Table 1.

Clinical data, hormone profile and sex determining region Y of 180 patients

References	Age (years)	Weight (kg)	Height (cm)	FSH (mIU/mL)	LH (mIU/mL)	TT (ng/mL)	E2 (pg/mL)	PRL (ng/mL)	HD	GM	PS	TV	SRY presence/location
Valetto et al., 2005[16]	35	48	152	23.9	17.7	3.06	NK	7.13	N	−	N	NK	-
Rigola et al., 2002[17]	33	NK	NK	NK	NK	NK	NK	NK	N	−	N	NK	+/Xp
Dauwerse et al., 2006[9]	61	NK	171	13	10	3.25	31.3	NK	NK	−	N	S	+/16q
Ryan and Akbar, 2013[18]	40	NK	NK	1	NK	NK	10	NK	P	−	S	NK	-
Wegner and Nürnberger, 1983[19]	35	81	167	23.7	37.1	6.30	NK	3.8	N	−	N	NK	+/Xp
Pais and Vasudevan, 1977[20]	29	82	170	53	45	2.67	NK	NK	N	+	S	NK	+/Xp
Zakharia and Krauss, 1990[21]	28	65	165	72	61	2.40	NK	16.3	NK	+	N	NK	NK
Pepene et al., 2008[22]	28	65	167	43.9	25.3	3.33	NK	NK	N	+	N	S	+/Xp
Hado et al., 2003[23]	76	NK	157	27.8	21	2.59	NK	NK	N	+	NK	NK	+/Xp
Xiao et al., 2013[24]	27	NK	170	47	18.7	1.80	NK	14.6	NK	NK	S	NK	-
Butler et al., 1983[25]	31	72	169	51	NK	4.77	NK	NK	N	+	N	NK	+/Xp
Yencilek and Baykal, 2005[26]	26	72	165	45.6	48.9	2.70	NK	9.4	N	−	S	NK	NK
Mustafa and Mehmet, 2010[27]	30	75	170	NK	40.7	2.11	16.6	8.5	N	+	N	NK	-
Matthews et al., 1983[28]	27	68	166	46	19	2.82	33	9.87	P	−	NK	NK	+/Xp
Tomomasa et al., 1999[29]	25	55	177	19.7	10.3	4.28	NK	NK	N	−	NK	S	+/Xp
Chernykh et al., 2009[30]	37	74	160	26.9	13.5	2.90	NK	NK	P	+	NK	NK	+/Xp
Castiñeyra et al., 2002[31]	28	NK	180	50	16	3.00	28	14	N	+	NK	NK	+/Xp
Castiñeyra et al., 2002[31]	35	NK	170	3.5	6.2	7.00	38	3.4	N	NK	NK	S	+/Xp
Castiñeyra et al., 2002[31]	28	NK	160	21	5.2	1.40	19	8.1	P	NK	NK	NK	+/Xp
Castiñeyra et al., 2002[31]	39	NK	174	6.7	4.2	5.60	30	6.2	P	NK	NK	NK	+/Xp
Castiñeyra et al., 2002[31]	24	NK	172	45	40	3.00	20	5.4	N	NK	NK	NK	+/Xp
Chiang et al., 2013[32]	33	NK	NK	46.5	17.6	2.03	NK	27.05	NK	NK	NK	NK	+/Xp
Chiang et al., 2013[32]	34	NK	NK	54.3	19.6	2.17	NK	8.15	NK	NK	NK	NK	+/Xp
Chiang et al., 2013[32]	52	NK	NK	64.3	20.2	1.44	NK	16.08	NK	NK	S	NK	-
Rajender et al., 2006[33]	34	64	156	25.8	15.8	5.8	NK	NK	N	−	N	NK	-
Tan and Khalid, 1993[34]	32	NK	176	21	34	2.63	25	NK	N	+	S	NK	NK
Mićić et al., 1983[35]	25	63	171	31	18	3.19	47	6.8	P	−	NK	NK	NK
Wu et al., 2014[36]	NK	NK	165	35.5	13.8	1.95	30.5	4.6	NK	NK	NK	NK	+/Xp
Wu et al., 2014[36]	NK	NK	162	29.2	12.9	1.55	19.1	3.6	NK	NK	NK	NK	+/Xp
Wu et al., 2014[36]	NK	NK	164	45.9	25.1	2.56	26.7	7.8	NK	NK	NK	NK	+/Xp
