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