Table 1.
Phenotypic and Endocrine Findings of Cases 1–6
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | |
|---|---|---|---|---|---|---|
| Genomic rearrangement | Duplication | Deletion | Complex | Complex | Complex | Complex |
| Age at examination, y | 10 | 8 (18)a | 15 | 13 | 17 | 36 |
| Phenotypic findings | ||||||
| Gynecomastia (Tanner stage) | 2–3 | 3 | 4–5 | 3–4 | Severe | Severe |
| Onset of gynecomastia, y | 7 | Unknown | 8 | 11 | 7 | 5 |
| Mastectomy | No | Yes | Yes | No | Yes | Yes |
| Testis, mL | 6 | N.E. | 15 | 12 | Normal | Normal |
| Pubic hair (Tanner stage) | None | None | 3–4 | 4 | N.D. | Normal |
| Facial hair | None | None | None | Scarce | Scarce | None |
| Final height | Unknown | Unknown | −0.9 SD | Unknown | <1%ile | <1%ile |
| Bone age, yb | 13.0 | 13.5 | N.E. | 18.0 | N.E. | N.E. |
| Fertility (spermatogenesis) | Unknown | Unknown | Yes | Unknown | Unknown | Yes |
| Endocrine findingsc | ||||||
| At diagnosis | ||||||
| LH, mIU/mL | <0.1 (0.4–1.6) → 0.4 (10.9–20.6)d | 2.4 (1.6–3.5) | 1.3 (1.6–3.5) → 24.9 (21.7–39.5)d | 4.3 (1.4–9.2) | 1.7 (1.4–9.2) | |
| FSH, mIU/mL | 0.3 (1.7–4.2) → 1.6 (4.6–10.8)d | <1.0 (4.2–8.2) | 0.6 (4.2–8.2) → 2.1 (11.2–17.3)d | 2.7 (2.0–8.3) | 1.5 (4.2–8.2) | |
| T, ng/mL | 0.06 (0.4–1.1) → 3.6 (>2.0)e | 2.6 (2.8–7.0) | 0.7 (2.8–7.0) | 1.5 (2.8–7.0) | 2.3 (2.8–7.0) | 3.2 (2.8–7.0) |
| E1, pg/mL | 111 (14–50) | 556 (15–32) | 903 (15–32) | |||
| E2, pg/mL | 14 (<10) | 65 (10–35) | 406 (15–50) | 43 (2–30) | 392 (10–35) | 223 (10–35) |
| On AI treatment | ||||||
| LH, mIU/mL | 0.5 (0.4–1.6) → 7.3 (10.9–20.6)d | 44.8 (0.7–5.7)f | 4.7 (1.6–3.5) | 8.9 (1.4–9.2) | 2.9 (1.4–9.2) | |
| FSH, mIU/mL | 1.7 (1.7–4.2)→ 3.2 (4.6–10.8)d | 34.9 (2.0–8.3)f | 2.5 (4.2–8.2) | 5.6 (2.0–8.3) | 5.6 (4.2–8.2) | |
| T, ng/mL | 0.9 (0.4–1.1) | 8.6 (2.8–7.0) | 6.9 (2.8–7.0) | 5.3 (2.8–7.0) | 10.7 (2.8–7.0) | |
| E1, pg/mL | 89 (15–32) | 27 (15–32) | ||||
| E2, pg/mL | <10 (<10) | 6 (10–35) | 13 (15–50) | 59 (10–35) | 68 (10–35) | |
| Reference | Present study | Present study | Present study | Present study | Ref. 1 | Ref. 1 |
Abbreviations: AI, aromatase inhibitor; E1, estrone; E2, estradiol; N.D., not described; N.E., not examined. Abnormal clinical findings are boldfaced. Hormone values below the reference range (shown in parentheses) are underlined, and those above the reference range are boldfaced. Conversion factors to the SI unit: LH, 1.0 (IU/L); FSH, 1.0 (IU/L); E1, 3.699 (pmol/L); E2, 3.671 (pmol/L); and T, 3.467 (nmol/L).
Physical examination and endocrine studies were carried out at 8 and 18 years of age, respectively.
Assessed by the Tanner-Whitehouse 2 method standardized for Japanese or by the Greulich-Pyle method constructed for Caucasians.
Evaluated by age-matched male reference data.
GnRH stimulation tests (100 μg/m2, maximum 100 μg bolus iv; blood sampling at 0, 30, 60, 90, and 120 min).
Human chorionic gonadotropin stimulation tests (3000 IU/m2, maximum 5000 IU im for 3 consecutive days; blood sampling on d 1 and 4).
Increased levels of LH and FSH during AI treatment may be associated with low E2 levels (24).