Table 1.
Overview and details of the articles included in the present systematic review.
| Reference |
Sample size (CAH) |
Age range (years) | CAH-type | Karyotype | Prader grade | Gender of rearing | Informants | Country | Comparison group | Study design |
|---|---|---|---|---|---|---|---|---|---|---|
| Binet et al. (2016) | Females (n = 28) |
16–40 | SW (n = 4) SV (n = 24) |
46, XX | II–IV | Unknown | Patients and parents | France | Three couples-controls (parents-child) per patient, matched age, sex assigned at birth, and ethnic origin, (n = 126) | Retrospective case study vs. control group |
| Brinkmann et al. (2007) | Females (n = 11) |
19–40 | SW (n = 8) SV (n = 3) |
46, XX | II–V | Two SW first assigned as boys, reassigned as girls (9 months and 2 years of age) | Patients and medical records | Germany | DSD (5α RD/17βHSD, CAIS, PAIS, GD) (n = 26) | Retrospective cohort |
| Callens et al. (2016) | Females (n = 41) |
16–46 | SW (n = 33) SV (n = 6) Late onset (n = 2) |
46, XX | Did not use Prader scores, but they used level of confluence of the vagina and the urethra at birth | Females | Patients | The Netherlands | University students males (n = 46) females (n = 79) |
Not mentioned |
| Dittmann et al. (1992) | Females (n = 34) |
11–41 | SW (n = 12) SV (n = 20) Unknown (n = 2) |
Unknown | Unknown | Unknown | Patients | Germany | Sisters, n = 14 |
Comprehensive interview study |
| Ehrhardt et al. (1968a) | Females (n = 23) |
19–55 | Late-treated (after eight years of age) (SV 21-OHD) |
Unknown | Eighteen had gone through clitorectomy | All had been declared females at birth except one, who was reassigned female at 14 months of age | Patients | USA | No | Cross-sectional |
| Ehrhardt et al. (1968b) | Females (n = 15) |
5–16 | Early treated (from infancy on) |
46, XX | Unknown | Seven assigned males at birth reassigned as females within the first seven months of life | Patients Mothers |
USA | Matched control group (n = 15) assembled from two public schools | Cross-sectional |
| Ehrhardt (1979) | Females (n = 13) |
11–24 | Early treated | 46, XX | Unknown | Unknown | Patients | USA | No | Cross-sectional |
| Fagerholm et al. (2011) | Females (n = 15) |
15–36 | SW (n = 3) SW (n = 12) |
46, XX | Unknown | Unknown | Patients | Finland | Age matched controls (n = 900) |
Not mentioned |
| Falhammar et al. (2012)* | Males (n = 32) |
19–67 | SW 21-OHD (n = 17) SW 3β-HSD2D (n = 1) SV 21-OHD (n = 12) NC 21-OHD (n = 2) |
46, XY n = 31 46, XX n = 1 |
V n = 1 VI n = 30 Other# n = 1 |
Male | Patients | Sweden | Age matched controls (n = 32) |
Case-control |
| Falhammar et al. (2017) | Males (n = 221) | 15–81 | SW (n = 83) SV (n = 65) NC (n = 17) |
Unknown | Unknown | Male | Linking of national population-based registers | Sweden | Sex-, age and place of birth matched controls (n = 22024) |
Population-based national cohort study |
| Frisen et al. (2009)** | Females (n = 62) | 18–63 | SW (n = 29) SV (n = 27) NC (n = 6) |
46, XX | I (n = 12) II (n = 13) III (n = 16) IV–V (n = 21) |
Female | Patients | Sweden | Age-matched (n = 62) | Case-control |
| Gastaud et al. (2007) | Females (n = 35) |
18–43 | 21-OHD | Unknown | I (n = 4) II (n = 6) III (n = 11) IV (n = 11) V (n = 3) |
Female | Patients | France | Age- and ethnic-matched controls (n = 69) | Cross-sectional |
| (Gupta et al., 2006) | Females (n = 50) |
4–26 | SW (n = 17) SV (n = 33) |
Unknown | III –IV (n = 39) | Female sex assignment at birth (n = 39), 9 assigned male sex. Reassigned as females after CAH was diagnosed | Unknown | India | No | Retrospective cohort |
| Hines et al. (2004) | Females (n = 16) Males (n = 9) |
18–44 | 21-OHD (n = 23) SW (n = 22) Unclear (n = 2) | Unknown | Unknown | Unknown | Patients | UK | Unaffected female (n = 15) and male (n = 10) relatives |
Cross-sectional |
| (Johannsen et al., 2006) | Females (n = 40) |
