.3 (1.5–9.3); F, 1.9–12.5 (1.9–12.5) |
| Estradiol (ng/dl) (pmol/liter) | 0.6 (22) | ND | ND | M, 0.8–3.5 (26–128); F, 6.3–16.5 (231–605) |
| Testosterone (ng/dl) (nmol/liter) | ND | 72.0 (2.4)a | 2.0 (0.06) | M, 350–1030 (11.9–35); F, 14–76 (0.47–2.58) |
| GnRH stimulation testb | ||||
| Maximum FSH (mIU/ml) (U/liter) | 11.0 (11.0) | ND | 2.9 (2.9) | |
| Maximum LH (mIU/ml) (U/liter) | 4.0 (4.0) | ND | 0.5 (0.5) | |
| Prolactin (pg/ml) (nmol/liter) | 5.5 (0.2) | 9.4 (0.4) | 5.0 (0.2) | M, 2.1–17.7 (0.08–0.74); F, 2.8–29.2 (0.11–1.22) |
| TSH (mIU/liter) (mIU/liter) | 0.74 (0.74) | 1.5 (1.5) | 2.2 (2.2) | 0.35–4.2 (0.35–4.2) |
| Free T4 (ng/dl) (pmol/liter) | 1.1 (14) | 1.3 (16.7) | 1.6 (20.6) | 0.89–1.8 (11.5–148.3) |
| Cortisol (μg/dl) (nmol/liter) | 8 (224) | 10.7 (300) | 12.5 (350) | 3–25 (85–700) |
| IGF-I (ng/ml) (μg/liter) | ND | ND | 175 (175) | M, 155–432 (155–432); F, 87–368 (87–368) |
Conversion factors to SI units are: × 1 U/liter, for FSH and LH; × 36.71 pmol/liter, for estradiol; ×0.0346 nmol/liter, for testosterone; ×0.0426 nmol/liter, for prolactin; ×1 mIU/liter, for TSH; ×12.9 pmol/liter, for free T4; ×27.59 nmol/liter, for cortisol; and ×1 μg/liter, for IGF-I. SI units are shown in italics. M, Male; F, female; ND, not determined.
a
On testosterone enanthate injection.
b
Ref. 6.