46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis

Table 1

Results of biochemical and endocrine tests in the patient reported, before and after the administration of estradiol and glucocorticoid therapy.

Lab test	Results		Normal range
	Before treatment	After therapy
TSH (mcIU/ml)	2.4	NA	0.35–4
ACTH (pg/ml)	655.7	19.3	4.3–52
Active renin (mcIU/ml)	<0.5	<0.5	4.4–46.1
Aldosterone (pg/ml)	23.1	26	30–150
24-h urinary cortisol (mcg/24 h)	60	304	58–403
FSH (mIU/ml)	40.8	0.8	1.5–12.4
LH (mIU/ml)	23.7	0.7	1.8–12
Estradiol (pg/ml)	<10	NA	10–40
DHEA-S (mcg/ml)	0.04	0.05	0.48–2.44
Progesterone (ng/ml)	6.5	NA	0.2–1.4
17-OH-progesterone (ng/ml)	0.2	NA	0.2–1.3
Androstenedione (ng/dl)	<10	<10	85–275
Testosterone (ng/ml)	<0.1	<0.1	2.4–9.5
pH (venous sample)	7.56	7.4	7.37–7.45
Na+ (mEq/L)	140	136	136–146
K+ (mEq/L)	2.1	4.1	3.5–5.3

ACTH = adrenocorticotrophic hormone; DHEA-S = dehydroepiandrosterone sulfate; FSH = follicle-stimulating hormone; LH = luteinizing hormone; NA = not available; TSH = thyroid stimulating hormone.