Table 2.
Clinical characteristics of patients with R96W or R96Q mutations.
| Mutation site | c.287G>A ((p.R96Q), homozygous | p.R96W, homozygous | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case, reference | Our case | Athanasoulia et al. (5) | Mula-Abed et al. (6) | Camtosun et al. (7) | Brooke et al. (4) | Deeb et al. (8) | Laflamme et al. (9) | Costenaro et al. (10) | Martin et al. (11) | |||
| Patient, nationality | P0 (Asian) |
P1 (Caucasian) |
P2 (Oman) |
P3 (Turkey) | P4 (Arab) |
P5 (Arab) |
P6 (Arab) |
P7 (Arab) |
P8 (Canadian-French) |
P9 (Canadian-French) |
P10 (Brazilian) | P11 (Brazilian) |
| Diagnosis age (years) | 22 (3)* | 17 | 22 | 9 (2.5)* | 17 | 14 | 14 | 8 | 5 | 11 | 16 | 19 |
| Presenting feature | Primary amenorrhea (inguinal hernia)* |
Primary amenorrhea | Hypertension | Low normal potassium (inguinal hernia)* | Germ cell tumor |
Family screening | Headache hypertension | Hypertension | Inguinal hernia | Family screening | Primary amenorrhea | Sexual infantilism |
| Karyotype | 46,XY | 46,XY | 46,XY | 46,XY | 46,XX | 46,XX | 46,XX | 46,XX | 46,XY | 46,XY | 46,XY | 46,XY |
| 8:00 Cortisol (nmol/L) |
< 27.6 | 63.9 | < 30 | / | 15 | / | / | / | 20 | 16 | 50 | / |
| ACTH (pg/ml) | 133 | 77.1 | 78.8 | / | 21 | 55.7 | 35 | 198 | / | / | 476 | 99 |
| FSH/LH (IU/L) | 86.86/45.71 | 73.7/77.7 | 60.5/18.3 | 13.99/2.19 | 32/60 | / | / | / | 85/16 | 63/55 | 46.6/60.1 | 34/26 |
| Testosterone (ng/ml) | 0.03 | <0.03 | 0.01 | 0.928 | 0.12 | Undetectable | Undetectable | Undetectable | / | / | < 0.1 | 2.6 |
| DHEAS (µg/dl) | 41.4 | 1.91 | 0.67 | 5.59 | Undetectable | Undetectable | Undetectable | Undetectable | 0.2 | 0.2 | 2 | Undetectable |
| Estradiol (pg/ml) | 0.39 | 5 | < 9.5 | 11.89 | 88 | / | / | / | / | / | < 5 | < 10 |
| 17-OHP (ng/ml) | 0.14 | 0.3 | 0.17 | 0.04 | Undetectable | 1.8 | Undetectable | Undetectable | 1.3 | 1.4 | 1.8 | 0.2 |
| Potassium (mmol/L) | 2.8 | Normal | Normal | 3.7 | 2.5 | 3.8 | 3.3 | 3.3 | 3.5 | 3.8 | 3.2 | 3.3 |
| Blood pressure (mmHg) | 164/122 | 120/100 | 145/90 | Normal | 170/96 | 163/117 | 155/110 | 153/85 | Normal | Normal | 150/115 | 150/105 |
| Treatment | DXM, estradiol | HC, estradiol |
DXM, estradiol | HC | Tumor resection, PREDNIS, estradiol |
Anti-HP, HC, estradiol |
HC | Not recorded | PREDNIS, estradiol |
Not recorded | ||
DXM, dexamethasone; HC, hydrocortisone; PREDNIS, prednisolone; Anti-HP, antihypertensive drugs.
*Our patient was diagnosed of 17-OHD at age 22 years, because of primary amenorrhea, but she should have been diagnosed when an inguinal hernia was detected at age 3 years. Same as the case reported by Camtosun et al.