Table 1.
Serum hormone levels in the proband with LHB mutation, his affected sister and members of their family.
| Subject No. † | Sex | Age | LH | FSH | Testosterone | Androstene | 17β-Estradiol | Estrone | Inhibin B | AMH | α-Subunit | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Baseline | Peak | Baseline | Peak | ||||||||||
| Yr | IU/L | ng/mL | μg/L | pg/mL | pg/mL | pg/mL | ng/mL | IU/L | |||||
| IV-3 (proband) | M | 43 | ND | ND | 20.7 | 29.8 | 0.48 * | 0.62 | <10 | 29 | 71.6 | 9.3 | 1.28 |
| IV-5 (affected sister) | F | 46 | ND | ND | 53.3 | 13 | |||||||
| IV-4 (unaffected) | F | 32 | 4.5 | 4.6 | 66 | ||||||||
| IV-2 (unaffected) | M | 40 | 2.5 | 5.4 | 4.00 | ||||||||
| III-2 (unaffected) | F | 71 | 24.5 | 42.3 | <10 | ||||||||
| Normal range | |||||||||||||
| Male | 0.8–7.6 | 0.7–11.1 | 3.30–10.00 | 0.2–2.90 | <35 | 10–60 | 60.0–330.0 | 3.0–5.4 | <0.70 | ||||
| Female | 1.1–11.6 | 3.3–46.4 | 3.0–14.4 | 4.5–28.8 | 30–50 for follicular phase, 150–230 for luteal phase | ||||||||
The peak value was the maximum level measured within 90 min of the intravenous administration of 100 μg of gonadotropin-releasing hormone. Serum levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were determined by means of an immunometric chemiluminescence assay (Siemens). The intraassay coefficient of variation was between 3.40% and 13.10% for LH (the latter value, at levels ≤0.15 IU per liter) and between 2.9% and 3.4% for FSH. The inter-assay coefficient of variation was between 6.2% and 23.9% for LH (the latter value, at levels ≤0.15 IU per liter) and between 4.1% and 4.8% for FSH. The sensitivity of the LH assay was 0.05 IU per liter. The T level was determined with the use of a radioimmunoassay (Orion Diagnostica). The intra- and inter-assay coefficients of variation were between 3.8% and 7.5% and between 4.8% and 7.0%, respectively. The sensitivity of the T assay was 0.029 ng per milliliter (0.100 nmol per liter) (limit of measurement, 0.140 to 14.400 [0.5 to 50.0]). To convert values for T to nanomoles per liter, multiply by 3.467. To convert values for androstenedione to nanomoles per liter, multiply by 3.492. To convert values for 17β-estradiol to picomoles per liter, multiply by 3.671. To convert values for estrone to picomoles per liter, multiply by 3.699. ND denotes not detectable. † Data for the proband, Subject IV-3, are from the initial laboratory assays performed during the first consultation, 3 months after the last T injection. Subject IV-5 is the proband’s sister, who had amenorrhea and infertility. Data for Subject IV-4, another sister of the proband, are from tests performed on day 25 of her menstrual cycle. The pedigree is shown in Figure 2. * The mean (±SD) value for castrates in the T assay is 0.25 ± 0.03 ng/mL. From [46] with permission.