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Table 1 Clinical data of CAH patients

From: Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency

Case Sex1 Age at diagnosis2 Clinical Data basal 17OHP (nmol/L) Na+/K+(mmol/L) Phenotype3
1 M 1 m 28 d vomiting, dehydration na4 129/6.2 SW
2 F 12 d ambiguous genitalia; Prader III > 20 ndm5 137/6.2 SW
3 M 2 m 24 d vomiting, dehydration 49.3 116/9.2 SW
4 F 19 d vomiting, dehydration; registered as male na 128/7.8 SW
5 M 31 d vomiting, dehydration > 20 ndm 120/5.5 SW
6 M 2 m 8 d vomiting, dehydration > 200 ndm 121/6.8 SW
7 F 10 m ambiguous genitalia; Prader III > 25 ndm 142/5.0 SV
8 F 6 d ambiguous genitalia; Prader III/IV > 200 ndm 123/7.4 SW
9 F np ambiguous genitalia; Prader IV    SW
10 M 1 yr 1 m vomiting, dehydration > 25 ndm 120/6.8 SW
11 F 6 yr 3 m precocious pubarche since 4 yr 6 m; high stature > 25 ndm nt NC
12 F 10 d ambiguous genitalia; Prader III > 20 ndm 121/6.5 SW
13 F np ambiguous genitalia; Prader III/IV; vomiting, dehydration; registered as male na na SW
14 F np ambiguous genitalia; Prader III na na SW
15 F 14 d ambiguous genitalia; Prader IV > 6 ndm 119/5.3 SW
16 M 28 d vomiting, dehydration, adrenal crysis > 200 ndm 119/9.7 SW
17 M 3 yr 5 m precocious pubarche since 2 yr > 20 ndm na SV
18 M 6 yr precocious pubarche > 20 ndm na SV
19 F 5 yr 7 m precocious pubarche, ambiguous genitalia; Prader IV 238 na SV
20 F 37 d ambiguous genitalia; Prader III > 20 ndm 136/5.7 SV
  1. 1F = Female, M = male; 2yr = years, m = months, d = days, np = neonatal period; 3SW = salt-wasting, SV = simple virilizing, NC = non-classic; 4na = not available; 5ndm = non-diluted measurements (ref value 5.97 nmol/L).