Table 3 Clinical features of uncharacterized PAI patients
From: Genetic aetiology of primary adrenal insufficiency in Chinese children
Proband (Sex) | Age (years) | Gene variants | Electrolyte | Adrenal CT imaging | Main clinical presentation | |||
|---|---|---|---|---|---|---|---|---|
ACTH (pg/ml) | Cortisol (baseline /peak) (µg/dl) | 17-OHP (ng/ml) | K+/ Na+ (mmol/l) | |||||
Case 1 (Male) | 5.2 | ABCD1 NC_000023.1: g.153005609; NM_000033.4: c.1552 C > T, reference protein NP_000024: p.R518W (rs128624224) X-link |  > 1250 | 1.46/1.58 | 0.16 | 4.1/140 | Normal | pigmentation, alacrima, epilepsy, consanguineous parents |
Case 2 (Male) | 0.1 | IL1RAP-NR0B1-GK Microdeletion of Xp21.2–21.3(2.6 Mb) Hom |  > 1250 | 4.83/ND | 3.37 | 6.2/130 | Undetectable | Pigmentation, mineralocorticoid deficiency, adrenal crisis, abnormal liver function, elevated triglyceride, hypothyroidism, cryptorchidism |
Case 3 (Male) | 3.7 | NR0B1 NC_000023.1: g.30327157–30,327,156 CG > GA; NM_000475.5:c.323–324 CG > GA, reference protein NP_000466: p. S108X X-link, novel |  > 1250 | 4.00/4.09 | 0.06 | 5.4/122 | Undetectable | Pigmentation, mineralocorticoid deficiency, adrenal crisis, abdominal lymphadenectasis |
Case 4 (Male) | 9.8 | NR0B1 NC_000023.1: g.30322873–30,322,876 delCTCA; NM_000475.5: c.1231_1234delCTCA, reference protein NP_000466: p.L411Vfs*6 X-link, de novel |  > 1250 | 1.75/2.17 | 0.16 | 5.6/125 | Tiny adrenal glands | Pigmentation, mineralocorticoid deficiency |
Case 5 (Male) | 8.4 | AAAS NC_000012.1: g.53709118G > A; NM_015665.6: c.399 + 1G > A, reference protein: NP_056480: p.? Hom, novel | 710.00 | 0.15/ND | 0.01 | 4.2/144 | Normal | Pigmentation, alacrima, achalasia, consanguineous parents |
Case 6 (Female) | 5.5 | AAAS NC_000012.1: g.53714350delT; NM_015665.6: c.250delT, reference protein NP_056480: p.W84Gfs*10 Hom, novel |  > 1250 | 1.00/ND | 0.03 | 4.4/142 | Normal | Pigmentation, alacrima, epilepsy, consanguineous parents |
Case 7 (Female) | 3.2 | AAAS NC_000012.1; g.53714350delT; NM_015665.6, c.250delT, reference protein NP_056480: p.W84Gfs*10 Hom, novel |  > 1250 | 1.00/ND | 0.01 | 3.4/135 | Normal | Pigmentation, alacrima, consanguineous parents |
Case 8 (Male) | 1.9 | NNT NC_000005.1: g.43656054delT; NM_182977.3:c.2274delT, reference protein NP_036475: p.I758Mfs*10 Hom, novel | 482.1 | 0.27/ND | 0.03 | 5.3/136.3 | Normal | Pigmentation |
Case 9 (Male) | 0.2 | – | 313 | 2.42/3.22 | 0.19 | 4.5/134 | Normal | Pigmentation, low hypophysis |
Case 10 (Male) | 5.0 | – | 241 | 9.21/11.10 | 0.11 | 4.0/141 | Tiny adrenal glands | Pigmentation, microphallus, short stature, microcephaly, hepatomegaly, splenomegaly |
Case 11 (Male) | 2.2 | – | 250 | 14.64/16.53 | 0.40 | 3.9/134 | Normal | Pigmentation |