Table 3.

Hormonal Status

Patient	Age (years)	Mutation	Hormonal levels
			Basal FSH IU/L [1.5-12]	FSH at the peak (after GnRH stimulation) [1.5–2 × basal]	Basal LH IUI/L [1.5-8.5]	LH at the peak (after GnRH stimulation) [3-4 × basal]	Basal total testosterone nmol/L [10.4-41.6]	Testosterone/LH (nMol / IU)	PRL mIU/L [86-324]	Leptin (µg/L)
1	22	BBS1: c.[479G>A];[479G>A], p.[Arg160Gln];[Arg160Gln]	2.42	4.65	4.71	29.3	16.3	3.46	239	21.2
2	25	BBS1: c.[1169T>G];[1169T>G], p.[Met390Arg];[Met390Arg]	2.67	5.02	2.94	20.8	not performed		not performed	8.83
3	24	BBS1: c.[1169T>G];[1169T>G], p.[Met390Arg];[Met390Arg]	5.37	7.15	3.21	15.7	17.7	5.51	176	not performed
4	36	BBS1: c.[382C>T];[382C>T], p.[Gln128*];[Gln128*]	not performed	not performed	not performed	not performed	not performed		not performed	not performed
5	24	BBS5: c.[413G>C];[413G>C], p.[Arg138Pro];[Arg138Pro]	3.26	5.94	3.64	20.6	13.8	3.79	134	12.6
6	35	BBS10: c.[271dup];[963T>G], p.[Cys91Leufs*5];[Tyr321*]	2.08	3.69	3.38	12.5	12.8	3.77	106	not performed
7	38	BBS1: c.[1169T>G]; [1214_1215ins[MT113356], p.[Met390Arg];[Ala406Glnfs*47].	3.51	6.37	4.11	26.9	11.1	2.70	94.7	4.78
8*	22	BBS1: c.[1169T>G];[1169T>G], p.[Met390Arg];[Met390Arg]	0.85	not performed	0.71	not performed	18.7*	Not applicable	295	19.8
9	26	BBS9: c.[703-?_886+?del];[832C>T], p.[Val235Phefs*6];[Arg278*]	1.56	3.16	1.66	12	6.9	4.15	normal	50.4
10	18	BBS3: c.[535G>A];[535G>A], p.[Asp179Asn];[Asp179Asn]	2.84	8.46	3.57	51.8	8.6	2.4	72.1	not performed
11	39	BBS12: c.[1037T>C];[1037T>C], p.[Ile346Thr];[Ile346Thr]	9.41	20.5	7.02	43	11.1	1.58	209	not performed

*Patient 8 undergoing testosterone therapy