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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
  1. 17-OHP 17-hydroxyprogesterone, ACTH adrenocorticotrophic hormone, TES testosterone, DHEAS dehydroepiandrosterone, ND not done. Normal ranges ACTH < 46 pg/ml, cortisol 5–25 µg/dl, 17-OHP1 month-1 year 1.06–40.41 ng/ml, 1–13 years 0.07–1.53 ng/ml, TES female 0–31 ng/dl, male 0–6 years 3–32 ng/dl, 7–12 years 3–68 ng/dl, DHEAS 35–430 µg/dl