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Table 4 Completeness of data in the I-DSD and I-CAH Registries in core data, according to disorders and in optional data by centres

From: An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development

Data Scope Variables Completeness
<50%
Completeness
50–75%
Completeness
≥75%
Optional Core data All cases in
I-DSD and I-CAH Registries
n1 = 2155
n = 2
-Actual diagnosis
-Age of first presentation
- - 99%
80%
All data Data in each disorder in all cases in the
I-DSD and I-CAH Registries
n1 = 2155
(CAH Longitudinal module excluded)
n = 61 -Other (n1 = 144) -Disorder of gonadal development (n1 = 418)
Disorder of androgen synthesis (n1 = 247)
-Non specific disorder of under masculisation (n1 = 209)
-Persistant Müllerian Duct Syndrome (n1 = 15)
-Cloacal anomaly (n1 = 4)
-CAH (n1 = 604)
-Disorder of androgen action (n1 = 474)
-Leydig Cell Defects (n1 = 23)
-Defects of Müllerian development (n1 = 17)
Optional data Data by centre in the I-DSD Registry
n1 = 1551
n = 55 n3 = 17
n2 = 2 (1-224)
n3 = 9
n2 = 26 (6-91)
n3 = 20
n2 = 18 (1-122)
Optional data Data by centre in the I-CAH Registry
n1 = 604
n = 55 n3 = 14
n2 = 16 (1-54)
n3 = 10
n2 = 15 (5-59)
n3 = 7
n2 = 2 (1–26)
Optional data Longitudinal module in the I-CAH Registry
n1 = 173
n = 47 n3 = 2
n1 = 29
n3 = 2
n1 = 50
n3 = 11
n2 = 26 (4-72)
  1. -Total Number of variables in the non longitudinal module; which is a common module between the two Registries; is 65 with 4 identifiers so, we assessed 61 variables with 6 variables which are mandatory to complete and 55 which are optional
  2. -The core data mean the data that need completion in order to consider a case for a study. It contains the 4 identifiers, 3 mandatory variables (year of birth, Original Sex Assigned, Karyotype, and disorder type) and 2 optional variables (age at presentation and actual diagnosis)
  3. -Total number of variables in the longitudinal module in the I-CAH Registry is 47
  4. n number of variables
  5. n1 number of cases
  6. n2 median number of cases per centre (range)
  7. n3 number of centres