Wu et al., 2014[36]	NK	NK	167	33.7	22.3	2.41	29.1	10.9	NK	NK	NK	NK	+/Xp
Wu et al., 2014[36]	NK	NK	165	31.4	19.6	2.01	22.1	7.8	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	163	93.6	19.4	3.08	33	17.9	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	163	24.7	14.4	2.77	42	18.5	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	162	NK	NK	1.29	NK	NK	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	161	81.6	27.7	1.37	19.8	22.9	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	158	13.1	3.61	2.44	34	9.67	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	162	54.7	19.4	1.72	27	10.08	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	162	37.1	16.5	3.19	28	9.88	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	161	43	33.9	2.16	22	7.28	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	160	72	34.6	3.36	19.8	10	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	160	49	26.8	1.80	19.8	15.8	NK	NK	NK	NK	+/Xp
Gao et al., 2013[37]	NK	NK	161	87.7	31.4	5.21	30.5	49.6	NK	NK	NK	NK	+/Xp
Fuse et al., 1991[38]	30	90	172	47	60	1.60	NK	NK	N	−	NK	NK	+/Xp
Majzoub et al., 2017[39]	40	84	175	38	12	3.35	29	13.6	N	−	N	NK	+/Xp
Majzoub et al., 2017[39]	31	NK	NK	14	6	1.29	25	3.2	N	−	N	NK	+/Xp
Majzoub et al., 2017[39]	35	NK	NK	10	23	0.74	5.7	NK	P	+	N	NK	+/Xp
Majzoub et al., 2017[39]	29	77	181	28	15	0.74	NK	NK	N	−	N	S	-
Majzoub et al., 2017[39]	39	74	160	13.4	12	2.46	19	NK	N	−	N	NK	+/Xp
Majzoub et al., 2017[39]	32	86	170	29.7	16.9	0.95	NK	12	N	+	N	NK	+/Xp
Queralt et al., 2008[10]	31	58	170	62.2	25.8	3.23	17	NK	N	−	NK	NK	+/1q
Ahsan et al., 1998[40]	24	NK	165	35	21	1.8	NK	NK	P	+	N	S	NK
Yamamoto et al., 1995[41]	32	45	161	48.9	20.4	4.15	NK	12.3	N	−	N	S	+/NK
Jellad et al., 2016[42]	34	70	168	15.3	6.7	1.98	NK	5.3	N	+	S	N	-
Rizvi, 2008[43]	33	93	178	46.1	23.0	2.07	NK	NK	NK	NK	N	NK	+/Xp
Bouayed Abdelmoula et al., 2003[13]	32	64	172	18.0	10.1	5.00	NK	NK	N	−	S	S	+/Xp
Casas-Vargas et al., 2019[44]	40	59.7	156	NK	NK	6.10	32.46	NK	N	−	NK	S	-
Vetro et al., 2011[45]	47	NK	NK	39.5	14.4	1.00	NK	NK	NK	+	NK	S	-
Vetro et al., 2011[45]	46	NK	NK	39.5	14.4	1.00	NK	NK	NK	NK	NK	S	-
Vetro et al., 2015[46]	30	NK	NK	NK	NK	NK	NK	NK	NK	+	NK	NK	-
Vetro et al., 2015[46]	41	NK	171	NK	NK	NK	NK	NK	NK	−	N	S	-
Pastor Guzmán et al., 2011[47]	20	76	169	27.9	16.5	2.3	24.8	24.5	N	−	N	S	+/Xp
Gunes et al., 2013[48]	30	70	155	37.88	18.96	0.51	17.57	17.54	P	+	N	S	+/Xp
