An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

Table 1

Biochemical analyses of the CAH patient blood

Parameters (unit)		Measured values in the patient	Reference values [13]
Serum	Blood sugar (mg/dL)	81	<140
	Sodium (mmol/L)	138	135–146
	Potassium (mmol/L)	4.4	4.1–5.3
Plasma	ACTH (pg/mL)	624.6	7.2–63
	Renin supine (mcIU/mL)	140	4.2–59.7
Serum	17-Hydroxy progesterone c (pmol/L)	8.6	0.2–2.9
	Testosterone (ng/ml)	3.1	0.12–0.2
	DHEA sulfate (UMOL/L)	17.8	0–6.7
	Androstenedione (ng/mL)	0.05	0.08–2.5
	Cortisol (µg/dL)	5.3	3.7–19.4