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

Table 1 Clinical characteristics of the patients

Patients	Consanguineous	Hypertension and hypokalemia	Female (46, XX) primary amenorrhea and undeveloped secondary sex characteristics	Male (46, XY) feminization of the genitalia	Skin pigmentation	Bone age delay	Bone mineral density was below that of normal peers	CT indicated adrenal hyperplasia
Case 1	No	Both	--	Yes	No	Yes	Yes	Yes
Case 2	Yes	Hypokalemia only	--	Yes	No	Yes	Yes	Unknown
Case 3	Unknown	No	Yes	--	Yes	Yes	Yes	Yes
Yang et al[17], 2006	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown
Liang et al[18], 2008	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown
Wei et al[19], 2018	Unknown	Hypertension only	--	Yes	Yes	Yes	Unknown	Unknown
Papi et al[20], 2018	Unknown	Both	--	Yes	Unknown	Yes	Yes	Yes
Sun et al[21], 2017	Unknown	Both	Yes	--	Unknown	Unknown	Unknown	Unknown

CT: Computed tomography.

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.