Table 2. Hypothalamic-pituitary-testicular function of 8 boys with DAX-1 mutations.

Cases	1	2	3	4	5	6	7	8
Testicular volume, mL	12.8 yr:4.5			10 yr:213.9 yr:415.7 yr:5	11.6 yr: 4	13.6 yr:6 14.3 yr:6	15 yr:3.8 16.4 yr:5.4	15.7 yr:2 17.8 yr:3
FSH basal/peak, IU/L	2 mo:2.6/3.9 14.8 yr:<0.4/<0.4 18.8 yr:1.3/1.7	6 mo:1.9/3.3	8 d: 1.2	13 d:2 13.9 yr:3/4 16.8 yr:5 19.8 yr:1	NA	14.3 yr:2.3/3.3	13.7 yr:0.9/1.616.4 yr:1.6	15.7 yr:1.19/1.62
LH basal/peak, IU/L	2 mo:.1/614.8 yr:<0.4/<0.418.8 yr:0.1/0.3	6 mo:1.2/4.5	NA	13 d:1.1 13.9 yr:1/1 16.8 yr:4 19.8 yr:<1	NA	14.3 yr:0.78/1.7	13.7 yr:<0.4/<0.4 16.4 yr:0.6	15.7 yr:0.4/0.67
Testosterone, ng/mL	2 mo:3.714.8 yr:<0.05	29 d:1.8 6 mo:<0.05 7.1 yr:<0.02	8 d: 1.1	13 d:1.8 10 yr:<0.04 13.9 yr:0.6 15.7 yr:3 16.8 yr:4.1 17.3 yr:0.1	14 d:0.1613.4 yr:0.0513.8 yr:0.16	13.6 yr:0.114.3 yr:0.6714.7 yr:<0.07	9.7 yr:<0.0515 yr:<0.0216.4 yr:0.02	13 yr:<0.05 14.3 yr:<0.05 15.7 yr:<0.04
Inhibin B, pg/mL	17 d:259 14.8 yr:103	9 mo:250 7.5 yr:19	8 d:225 6 mo:343 2.3 yr:27	NA	11.6 yr:6513.8 yr:20	16 yr:28	9.7 yr:121 13.7 yr:95 16.4 yr:94	29.7 yr:20
AMH, pmol/L	17 d:700 14.8 yr:103	9 mo:1015 7.5 yr:252	8 d:264 6 mo:740 2.3 yr:284	NA	11.6 yr:27	NA	9.7 yr:213 13.7 yr:237	20 yr:41029.7 yr:410
Age at onset of testosterone, yr	14.8			17.3	13.8	14.7	15	15.8
DAX mutation	?	2 µdel	2 µdel	Complete deletion	µdel	µdel	Del 651	Insertion 284

Normal range: Inhibin B, pg/mL, 12 mo, 94–383, 24 mo, 71–204, 5–10 yr, <20–258, adult, 80–270; AMH, pmol/L, 10d-1 yr, 390–570, 1 yr–4 yr, 360–650, 4 yr–7 yr, 320–560, 7 yr–9 yr, 240–430, adult, 22–38.

Unilateral cryptorchidism in cases 2 and 3.