Table 1.

Clinical data of 30 children with NR5A1 mutations ID.

	Height (SDS)	PG	TP	Basal						P-hCG	AMH	INHB	Family History
				LH (mIU/ml)	FSH (mIU/ml)	T (ng/dl)	LH/FSH	ACTH (pg/ml)	Cor (ug/dl)	T (ng/dl)
1	−0.33	3	2	0.1	2.62	<20	0.04	27	9.1	183.7	23	83	N
2	0.19	2	2	0.07	1.94	10.08	0.04	12	7.2	300			N
3	−1.12	2	2	6.51	31.9	99.1	0.2	14	8.5	526			N
4	0.67	3	3	2.33	9.88	<20	0.24	15	7	120			N
5	−1.43	3	2	0.42	1.04	<20	0.4	24	9.8	231	1.43	32.5	N
6	−2.48	2	2	0.21	3.17	<20	0.07	42	11.8	168	23	99	N
7	−1.9	4	2	19.2	67	289	0.29	27	8.5	N/A			N
8	−0.22	3	2	0.22	4	<20	0.06	23	10.2	101			N
9	1.24	2	1	14.2	66	130	0.22	22	7.3	147			N
10	0.37	0	2	1.43	9.08	<20.0	0.16	24	11	219			N
11	0.31	4	2	4.25	22.2	121	0.19	23	9.6	632			N
12	−1.49	1	2	2.76	36.1	71.8	0.08	15	14.2	469	2.19	20.18	N
13	−0.33	2	2	0.1	2.13	<20	0.05	25	8.3	<20	7.89	33.6	N
14	0.11	0	3	3.67	30.1	86	0.12	18	8	579	23	59	N
15	−0.33	2	2	0.07	1.94	10.08	0.04	20	10.1	197	23	57.2	N
16	0.73	3	1	14.5	49.2	171	0.29	21	12.7	N/A	1.73	2.46	46, XX POI
17	0.31	2	2	3.95	28.4	209	0.14	18	16.5	N/A			N
18	−0.6	4	4	22.24	46.43	123.5	0.48	29	9.1	N/A	0.19	7.56	46, XX POI + 46, XX DSD
19	−0.93	2	2	4	23.4	100	0.17	34	6.9	N/A			N
20	0.75	3	4	0.46	2.83	61	0.16	11	5	595	23	88	N
21	−1.5	5	2	0.1	1.3	20	0.08	18	13	164	10.96	89.2	N
22	−1.21	4	2	3.54	17.2	81.5	0.21	19	8	N/A			N
23	−2.27	3	4	N/A	N/A	N/A	–	13	11.2	N/A			N
24	0.37	3	4	2.87	17.6	141	0.16	20	5.2	312			N
25	−0.68	3	3	0.1	3.2	<20	0.31	14	6.5	<20	23	39.3	N
26	−0.87	3	2	1.23	2.38	116	0.52	33	15.8	274	23	21.5	N
27	0.95	3	4	0.83	1.7	20	0.49	19	14.8	157	6.09	52.65	N
28	0.03	4	4	1.24	1.46	20	0.85	17	6.9	321	23	188.5	N
29	−0.1	3	4	0.16	9.27	20	0.02	14	5.6	420	23	260	N
30	−1.12	4	4	3.81	5.92	253	0.64	24	9.7	N/A	3.31	231.9	N