Table 1.

Phenotypic and genotypic characterization of normosmic IHH patients carrying GNRHR mutations

	Sex	Age	Phenotype	Familial history	Breast (Tanner)	Testes (cm)	Ovarian (ml)	Penile Length	LH (U/L)		FSH (U/L)		T (ng/dl)	E (pg/ml)	Mutation
									Basal	Peak	Basal	Peak
1 *	F	18	Complete IHH	Affected cousins	I	-	3	-	3.6	5.1	2.6	2.9	-	11	p.[R139H; R139H]
2	M	19	Complete IHH	Consanguineous family, one 4 yr- old nephew with micropenis	I	1.0×1.0	-	4.0 × 1.0	<0.6	<0.6	<1	<1	33	-	p.[R139H;R139H]
3	M	38	Complete IHH	Consanguineous parents, 2 affected brothers	I	1.0×0.5	-	7.5×1.5	0.3	-	-	1.5	30	-	p.[R139H; R139H]
4	M	18	Partial IHH Reversal	no	I	1.5×0.9	-	3.5×1.5	0.9	-	2.6	-	30	-	p.[R139H]; [Q106R]
5	F	16	Complete IHH	Consanguineous parents, one affected sister	I	-	1.5	-	<0.6	1.7	<1	2.4	-	<13	p.[C200Y; C200Y]
6 *	F	19	Partial IHH	Two affected brothers and one affected sister with partial IHH	III	-	1.3×1.0 ×0.9	-	9	46	8.5	27	-	<50	p.[N10K;Q11K]; [Q106R]
7	M	16	Complete IHH	no	I	1.5×1.0	-	7×2	0.17	-	0.7	-	20	-	p.[N10K;Q11K]; [Y283H]
8	M	17	Partial IHH	no	III	2.6×1.5	-	8×2	2.5	-	<1	-	58	-	p.[V134G]; [R262Q]
9	M	17	Complete IHH	no	I	1.5×1.0	-	5	0.3	-	0.7	-	110	-	p.[V134G]; [Q106R]
10	M	26	Partial IHH Reversal	no, Consanguineous parents	I	2.8×1.6	-	4	0.95	-	1.86	-	-	-	p.[Q106R;Q106R]
11	M	18	Complete IHH	One sister with complete IHH, Consanguineous parents	I	2.0×1.5	-	10×2.7	-	-	-	-	-	-	p.[Y284C;Y284C]

^*Patients previously described in Costa et al. (10)

F: female; M: male; LH: Luteinizing hormone; FSH: Follicle-stimulating hormone; T: testosterone; E2: estradiol; -: not available. The immunofluorometric method was used in all hormonal analyses except for patients 1 and 6, in whom radioimmunoassays were used. Complete IHH refers to the complete absence of sexual development, whereas incomplete IHH indicates partial pubertal development. Testis size is given when available (normal, 15–25 ml). Breast development is given when available—Tanner 1 indicates no breast buds.