Table 4.
Characteristics of studies on patients with pseudohypoparathyroidism.
| References | Design | Total no. of patients | Mean age (yr) [age range] | Gender M/F | Country | Diagnose | No of patients with genetic analysis (genetic diagnose verified) | Biochemical testsa |
|---|---|---|---|---|---|---|---|---|
| PSEUDOHYPOPARATHYROIDISM (NO. OF STUDIES n = 21, TOTAL NO. OF PATIENTS n = 56) | ||||||||
| Jensen et al., 1981 | Case series | 6 | 24 [10–47] | 3/3 | Denmark | PHP | 0 (0) | 1, 2, 3 |
| Okano et al., 1969 | Case report | 1 | 22 | 1/0 | Japan | PHP | 0 (0) | 6 |
| Ritchie, 1965 | Case series | 4 | 19 [10–24] | 1/3 | England | PHP | 0 (0) | – |
| Croft et al., 1965 | Case report | 1 | 12 | 0/1 | Brazil | PHP | 0 (0) | 1, 2, 6 |
| Cohen, 1991 | Case report | 1 | 21 | 1/0 | USA | PHP | 0 (0) | – |
| Illum et al., 1980 | Case series | 6 | 24 [10–47] | 3/3 | Denmark | PHP | 0 (0) | 1, 5 |
| Witkop, 1976 | Case report | 1 | 12 | 0/1 | – | PHP | 0 (0) | – |
| Myllärniemi and Perheentupa, 1978 | Case series | 2 | 11 [9-14] | 1/1 | Finland | PHP | 0 (0) | – |
| Nikiforuk and Fraser, 1981 | Case series | 4 | < 18 | – | Canada | PHP | 0 (0) | 1, 2 |
| Lagarde et al., 1989 | Case report | 1 | 17 | – | France | PHP | 0 (0) | – |
| Glynne et al., 1972 | Case report | 1 | 32 | 0/1 | Scotland | PHP | 0 (0) | 1, 6 |
| Storm et al., 1985 | Case report | 1 | 3 | 0/1 | Denmark | PPHP | 0 (0) | – |
| Velez et al., 2009 | Case report | 1 | 14 | 0/1 | African American | AHO | 0 (0) | 1 |
| Gomes et al., 2002 | Case report | 1 | 17 | 0/1 | Brazil | AHO | 1 (1) | 1, 2 |
| Hugar et al., 2014 | Case report | 1 | 32 | 1/0 | India | AHO | 0 (0) | 1, 6 |
| Goswami et al., 2009 | Case report | 1 | 13 | 0/1 | India | AHO | 0 (0) | 1, 2 |
| Brown and Aaron, 1991 | Case report | 1 | 14 | 1/0 | USA | AHO | 0 (0) | 1 |
| Sengupta et al., 2012 | Case report | 1 | 16 | 0/1 | India | AHO | 0 (0) | 1, 2, 5 |
| Delantoni et al., 2017 | Case report | 1 | 28 | 1/0 | Greece | Type 1a | 0 (0) | 1, 2 |
| Reis et al., 2016 | Case series | 6 | 23 [8–32] | 3/3 | Brazil | AHO | 6 (6) | – |
| Reis et al., 2016 | Case series | 13 | 29 [10–48] | 7/6 | Brazil | Type 2b | 13 (13) | – |
| Gallacher et al., 2017 | Case report | 1 | 23 | 1/0 | United Kingdom | Type 1b | 1 (1) | 1, 5 |
| Total | 56 | |||||||
–, No data reported.
a
Biochemical test carried out: 1: low calcium serum concentration, 2: high phosphate concentration, 3: low serum parathyroid hormone (PTH), 4: a rise in the plasma calcium concentration or/and a drop in plasma phosphate concentration in response to the injection of parathyroid hormone, 5: high PTH level, 6: PTH level and thyroid function test.