Table 2.
Clinical and laboratory characteristics for six girls with MKRN3 mutations.
| Proband | MKRN3 mutation | Age at onset (years) | Age at referral (first visit) (years) | Stage of breast development | Stage of pubic hair | Stage of axillary hair | Bone age (years) | LHRH test FSH/LH(U/L) | MRI | Pelvic ultrasound | Comments/Other symptoms | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 | 30 | 60 | |||||||||||
| 1 | MKRN3:g.-865G>A | 5.4 | 7.4 | B3 | P2 | A1 | 10 | 1.95/5.3 | 8.9/9 | 7.7/7 | No | Pubertal | Hearing impairment/cochlear implants/first cousin from father's side same clinical picture |
| 2 | MKRN3:g.-865G>A | 7 | 7.8 | B4 | P3 | A1 | 12 | 3.2/2.4 | 14/19 | 12/21 | Normal | Pubertal | |
| 3 | MKRN3:g.-865G>A | N/A | 9.5 | B5 | P4 | A2 | 11.5 | 5.1/4.8 | – | – | No | Pubertal | Patient came at age 9.5 years with menarche |
| 4 | MKRN3:g.-865G>A | 6.1 | 8.8 | B3 | P2 | A2 | 9.6 | 3/4 | 15/19 | 16/15 | No | Normal | |
| 5 | MKRN3:g.-886C>T | N/A | 8.3 | B4 | P4 | A4 | N/A | 3/3 | 5/12 | 4/9 | Normal | Normal | Ovarian volume: post pubertal |
| 6 | MKRN3:g.+13C>T | 7.6 | 7.6 | B2 | P2 | A1 | 8.5 | 0.25/3.5 | – | – | No | No | Patient came back at age 9.1 y with menarche/Obesity-insulin resistance |