Gunes et al., 2013[48]	16	65	152	41.05	14.55	2.16	32	24.11	N	−	N	S	+/Xp
Bogdanet et al., 2020[49]	33	92.4	180	43.1	4.4	1.93	NK	5.3	NK	−	NK	S	+/Xp
Onrat et al., 2012[50]	23	NK	NK	9.95	17.3	0.20	NK	NK	N	−	N	S	+/NK
Jain et al., 2013[51]	38	63	162	76.6	36.3	1.20	NK	NK	N	+	N	NK	+/Xp
Yue et al., 2019[52]	23	49	165	NK	NK	NK	NK	NK	P	NK	NK	S	+/Xp
Yue et al., 2019[52]	36	57	171	45	29.6	1.12	19.27	9.21	N	NK	NK	S	+/Xp
Yue et al., 2019[52]	28	66	160	18.8	14.1	1.36	33.36	12.64	N	NK	NK	S	+/Xp
Yue et al., 2019[52]	32	50	169	45.4	28.5	1.56	31.8	10.29	P	NK	NK	S	+/Xp
Yue et al., 2019[52]	26	80	175	21.2	14.3	1.87	22.63	6.91	N	NK	NK	S	+/Xp
Yue et al., 2019[52]	30	60	170	62.83	27.12	2.65	17.9	14.88	N	NK	NK	S	+/Xp
Yue et al., 2019[52]	23	56	165	40.05	22.11	0.64	13.6	14.88	N	NK	NK	S	+/Xp
Yue et al., 2019[52]	27	51	168	6.6	9.6	1.04	33.14	22.8	N	NK	NK	S	-
Akinsal et al., 2017[53]	26	63	170	58.1	42.2	1.83	52	5.6	P	−	NK	S	+/Xp
Akinsal et al., 2017[53]	31	72	167	36.0	16.8	3.76	57.9	3.5	NK	−	NK	S	+/Xp
Akinsal et al., 2017[53]	30	72	170	17.9	10.3	2.73	24.6	7.9	NK	−	NK	S	+/Xp
Akinsal et al., 2017[53]	39	74	161	37.5	16.3	0.97	24.5	6.9	P	+	NK	S	+/Xp
Akinsal et al., 2017[53]	40	81	168	36.8	9.8	2.9	53.8	5.6	NK	−	NK	S	+/Xp
Akinsal et al., 2017[53]	30	66	162	57.3	16.9	1.54	49.2	6.4	NK	−	NK	S	+/Xp
Akinsal et al., 2017[53]	28	68	165	50.5	11.3	1.03	39.1	9.0	NK	−	NK	S	+/Xp
Akinsal et al., 2017[53]	24	66	163	43.1	17.9	2.42	21.2	8.6	P	−	NK	S	+/Xp
Ashfaq et al., 2021[54]	30	NK	NK	26	16	2.02	NK	NK	NK	NK	NK	S	-
Sreejith et al., 2019[55]	29	75	170	35	19.9	3.2	NK	6.7	N	−	N	S	+/Xp
Yiğman et al.,2021[56]	n=10	NK	NK	n=10	n=10	n=10	NK	n=10	NK	NK	n=10	n=10	n=10
	Mean age			Median	Mean	Median		Mean			Mean	Mean	Mean
				12.2	7.6.9±4.0	2.6		0.33±3.0			N	N	+/NK
	27.9±3.5
Akar et al., 2020[57]	34	74	161	28	23	2.8	20.9	NK	NK	+	S	S	+/Xp
Akar et al., 2020[57]	27	74	168	51.1	33.2	1.5	15.1	NK	NK	−	S	Right NK/left S	+/Xp
Akar et al., 2020[57]	25	62	160	38	30	2.4	36.1	NK	NK	−	S	S	+/Xp
Akar et al., 2020[57]	32	68	169	28.3	17.1	1.9	39.9	NK	NK	−	S	S	+/Xp
Akar et al., 2020[57]	25	75	171	23.7	16.4	2	40.4	NK	NK	−	N	S	+/Xp
Akar et al., 2020[57]	27	96	175	20.6	9.6	2.8	40.6	NK	NK	+	N	S	+/Xp
Akar et al., 2020[57]	30	70	155	40	20.1	0.6	21.2	NK	NK	+	N	S	+/Xp
Akar et al., 2020[57]	22	95	172	35	17.1	2.3	30.6	NK	NK	+	N	S	+/Xp
