At the age of 3 days, they were screened for hormonal abnormalities: their tests showed markedly elevated 17OHP levels (86 ng/mL n.v. 10 ng/mL), ACTH 250 pg/mL (n.v. 8–53), cortisol 42 µg/L (n.v. 60–230), and DHEAS 1970 mcg/L (560–2360). Testosterone and delta4androstenedione (delta4A) were 1.3 ng/mL (n.v. Patient n.2 was the older brother of patient n.1. At the time of clinical and biochemical screening, they were 2.5 years old. They were a full-term newborn (gestational age = 40 weeks), born after an uneventful pregnancy by vaginal delivery.
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