Table 1 Clinical and molecular characteristics of 10 patients with congenital lipoid adrenal hyperplasia who were subjected to haplotype analysis.
No. | Karyotype | Age at onset | Gestational age (weeks) | Birth weight (kg) | Clinical findings | Laboratory findings | Mutations in STAR | ||
|---|---|---|---|---|---|---|---|---|---|
ACTH (pg/mL) | Na/K/Cl (mmol/L) | Allele 1 | Allele 2 | ||||||
1 | 46,XX | 18 d | 41 + 4 | 3.4 | Vomiting, lethargy, hyperpigmentation | 383.4 | 120/8.1/109 | c.772C>T (p.Q258*) | c.772C>T (p.Q258*) |
2 | 46,XY | 1 month | 38 + 5 | 3.1 | Hyperpigmentation, poor oral feeding | 16580 | 138/4.4/108 | c.772C>T (p.Q258*) | c.772C>T (p.Q258*) |
3 | 46,XY | 9 d | 38 + 4 | 2.7 | Hypoglycemia, hyperpigmentation | 6300.0 | 126/6.6/97 | c.772C>T (p.Q258*) | c.772C>T (p.Q258*) |
4 | 46,XX | 7 d | 38 | 2.6 | Feeding intolerance, hyperpigmentation | 1059.0 | 117/4.0/87 | c.772C>T (p.Q258*) | c.772C>T (p.Q258*) |
5 | 46,XX | 33 months | 41 | 3.1 | Hyperpigmentation | 8600.0 | 136/4.7/107 | c.772C>T (p.Q258*) | c.559G>A (p.V187M) |
6 | 46,XY | 9 d | 38 + 1 | 3.3 | Hyperpigmentation, vomiting, lethargy | 1340.0 | 104/9.1/77 | c.772C>T (p.Q258*) | c.772C>T (p.Q258*) |
7 | 46,XX | 5 d | 28 | 1.1 | Hyponatremia, dyspnea | 1854.4 | 125/4.7/77 | c.772C>T (p.Q258*) | c.772C>T (p.Q258*) |
8 | 46,XX | 15 d | 42 | 3.1 | Lethargy, vomiting | 2638.0 | 117/9.2/98 | c.772C>T (p.Q258*) | c.772C>T (p.Q258*) |
9 | 46,XX | 29 months | 40 | 3.8 | Hyperpigmentation | >2000 | 137/4.2/99 | c.772C>T (p.Q258*) | c.815G>A (p.R272H) |
10 | 46,XX | 5 d | 30 + 1 | 1.8 | Hyperpigmentation, tachypnea, cyanosis | 617 | 127/7.2/93 | c.772C>T (p.Q258*) | c.407delA (p.E136Gfs*50) |