17–51 | CYP21 mutations (n = 33) SW (n = 21) SV (n = 6) NC (n = 5) Unclear (n = 1) StAR mutations (n = 3) CYP17 mutation (n = 1) Mutation in the POR gene (n = 3) |
46, XX | Unknown | Unknown | Patients | Denmark | Civil Registry (n = 40) | Case-control study |
| Jurgensen et al. (2013) | Females (n = 74) (grouped with other diagnosis in the category DSD-XX-P-F) |
n = 30 adolescents (13–16)n = 44 adults (17 or older) | Unknown | 46, XX | The majority of the participants had surgery | Unknown | Patients and parents | Germany, Austria, and Switzerland | Control data from the secondary school survey in Northern Germany (unpublished) n = 546,36 No control data for adults |
Observational study |
| Kanhere et al. (2015) | Females (n = 27) |
14–26 or older (exact age not available) | 21-OHD SW (n = 17) SV (n = 10) |
Unknown | Mildly to moderately virilized genitalia | Unknown | Patients | USA | No | Not mentioned |
| Khorashad et al. (2017) | Females (n = 18) |
14–26 | Unknown | 46, XX | I–V | Females | Patients and parents | Iran | CAIS (n = 19) | Not mentioned |
| Kuhnle et al. (1993) | Females (n = 45) |
Above 18 years of age | 21-OHD SW (n = 20) SV (n = 17) NC (n = 8) |
Unknown | I 7.8% II 17.5% III 35.1% IV 36.1% V 1.8% |
Females | Patients | Germany | Hospital staff and families (n = 46) | Cross-sectional |
| Lee et al. (2010) | Males (46, XX) (n = 12) |
35–69 | 21-OHD | 46, XX | IV–V | Ten raised as males, Two raised as females |
Patients and physicians | USA | No | Case series |
| Lesma et al. (2014) | Females (n = 12) |
24–31 | Unknown | Unknown | Unknown | Unknown | Patients | Italy | Healthy university students (n = 12) |
Case series |
| Lev-Ran (1974) | Females (n = 18) |
18 (13)−43 | Late-treated (youngest was 11 years) | Unknown | Fourteen had clitorectomy performed | Unknown | Patients | USSR | No | Not mentioned |
| Liang et al. (2008) | Females (n = 11) |
8–25 | 3 SW 8 SV |
46, XX | All were born with varying degree of virilization |
Females | Parents and patients | Taiwan | No | Cross-sectional |
| May et al. (1996) | Females (n = 19) |
18–37 | 21-OHD | Unknown | II–III (n = 5) IV–V (n = 13) |
Unknown | Patients | UK | Diabetes mellitus (n = 17) | Comparative study |
| Meyer-Bahlburg et al. (2008) | Females (n = 143) |
18–61 | 21-OHD SW (n = 40) SV (n = 21) NC (n = 82) |
46, XX | Unknown | Unknown | Patients | USA | Sisters and female cousins (n = 24) |
Cross-sectional |
| Money et al. (1984) | Females (n = 30) |
17–26 | Unknown | 46, XX | All born with clitoromegaly without urethral closure to form a penile meatus and without complete labioscrotal fusion | Females | Patients | USA | AIS (n = 15) and MRKH (n = 12) |
Not mentioned |
| Morgan et al. (2005) | Females (n = 18) |
18–36 | Unknown | 46, XX | Unknown | Females | Patients | UK | No | Cross-sectional |
| Mulaikal et al. (1987) | Females (n = 80) |
18–69 | 40 SW 40 SV All had 21-OHD |
46, XX | Unknown | Unknown | Patients | USA | No | Not mentioned |
| Slijper et al. (1992) | Females (n = 18) |
16–33 | 8 SW 1 SV 1 11β-OHD The rest is unknown |
46, XX | 8 had gender reassignment (6 at 0–3 months, 2 at 6 months) | Unknown | Patients and parents | The Netherlands | Patients with other DSD (n = 41) |
Not mentioned |
| Zucker et al. (1996) | Females (n = 31) |
18–40 | 19 SW 12 SV |
46, XX | Unknown | Unknown | Patients | Canada | Sisters and female cousins (n = 15) |
Not mentioned |
*
Some of the data extracted from another publication (Lolis et al., 2018);
**
some of the data extracted from other publications on the same cohort (Hagenfeldt et al., 2008; Nordenskjold et al., 2008).
#
Severe penoscrotal hypospadias, micropenis, cryptorchidism, and bifid scrotum were found on the patient with 3βHSD2D. 21-OHD, 21-hydroxylase deficiency; 3βHSD2D, 3β-hydroxysteroid dehydrogenase type 2 deficiency.