Table 1.
Overview and details about the included articles of the present systematic review
| Reference | Sample size | Age range (years) | CAH type | Informants | Recruitment site | Comparison group | Design |
|---|---|---|---|---|---|---|---|
| Arlt et al. [5] | 65 males | 18–69 | Majority 21OHD | Patients | UK | Health Survey for England data and reference cohorts | Quantitative |
| Berenbaum et al. [61] | 42 males | 3–19 11–31 |
21OHD Sample 1: SW (84%) Sample 2: SW (67%) |
Patients and parents | USA | Healthy controls Male relatives Population average |
Quantitative |
| Dudzinska et al. [37] | 20 males | 18–49 | 21OHD SW (n = 14) SV (n = 6) |
Patients | Germany | Healthy controls Norwegian norms |
Quantitative |
| Falhammar et al.a [76] | 253 males | 0.5–80 | 21OHD SW (n = 105) SV (n = 76) NCAH (n = 19) |
Patients from longitudinal nationwide population-based registers | Sweden | Register-based male controls, matched by birth year, sex, and place of birth (n = 25,300) | Quantitative |
| Falhammar, Nyström, and Thorén [29] | 30 males | 19–67 | 21OHD Classic (n = 28) NCAH (n = 2) |
Patients | Sweden | Sex- and age-matched controls | Quantitative |
| Gilban et al. [54] | 6 males | 5–17.9 | 21OHD SW (n = 4) SV (n = 2) |
Parents and patients | Brazil | Healthy controls | Quantitative |
| Idris et al. [58] | 20 males | 6–18 | Clinical and biochemical characteristics | Parents | Malaysia | Siblings American norms |
Quantitative |
| Jacobs et al. [56] | 5 males | 16–55 | 21OHD (n = 2) 11βOHD (n = 3) |
Patients | USA | None | Quantitative |
| Mueller et al. [36] | 33 males | 8–18 | Majority 21OHD SW (n = 20) SV (n = 11) |
Parents and patients | USA | Population estimates Other chronic disorders |
Quantitative |
| Reisch et al. [60] | 36 males | 18–65 | Classic 21OHD | Patients | Germany | Sex- and age match controls and patients with partial androgen insensitivity syndrome | Quantitative |
| Strandquist et al.a [57] | 253 males | 0.5–80 | 21OHD SW (n = 105) SV (n = 76) NCAH (n = 19) |
Longitudinal nationwide population-based registers | Sweden | Register-based male controls, matched by birth year, sex, and place of birth (n = 25,300) | Quantitative |
CAH congenital adrenal hyperplasia, 21OHD 21-hydroxylase deficiency, 11βOHD 11β-hydroxylase deficiency, SW salt-wasting, SV simple virilizing
aThe same patient cohort and controls were used but different aspects were investigated in the two studies