Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia

Table 1 Clinical characteristics of 5 patients with rare types of CAH

Types	Genes	Variants	Inheritance	Pathogenicity	First visit (years)	Complaint	Adrenocortical function*
LCAH	StAR	(1) c.650 + 2 T > A #, c.814C > T (p. R272C); (2)c.707_708delAGinsCTT (p.K236Tfs), c.772C > T (p.Q258*)	(1) Paternal, Maternal; (2) Paternal, Maternal	(1) LP, LP; (2) P, LP	Neonatal	cyanosis and skin pigmentation throughout the body	17OHP ↓/N, A4 ↓, DHEAS N, F ↓/N, ACTH ↑↑
11β-OHD	CYP11B1	c.422G > A(p.R141*), c.1145 T > C(p.L382P) #	Maternal, Paternal	LP, VUS	3.5	enlarged penis for 3 years	17OHP ↑, A4 ↑↑, DHEAS ↑, T ↑, F N, ACTH ↑
3β-HSD deficiency	HSD3B2	c.674 T > A(p.V225D), c.776C > T(p.T259M),	Maternal, Paternal	P, P	9	enlarged testicles for 5 years	17OHP ↑, A4 ↑↑, DHEAS ↑↑, T ↑, F ↓, ACTH ↑↑
PORD	POR	c.1622C > T(p.A541V) #, c.1804C > T(p.Q602*) #	Maternal, Paternal	LP, LP	2	external genital abnormalities for more than 1 year	17OHP ↑, A4 ↓↓, T ↓, F N, ACTH ↓

Note: *See Supplementary Table 2 for details. # novel variants haven’t been reported before; P pathogenic; LP likely pathogenic; VUS variant of uncertain significance; 17OHP 17α-hydroxyprogesterone; A4 androstenedione; T testosterone; DHEAS dehydroepiandrosterone sulfate; ACTH adrenocorticotropic hormone; F cortisol; ↑, increase; ↓, decrease; ↑↑ or ↓↓, beyond the limits of detection; N, normal

ISSN: 1472-6823