Table 1 A detailed genotype/phenotype correlation analysis regarding the patients with the classic SW and the SV form of CAH. All patients underwent genetic testing at the accredited with ISO 15189 MGFT department of the CING
| Â | Pathogenic Variants in the CYP21A2 gene | 21-Hydroxylase Form | Sex | Age at diagnosis | Clinical Diagnosis | Basal 17-OHP nmol/lt | Hyponatremia -Hyperkalemia |
|---|---|---|---|---|---|---|---|
1 | p.Pro30Leu/p.Pro30Leu | Simple Virizing | F | 6.5 yrs | Clitoromegaly – Premature pubarche | > 25 ng/ml | Negative |
2 | IVS2-13A/C > G/IVS2-13A/C > G | Salt Wasting | F | Neonate | Prader 3 | > 25 ng/ml | Positive |
3 | IVS2-13A/C > G/IVS2-13A/C > G | Salt Wasting | F | Neonate | Prader 3 | > 25 ng/ml | Positive |
4 | IVS2-13A/C > G/IVS2-13A/C > G | Salt Wasting | M | Neonate | Adrenal crisis | > 25 ng/ml | Positive |
5 | IVS2-13A/C > G/IVS2-13A/C > G | Salt Wasting | M | Neonate | Adrenal crisis | > 25 ng/ml | Positive |
6 | IVS2-13A/C > G/IVS2-13A/C > G | Simple Virizing | M | 5.5 yrs | GnRH independent—Precocious puberty | > 25 ng/ml | Negative |
7 | CH1/CH4 | Simple Virizing | M | 6.5 yrs | GnRH independent—Precocious puberty | > 25 ng/ml | Negative |
8 | IVS2-13A/C > G/CH1 | Salt Wasting | M | Neonate | Adrenal crisis | > 25 ng/ml | Positive |
9 | IVS2-13A/C > G/CAH-X CH1 | Salt Wasting | F | Neonate | Ambiguous genitalia -Prader 5 | > 25 ng/ml | Positive |
10 | IVS2-13A/C > G/p.Gln318stop | Salt Wasting | F | Neonate | Ambiguous genitalia | > 25 ng/ml | Positive |
11 | p.Phe306insT + p.Val281Leu/p.Phe306insT + p.Val281Leu | Salt Wasting | F | Neonate | Prader 4 | > 25 ng/ml | Positive |
12 | CAH-X CH1/CAH-X CH1 | Salt Wasting | M | Neonate | Adrenal crisis | > 25 ng/ml | Positive |
13 | CH1/CH1 | Salt Wasting | M | Neonate | Adrenal crisis | > 25 ng/ml | Positive |
14 | CH1/p.Gln318stop | Salt Wasting | M | Neonate | Adrenal crisis | > 25 ng/ml | Positive |
15 | p.Ile172Asn/CAH-X CH3 | Simple Virizing (SV) | M | Neonate | Ambiguous genitalia | > 25 ng/ml | Negative |
16 | p.Ile172Asn/p.Ile172Asn | Simple Virizing | F | 4.5 yrs | Ambiguous genitalia | > 25 ng/ml | Negative |
17 | p.Ile172Asn/p.Ile172Asn | Simple Virizing | M | 5.0 yrs | Ambiguous genitalia | > 25 ng/ml | Negative |
18 | p.Ile172Asn/p.Ile172Asn | Simple Virizing | M | 3.2 yrs | Ambiguous genitalia | > 25 ng/ml | Negative |