Akar et al., 2020[57]	16	65	152	41.1	14.6	2.2	32	NK	NK	−	S	S	+/Xp
Baziz et al., 2016[58]	44	NK	NK	51	11.71	NK	NK	NK	N	+	N	S	+/Xp
Terribile et al., 2019[59]	36	74	165	24.7	9.4	2.7	14	12.2	NK	+	N	S	+/Xp
Rajput et al.,2016[60]	25	85	170	13.7	10.16	1.8	NK	6.32	N	+	S	S	NK
Abusheikha et al.,2001[61]	28	NK	171	50.7	15.6	3.17	NK	6.58	N	−	N	S	-
Yabiku et al., 2018[62]	NK	NK	NK	↑	↑	↓	NK	NK	NK	NK	NK	S	+/NK
Lee et al., 2016[63]	37	NK	NK	NK	NK	NK	NK	NK	NK	NK	NK	S	NK
Lee et al., 2016[63]	37	NK	NK	22	9.7	3.4	25	NK	NK	NK	S	S	NK
Lee et al., 2016[63]	36	59	165	42	18	1.9	13	NK	NK	NK	S	S	NK
Lee et al., 2016[63]	28	55	165	64	22	3.6	NK	7.8	NK	NK	S	S	+/NK
Lee et al., 2016[63]	31	NK	NK	42	14	2.2	NK	NK	NK	NK	S	S	NK
Lee et al., 2016[63]	30	NK	NK	16	4.5	5.1	2.2	NK	NK	NK	NK	S	NK
Lee et al., 2016[63]	33	65	NK	NK	NK	NK	NK	NK	NK	NK	NK	S	NK
Lee et al., 2016[63]	37	65	162	48	17	4.7	NK	NK	NK	NK	S	S	NK
Lee et al., 2016[63]	33	73	174	22.3	17.2	1.95	NK	NK	NK	NK	NK	S	NK
Lee et al., 2016[63]	38	62	160	45	18	3.5	NK	4.3	NK	NK	NK	S	+/NK
Lee et al., 2016[63]	28	NK	NK	29	13	1.8	NK	NK	NK	NK	NK	S	NK
Lee et al., 2016[63]	36	76	173	35	13	2.1	NK	NK	NK	NK	S	S	+/NK
Lee et al., 2016[63]	29	80	173	44	9.2	2.78	11	3.8	NK	NK	NK	S	+/NK
Lee et al., 2016[63]	29	72	163	34	5.9	1.3	8	8.8	NK	NK	NK		+/NK
Lee et al., 2016[63]	41	60	163	48.8	30.7	1.27	9.9	7.6	NK	NK	NK	S	+/NK
Lee et al., 2016[63]	37	56	165	5.3	8.4	0.58	144.7	14.4	NK	NK	NK	Right S/left NK	-
Lee et al., 2016[63]	42	45	156	45.1	13.3	1.62	NK	8.1	NK	NK	NK	S	-
Lee et al., 2016[63]	36	78	172	27	19.1	0.47	17	2.9	NK	NK	NK	S	-
Dada et al., 2002[64]	32	NK	163	70	84	NK	NK	NK	N	NK	N	S	-
Kaur et al., 2007[65]	32	NK	NK	56.18	25.83		NK	NK	N	NK	N	S	+/NK
Mohammadpour Lashkari et al., 2017[66] n=47	NK	NK	NK	Median 37.7	Median 21.27	Median ↓2.77	NK	NK	n=44 N n=2 P n=1 NK	n=43− n=3 + n=1 NK	NK	n=29 S n=18 NK	n=34 (+/Xp) n=1 (−) n=12 NK
El Salam et al., 2021[67]	35	NK	NK	68.21	59.03	0.63	58	NK	NK	+	S	S	-
Nguyen et al., 2017[68]	33	58	169	46.16	16.8	3.23	NK	NK	NK	NK	NK	S	-
Case 1	39	70	171	47	28.5	6.0	18.2	22.84	N	+	NK	S	+/Xp
Case 2	39	NK	NK	43	18.2	1.57	NK	10.4	N	N	N	S	+/Xp

NK=Not known, HD=Hair distribution, GM=Gynecomastia, PS=Penis size, TV=Testes volume, FSH=Follicle-stimulating hormone, LH=Luteinizing hormone, TT=Testosterone, E2=Estradiol, PRL=Prolactin, SRY=Sex determining region Y, N=Normal, P=Poor, S=Small, +=yes, -=no, ↓=low, ↑=elevated