Table 1.
Clinical and Hormonal Features of Affected Girls With Familial CPP Associated With Deletion of Exon 1 of DLK1 at Initial Diagnosis and Last Visit
| Patient III.3 | Patient III.2 | Patient III.1 | Patient III.7 | |
|---|---|---|---|---|
| Initial diagnosis | ||||
| Clinical manifestation, y | Thelarche (5.5) Pubarche (6.0) | Thelarche (5.0) | Thelarche (4.6) | Thelarche (5.9) Pubarche (6.0) |
| Age at first visit, y | 6.7 | 8.0 | 6.4 | 6.9 |
| Height, cm (SD) | 129.5 (2.5) | 136.3 (1.2) | 125.5 (1.7) | 127.5 (1.6) |
| BMI, kg/m2 (percentile) | 17.9 (87%) | 19.5 (95%) | 16.8 (83%) | 17.3 (78%) |
| Breast development (Tanner stage) | 4 | 4 | 3 | 4 |
| Pubic hair (Tanner stage) | 2 | 1 | 1 | 3 |
| Bone age, y | 11 | 11 | 7 | 10.6 |
| Basal and stimulated LH levels, UI/La | 1.9/31.5 | 1.7/26.9 | <0.6/11.4 | 1.6/23.5 |
| Estradiol, pg/mlb | 53.3 | 34.9 | <13 | 29 |
| Last visit | ||||
| Age, y | 22 | 21 | 18 | 16 |
| Duration of GnRHa treatment, y | 4.2 | 3.0 | 4.2 | 3.6 |
| Weight, kg | 71.6 | 55.5 | 84 | 56.1 |
| Target height, cm (SD) | 166 (0.6) | 158.5 (−0.6) | 158.5 (−0.6) | 166.5 (0.7) |
| Height, cm | 156.5 | 159.7 | 159.3 | 160.5 |
| BMI, kg/m2 | 29.2 | 22 | 33.1 | 22.1 |
| Age of menarche, y | 12 | 12 | 12 | 10.8 |
| Basal LH/FSH, UI/La | 3.3/5.1 | 2.9/2.5 | 5.5/7.0 | 0.2/0.6 |
| Estradiol, pg/mLb | 83 | 170.1 | <15 | 26.5 |
Breast and pubic hair Tanner stage and bone age were assessed at the time of first visit.
Abbreviations: BMI: body mass index; FSH, follicle-stimulating hormone.
a
Immunofluorometric assay.
b
Fluoroimmunoassay.