Table 1.
Clinical and biochemical features of the pseudohypoparathyroidism (PHP) cases
| Family 1 |
Family 2 |
|||||
|---|---|---|---|---|---|---|
| Case 1‡ (IV.2) | Case 2 (III.3) | Case 3 (IV.6) | Case 4 (IV.8) | Case 5 (IV.1) | Case 6 (III.3) | |
| Sex | Male | Female | Female | Male | Male | Female |
| Age at diagnosis (years) | 9 | 54 | 20 | 11 | 5 | 23 |
| Rounded face | Yes | Yes | Yes | Yes | Yes | No |
| Weight (kg) | 26 (−1SD) | 66.8 (+2.5SD) | 55 (−0.5SD) | 30 (−1SD) | 21.6 (+1.5SD) | 51.8 (−1.5SD) |
| Height (cm) | 124.7 (−2SD) | 146.5 (−3SD) | 137 (−3SD) | 127 (−3SD) | 107 (−0.5SD) | 149.3 (−3SD) |
| Midparental height (cm) | 162.2 | NA | NA | NA | 157 | NA |
| Macrocephaly | Yes | Yes | Yes | Yes | Yes | No |
| Subcutaneous ossifications | No | Yes§ | No | No | Yes§ | No |
| Intracranial calcifications | Yes | Yes | Yes | Yes | Yes | Yes |
| Brachydactyly | No | Yes | Yes | Yes | Yes | No |
| Cataracts | No | Yes | Yes | Yes | No | Yes |
| Cognitive impairment | Yes | Yes | Yes | Yes | Yes | No |
| Calcium (2.2–2.6 mmol/L)* | 2.18 | 2.72 | 1.42 | 1.45 | 1.32 | 1.79 |
| Phosphate (mmol/L) | 2.09 (1.3–2.26) | 1.16 (1–1.5) | 1.67 (1–1.5) | 2.55 (1–1.5) | 3.32 (1.3–2.26) | 1.61 (1–1.5) |
| PTH (10–65 pg/ml) | 940 | 54 | 113 | 633 | 434 | 244 |
| Free T4 (0.7–1.9 ng/dl) | 1.2 | 1.16 | 1.04 | 0.88 | 0.7 | NA |
| TSH (0.5–5 mU/L) | 2 | 1.11 | 7.22 | 5.71 | 16 | 13 |
| Anti-thyroglobulin antibodies (0–60 IU/ml) | Negative | Negative | Negative | Negative | Negative | 192.6 |
| FSH/LH (IU/L)† | 3.35/9.85* | 33.7/67.2 | 37/11 | 1.6/5.8 | 1.9/0.5 | NA |
| Twenty-four-hour urinary calcium excretion (100–250 mg/24 h) |
131.8 | 159.6 | 70 | 100 | 172.8 | 165.6 |
| GNAS molecular defect | Loss of imprinting | Gsα coding mutation | Gsα coding mutation | Gsα coding mutation | Gsα coding mutation | Loss of imprinting |
FSH, follicle-stimulating hormone; LH, luteinising hormone; NA, not available; PTH, parathyroid hormone; TSH, thyroid-stimulating hormone.
All data were measured at the time of PHP diagnosis except gonadotropin levels of case 1, which were measured at 18 years of life.
*
Total serum calcium.
†
FSH and LH normal ranges in premenopausal women 1.4–21 and 0.8–57 IU/L, postmenopausal women 34–96 and 40–140 IU/L, and men 0.5–15 and 1.3–13 IU/L.
‡
The patient was already on levothyroxine treatment at the time of diagnosis.
§
Radiograms reveal subcutaneous calcified lesions and mass; however, no biopsy information is available for determining ossification.