17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports

Table 2 Clinical and biochemical characteristics of the patients

Patients	Age in yr	Height in cm	Blood pressure in mmHg	Blood potassium in mmoL/L	FSH in IU/L	P in nmoL/L	T in nmoL/L	E2 in pmoL/L	LH in IU/L	PRA in pg/mL/h	DHEAS in mg/dL	ACTH (8 AM) in pg/mL	COR (8 AM) in nmoL/L
Case 1	16	163	154/133	3.06	42.40	1.87	0.60	149.63	24.01	NA	NA	47.1	61.82
Case 2	27	168	124/90	2.36	119.00	20.40	0.69	151.00	46.60	NA	< 35	67.6	64.80
Case 3	16	155	110/70	3.55	83.75	8.94	0.01	19.00	10.38	12.50	< 35	46.2	7.43

Reference range: Blood potassium: 3.50-5.50 mmoL/L; FSH: 1.27-19.26 IU/L (Male), 1.00-11.30 IU/L (Female); P: 0.44-6.55 nmoL/L (Male), 1.00-3.80 nmoL/L (Female); T: 6.07-27.10 nmoL/L (Male), 0.00-2.65 nmoL/L (Female); E₂: 0.00-206.00 pmoL/L (Male), 124.00-1468.00 pmoL/L (Female); LH: 1.24-8.62 IU/L (Male), 1.10-11.60 IU/L (Female); PRA: 50-790 pg/mL/h; DHEAS: 35-430 μg/dL; ACTH (8AM): 6-56.7 pg/mL; COR (8AM): 184.85-623.53 nmoL/L. ACTH: Adrenocorticotropic hormone; COR: Cortisol; DHEAS: Dehydroepiandrosterone; E₂: Estradiol; FSH: Follicle-stimulating hormone; LH: Luteinizing hormone; NA: Not available; P: Progesterone; PRA: Plasma renin activity; T: Testosterone.