From: Pseudohypoparathyroidism: phenotypic spectrum in kindred
Patient A | Patient B | Mother | |
---|---|---|---|
AHO Features | |||
Brachydactyly | + | + | + |
Short stature | + (136cm, - 4.05 SDS) | + (134cm, -2.84 SDS) | + (145cm, -2.79 SDS) |
Obesity | + (32.44 kg/m2,+2.04 SDS ) | - | - |
Round face | + | + | - |
Ectopic ossification | - | - | - |
Cognitive dysfunction with need for special school | + | + | + |
PTH (0.9 -6.2pmol/L) | 26.4 | 27.2 | 8.1 |
Calcium (2.3-2.63mmol/L) | 2.19 | 2.35 | 2.31 |
Phosphate (1.0-1.8 mmol/L) | 1.4 | 1.7 | 1.2 |
FT4 (10.3-25.7pmol/L) | 12.4 | 15.4 | 13.6 |
TSH (0.50-4.50 mIU/L) | 8.05 | 8.36 | 3.42 |
FSH IU/L | 7.7 | 9.5 | |
LH IU/L | 8.92 | 5.01 | |
Estradiol pmol/L | 87 | 169 |