Table 1. Clinical and biological data of 8 boys with DAX-1 mutations.

Cases	1	2	3	4	5	6	7	8
Origin	France	Morocco	Morocco	France	Martinique/Guadeloupe	Martinique/Guadeloupe	France/India	Spain/Guinea
Age of onset	neonate	neonate	neonate	neonate	neonate	6 mo	1.3 yr	8.7 yr
Age of diagnosis	neonate	neonate	neonate	neonate	neonate	3.5 yr	1.5 yr	8.7 yr
First symptoms	vomiting	vomiting,melanodermia	systematic screening	vomiting, hypothermia	vomiting	vomiting, seizures	vomiting, seizures	vomiting, abdominal pain, seizures, melanodermia
Glucose, mmol/L	3.6	3.3	2.3	NA	NA	2.8	3.5	2.9
ACTH, pg/mL	242	1500	1850	120	980	4000	11649	405
Cortisol, ng/mL	100	43	45	28	166	98	99	225
Sodium, mmol/L	129	129	138	116	121	119	119	134
Potassium, mmol/L	7	5.5	4.3	9.6	6.8	5.7	5.2	5.8
Renin, pg/mL	90	480	173.5	NA	NA	NA	NA	675
Plasma renin activity, ng/mL/h	NA	NA	NA	>100	70	48	23	NA
Aldosterone, pg/mL	NA	7.5	NA	30	74	NA	36	42
Age of last evaluation, yr	18.8	7.1	2	17.3	18.8	21.3	16.4	29.7
Adult height, cm	169.5			173	167.5	177.5		177
Target height, cm	175	178.5	178.5	181.5	180	NA	174	177.5

Normal Range: Renin, 3–16 pg/mL; Plasma Renin Activity, 0.2–2.80 ng/mL/h and 0.8–8.9 ng/mL/h during the first year of life; Aldosterone: 42–201 pg/mL.

Case 1 has maternal uncle with DAX1 mutation and azoospermia. Case 7 has maternal cousin with DAX1 mutation.

Cases 2 and 3, and 5 and 6 are brothers.

Intra-uterin growth retardation in cases 4 and 7.