Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report

Figures & data

Figure 1. CT and MRI test for patient. (A) Enhanced CT of the patient’s abdomen, right adrenal hyperplasia by the black arrow, left adrenal hyperplasia by the white arrow; (B) Rabat; (C) Patient’s head MRI and hyperplastic pituitary by the white arrow. (D) Left-hand flat piece and bone age

Table 1. Congenital adrenal hyperplasia test.

Index	Before DXM	After DXM 3 days	After DXM 5 days	After DXM 3 months	After DXM 1 year	Reference range
Urine 17-OHCS(mg/L)	8.26	3.57	3.62		4.10	—
24 urine 17-OHCS(mg/d)	12.39	8.93	6.52	13.12	9.02	2.0–10.0
17-KS(mg/L)	5.71	4.02	7.34		1.37	—
24h urine 17-KS(mg/d)	8.56	10.05	13.21	0.9	3.01	6.0–25.0
Urine volume(L)	1.50	2.50	1.80	1.0	2.2	—
17-αOHP(ng/mL)	0.56	0.15	0.08	0.29	<0.04	0.05–2.34
Cor8Am(ug/dL)	<1.00	<1.00	—	1.26	0.37	5–25
ACTH 8Am(pg/ml)	71.80	<5.00	——	29.10	2.54	10–46

DXM: dexamethasone; 17-OHCS: 17-hydroxycorticosteroid; 17-αOHP: 17-α-hydoxy progesterone; Cor: .Cortisol; ACTH: adreno-cortico-tropic-hormone.

Figure 2. CYP17A1 sequencing and genetic map of Patient’s family. (A) Sequencing results of CYP17A1 of the patient, the patient’s mother, the patient’s father and the patient’s brother from top to bottom. The patient had a homozygous mutation of c.987del, while her parents and elder brother all had heterozygous mutations of c.987del; (B) Patient’s genetic map of 17α-OHD.

Data availability statement

All data generated or analyzed during this study are included in this published article.