X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

Table 1

The patient’s urinary steroid profile by gas chromatography/mass spectrometry (GC/MS) (values 0.0 < the sensitivity of the method).

Compound name	Result (μg/d)	Normal range
AN	2.6	1–10
ET	0.6	1–5
11-OAN/ET	1.1	5–20
11-OAN	1.1	5–20
11-OHET	0.0
DHA^1	0.0	1–10
5-AND^1	0.0
16a-OHDHA^1	0.7	135–500
An-3-ol^1	0.0	40–600
5-PT^′1	0.0	2–20
16-OHPN^′1	0.0	110–495
17-OHPN (5b)	0.6	4–19
17-OHPN (5a)	0.0
PT	0.5	5–21
PTN	0.0	0–5
PD	0.4	2–20
E1	0.0
E2	0.0
E3	0.0
THS	6.1↑	1–3
THDOC	0.0
THA	0.0	5–30
THB	0.0
Allo-THB	0.0
18-OHTHA	0.0
THAldo^2	1.8↓	4.3–12.3
18-Oxo-THF	0.0
18-OHF	0.0
THE^3	73.3	38–408
THF^3	0.0
Allo-THF^3	0.0
a-CTN^3	1.1	20–100
b-CTN^3	15.0	20–100
b-CT^3	0.0	5–20
a-CT^3	0.0	5–20
E^3	10.1	5–20
F^3	0.0↓	3–20
6b-OHF^3	0.0
20a-DHF^3	0.0

Foetal adrenal steroid metabolites.
²Aldosterone metabolite.
³Cortisol metabolites.