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Table 3 Definition and composition of primary classification groups for the Clinical Evaluation Study

From: Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality

Group 1. DSD-XX 2. DSD-XY-P-F 3. DSD-XY-P-M 4. DSD-XY-C-F
Definition: Girls/women with 46, XX DSD and signs of over-virilization Girls/women with 46, XY DSD and partial signs of virilization Boys/men with 46, XY DSD and signs of under-virilization Girls/women with 46-XY DSD without any signs of virilization
Karyotype XX XY+ XY+ XY+
Sex of rearing/recent gender Female Female Male Female
Androgen effects present present present none
Diagnoses contained CAH (172)
True hermaphroditism (1)
partial gonadal dysgenesis (2)
aromatase deficiency (3)
pAIS (18)
gonadal dysgenesis
(partial, mixed) (43)
disorder of androgen biosynthesis (21)
true hermaphroditism (4)
associated malformations with DSD (cloacal extrophy) (2)
penis agenesis (2)
severe hypospadia (1)
unclassified clinical diagnosis of DSD (5)
severe hypospadia (53)
gonadal dysgenesis (mixed, partial) (25)
pAIS (12)
disorders of AMH (1)
disorders of androgen biosynthesis (10)
true hermaphroditism (2)
associated malformations with DSD (cloacal extrophy) (1)
micropenis (3)
disorder of androgen syndromal disease (1)
epispadias (1)
XX-male* (3)
unclassified clinical diagnosis of DSD (9)
cAIS (23)
compl. gonadal dysgenesis (14)
gonadal dysgenesis with complete female phenotype and 45, X/46XY (1)
unclassified clinical diagnosis of DSD (1)
Age distribution:     
Infants < 6 months 8 4 10 1
6 months – 3 years 29 7 36 1
4 – 7 years 29 12 34 5
8 – 12 years 33 24 21 8
13 – 16 years 33 19 7 7
Adults 46 30 13 17
Total n 178 96 121 39
  1. + incl. mosaics with parts of „Y chromosome" (in some cases chromosome status has not been investigated, in these cases classification results according the clinical status)
  2. * despite 46, XX karyotype
  3. Excluded from group comparisons:
  4. 46, XX; CAH & male sex of rearing, n = 2
  5. 46, XX & without androgen effects (e.g. gonadal insuffiency), n = 3