Table 3.
Hormone deficiency profiles of the patients
| Patient/family member | A-1 | A-2 | A-3a | B-1 | C-1 | Normal range |
|---|---|---|---|---|---|---|
| Sex | F | F | M | M | F | |
| GH max [on conventional testing (arginine or insulin), ng/ml] | 2.9 | 4.4 | nd | 2.25 | 0.3b | >8.0 |
| GH max [on arginine-GHRH, ng/ml]a | 1.2 | 17 | 20 | nd | nd | <20c |
| TSH (not stimulated, mU/liter) | 0.01 | 0.5 | 0.5 | 1.74 | 6.7b | 0.2–3.1 |
| Free T4 (without thyroxine replacement, ng/dl) | 1.01d | 1.32 | 1.24 | 0.55 | 0.5 | 0.9–1.58 |
| TSH max (stimulated on TRH, mU/liter) | 0.1 | 3.9 | 3.8 | 7.52 | nd | Increase > 2.5 times basal value |
| Cortisol (not stimulated, ng/ml) | 14.5 | 269 | 131 | 63 | 1.2b | 104−278 |
| Cortisol max (stimulated on CRH, ng/ml) | 28.2 | 264 | 181 | 184 | nd | Increase > 50% |
| Estradiol (F) (nmol/liter) | <73 | <71 | nd (age) | F (E): >67 | ||
| Testosterone (M) (nmol/liter) | 24 | 0.4 | M (T): >5.6 | |||
| LH/FSH (not stimulated, U/liter) | <0.1/<0.1 | 1.9/7.1 | 4.0/5.4 | 0.4/0.7 | nd (age) | F: 2–20/2–20 |
| M: 0.8–8/1.2–10.1 | ||||||
| LH/FSH (stimulated, U/liter) (age at testing in yr) | <0.1/<0.1 (19) | 8.7/13 (17) | 24/9.7 (46) | <0.5/0.5 (15) | nd (age) | F: two times basal/>10; M: >12/>4.5 |
| PRL (not stimulated, mU/liter) | 185 | 812 | 146 | 231 | nd | 115–550 |
| PRL max (stimulated on TRH, mU/liter) | 390 | 1365 | 617 | 343 | nd | Increase two times |
E, Estradiol; F, female; M, male; max, maximum; nd, not done; nd (age), not done because still at prepubertal age; PRL, prolactin; T, testosterone.
a
Patients were tested in adulthood.
b
Levels obtained on critical sample at the time of hypoglycemia.
c
Donaubauer et al. (26). Hormone measurement of patients in families A–C was performed in three different pediatric endocrinology centers with different assays. Therefore, absolute values may differ.
d
l-T4 was stopped just 4 d before testing; total T4 was 5.08 μm/dl.