Table 1.
Summary of clinical, genetic, and hormonal findings in five female pubertal ORD patients
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | |
|---|---|---|---|---|---|
| Ethnicity | White Caucasian | White Caucasian | White Caucasian | White Caucasian | White Caucasian |
| Karyotype | 46,XX | 46,XX | 46,XX | 46,XX | 46,XX |
| POR mutations (p.) | A287P/R457H | A287P/A287P | A287P/A287P | T142A/Y376 LfsX74 | A287P/R223X |
| 46,XX DSD | Yes | Yes | Yes | No | Yes |
| Skeletal malformations | Mild | Mild | Mild | Overt at birth | Overt at birth |
| Age at investigation (yr) | 16 | 12 | 23 | 19 | 16 |
| Tanner stages | PH4, B4, M0 | PH2, B1, M0 | PH3, B3, M0 | PH3, B5, M1 | PH3, B3, M0 |
| Height (cm) | 168 (0.9 SDS) | 148 (−1.4 SDS) | 166 (0.4 SDS) | 182.5 (2.0 SDS) | 158.7 (−0.7 SDS) |
| Target height (cm) | 168 (−0.9 SDS) | 61 (0.9 SDS) | 1545 (−1.5 SDS) | 175 (+0.8 SDS) | 169.5 (+0.5 SDS) |
| Weight (kg) | 51.3 (−0.7 SDS) | 32.0 (−2.2 SDS) | 61.4 (−0.3 SDS) | 88.0 (3.1 SDS) | 40.2 (−2.4 SDS) |
| BMI (kg/m2) | 18.2 (−0.9 SDS) | 14.61 (−2.1 SDS) | 22.3 (0.5 SDS) | 26.3 (1.5 SDS) | 16.1 (−2.3 SDS) |
| ACTH (pmol/liter) | 3.1 (2.2–11) | 34.8 (2.2–11) | 22 (2.2–11) | 19 (2.2–11) | 5.3 (2.2–11) |
| Cortisol (nmol/liter) | |||||
| Baseline | 289 (150–780) | 607 (150–780) | 149 (150–780) | 375 (150–780) | 190 (120–780) |
| 60 min after 250 μg ACTH1-24 iv | 436 (>550) | 717 (>550) | 158 (>550) | 425 (>550) | 314 (>550) |
| Adrenal insufficiency | Yes | No | Yes | Yes | Yes |
| Progesterone (nmol/liter) | |||||
| Baseline | 8.8 (0.9–2.3) | 256 (0.3–14.1) | 45.8 (<3) | 58 (0.9–2.3) | 28.8 (0.1–5.1) |
| 60 min after 250 μg ACTH1-24 iv | 53.4 | 307 | 181.5 | 83 | >191 |
| 17OHP (nmol/liter) | |||||
| Baseline | 25.7 (0.45–2.9) | 72.7 (0.45–2.9) | 67.5 (<5) | 25 (0.45–2.9) | 15 (0.1–8.1) |
| 60 min after 250 μg ACTH1-24 iv | 53.4 | 86.8 | 82.3 | 36 | n.m. |
| Androstenedione (nmol/liter) | 2.6 (1.8–12.9) | 3.45 (2.8–6.6) | n.m. | 0.6 (3.0–9.6) | 1.7 (0.1–5.5) |
| DHEAS (μmol/liter) | 5.7 (1.1–6.2) | 2.41 (0.8–9.3) | 2 (2.5–5.25) | 1,2 (3.0–13.0) | 4.2 (0.4–7.9) |
| Testosterone (nmol/liter) | n.m. | n.m. | 0.48 (<2.4) | 1.1 (1.0–3.5) | 0.48 (0.1–1.7) |
| E2 (pmol/liter) | 53.5 (78–312) | Undetectable | n.m. | 90 (70–530) | 84 (66–246) |
| LH (U/liter) | 35.0 (1.1–3.7) | 19.0 (0.3–1.2) | 53.0 (0.7–4.7) | 6.1 (1.1–3.7) | 19.2 (0.7–4.7) |
| FSH (U/liter) | 12.6 (3.1–8.1) | 17.0 (1.6–7.3) | 29.0 (3.9–7.0) | 10.0 (3.1–8.1) | 13.1 (3.9–7.0) |
n.m., Not measured; SDS, sd score.