A newborn boy was diagnosed with CAH via the 2010 implemented NSP in Bulgaria. The 17-OH-progesterone (17-OHP) from the 1st filter paper card (FPC) was 44.6 nmol/l, from the 2nd FPC 80 nmol/l. The examination on day 15th revealed as `only` sign slight hyperpigmentation of the scrotum. The screening suspicion `classical CAH` was confirmed by the increased serum levels of 17-OHP (normal electrolytes) and treatment with hydrocortisone was started. The MLPA analysis revealed a hemizygous del3-4, c.622T>A; p.I173N. Family history: 2nd son of relatively short parents - mother`s height - 152 cm (SDSh = -2.12), father`s height - 164 cm (SDSh= -1.96), MPH- 158 cm, SDS MPH= -2.54. The height of his older brother is 157 cm (SDSh= -3.01), while his target height of 164.5 cm (SDSh= -1.88) was markedly above the actual height. At 7 years he had initial pubarche and was the tallest boy in his class. He was taller than the average for his age until 12 years then he stopped growing. The older boy was also brought to a pediatric endocrinologist at 17 years of age. Elevated levels of 17-OHP in the serum >60 nmol/l (157.4) and on FPC:>285 nmol/l (537), together with the genetically verified CAH in the younger brother lead to the diagnosis `simple virilizing 21 OHD`, so treatment with hydrocortisone was started.
Conclusion: Some of the simple virilizing forms of CAH may remain unrecognized, esp. in `index-families`. The newly implemented CAH NSP represents a useful diagnostic tool also in such cases. Ultrasound of the adrenals and testes for testicular rest tumors is important initially and during follow up.
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