Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report

Table 1 The biochemical examinations of the patient

Projects	Results	Reference range
Potassium (mmol/L)	2.26	3.5-5.5
Renin (mIU/L)	< 0.5	2.8-39.9
Aldosterone (ng/dL)	3.69	0-23.6
Angiotension II (pg/ml)	39.1	25-129
FSH (mIU/mL)	38.97	Follicular phase: 3.03-8.08; Ovulatory phase: 2.55-16.69; Luteal phase: 0.9-16.69; Postmenopausal: 26.7-133.4
LH (mIU/mL)	14.49	Follicular phase: 1.8-11.78; Ovulatory phase: 7.59-89.08; Luteal phase: 0.56-14; Postmenopausal: 5.16-61.99
Progesterone (ng/mL)	5.5	Follicular phase: < 0.1-0.3; Luteal phase: 1.20-15.9; Postmenopausal: < 0.1-0.2
Estradiol (pg/mL)	< 10	Follicular phase: 21-251; Luteal phase: 38-649; Postmenopausal: 21-312
Testosterone (ng/dL)	0.18	Male (21-49 yr): 2.4-8.71; Female (21-49 yr): 0.14-0.53
Cortisol (nmol/L)
0 a.m.	83.46	45-135
8 a.m.	170.11	120-660
4 p.m.	106.01	55-200
ACTH (pmol/L)
0 a.m.	8.54	0.4-4.0
8 a.m.	112.85	1.5-14.1
4 p.m.	27.15	0.95-9.5
Dehydroepiandrosterone-S (μg/dL)	17.80	95-510
GH (ng/mL)	0.648	< 8
Urine cortisol for 24 h (μg/24 h)	17.33	19.30-317.50
Urinary potassium 24 h (mmol/24 h)	204.5	25-100
Karyotype	46,XY

FSH: Follicle-stimulating hormone; LH: Luteinizing hormone; ACTH: Aadreno-cortico-tropic-hormone; GH: Growth hormone.

Table 2 The imaging examinations of the patient

Projects	Results
Plain CT scan of adrenal	Bilateral multiple adrenal lesions were considered to be multiple myeloid lipomas or diffuse adrenal hyperplasia
Enhanced CT scan of adrenal	Bilateral multiple adrenal lesions were considered to be multiple myeloid lipomas
Plain MRI scan of pituitary gland	Normal
X-ray examination of both hands	The epiphyses of the fingers, metacarpal and distal ulna and radius of both hands were not healed
Ultrasonography of the pelvis	No obvious uterine echo was observed
Plain MRI scan of the pelvis	No obvious cryptorchidism and uterine accessory tissues were observed

CT: Computed tomography; MRI: Magnetic resonance imaging.