SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature

Table 1 Characteristics of 34 reported 45,X/46,XY adult male cases

Ref.	No.	Age in yr	Karyotype[%]	Reason for examination	Semen analysis	Height in cm	Genital/gonads	LH in U/L	FSH in U/L	T in ng/mL	E2 in pg/mL	AZF	SRY
Wu et al[8], 2017	1	22	45,X[93.3]/46,XY[6.7]	Primary sterility	AZO	148	Male/left and right TV: 4.4 mL, 1.6 mL dysplasia of epididymis	17.07	52.78	3.94	13.58	No missing	+
	2	23	45,X[36.7]/46,X,del(Y)(q11.223)[63.3]	Primary sterility	AZO	159	Male/left and right TV: 8.7 mL, 8.7 mL	9.98	16.22	4.32	37.38	AZF(b+c)	+
	3	23	45,X[65]/46,XY[35]	Primary sterility	AZO	173	Male/left and right TV: 4 mL, 5.4 mL	9.10	15.33	2.52	< 5.00	AZF(b+c)	+
	4	26	45,X[6]/46,XY[94]	Primary sterility	AZO	170	Male/left and right TV: 3.8 mL, 4.5 mL	9.32	17.04	4.06	47.79	AZF(b+c)	+
	5	26	45,X[83.3]/46,X,Yqh–[16.7]	Primary sterility	AZO	165	Male/left and right TV: 6 mL, 6 mL	10.44	28.20	7.12	33.26	AZF(b+c)	+
	6	29	45,X[45]/46,X,Yqh–[55]	Primary sterility	AZO	160	Male/left and right TV: 5.4 mL, 6.2 mL	13.58	22.00	3.49	40.95	AZF(b+c)	+
	7	29	45,X[28.3]/46,XY[71.7]	Primary sterility	AZO	165	Male/left and right TV: 6 mL, 3.2 mL	14.26	31.31	3.26	20.64	AZF(b+c)	+
Akinsal et al[9], 2018	8	24	45,X[66]/46,XY[34]	Primary sterility	AZO	158	Male/left and right TV: 18 mL, 12 mL	19.7	15.15	3.83		AZFc	+
	9	26	45,X[70]/46,XY[30]	Primary sterility	AZO	178	Male/left and right TV: 9 mL, 9 mL	7.5	9.8	6.74	16.14	No missing	+
	10	29	45,X[40]/46,XY[60]	Primary sterility	AZO	156	Male/left and right TV: 7 mL, 7 mL	7.97	20.4	7.44	48.6	AZFc	+
	11	40	45,X[30]/46,XY[70]	Primary sterility	AZO	165	Male/left and right TV:14 mL, 14 mL	9.96	22.29	3.78		No missing	+
	12	26	45,X[55]/46,XY[45]	Primary sterility	AZO	165	Male/left and right TV: 12 mL, 14 mL	7.96	6.91	3.96	19.01	No missing	+
	13	29	45,X[66]/46,XY[34]	Primary sterility	AZO	164	Male/left and right TV: 8 mL, 10 mL	13.2	28	4.00	40.8	AZF(b+c)	+
	14	33	45,X[73]/46,XY[27]	Primary sterility	AZO	160	Male/left and right TV: 18 mL, 18 mL	3.8	11.12	2.52	18.63	No missing	+
	15	41	45,X[45]/46,XY[55]	Primary sterility	AZO	155	male/left and right TV: 8 mL, 7 mL	19.25	25.16	1.68	72.06	No missing	+
Lindhardt et al[10], 2012	16	20	45,X[63]/46,Xdel(Y)(q12)[37]	Delayed puberty			Male/left and right TV:12 mL, 15 mL					AZF(b+c)	+
	17	28	45,X[20]/46,XY[80]	Infertility			Male/left and right TV: 2 mL, 0 mL					No missing	+
	18	33	45,X[55.6]/46,XY[44.4]	Infertility			Male/left and right TV: 12 mL, 6 mL					AZF(b+c)	+
	19	49	45,X[33.3]/46,Xidic(Y)(p)[66.7]	Infertility			Male/left and right TV: 4 mL, 4 mL					AZF(a+b+c)	+
Ren et al[11], 2015	20	27	45,X[50]/46,XY[50]	Primary infertility				N	14 IU/L	N	N	No missing	+
Rosa et al[12], 2014	21	24	45,X[33]/46,XY[67]	Primary infertility	AZO		EMS 12	N
Ketheeswaran et al[13], 2019	22	39	45,X[6]/46,XY[94], peripheral blood; 46,XY, buccal mucosal cells	Primary infertility	N	181	Male/left and right TV: 20 mL, 18 mL	1.8 IU/L	1.3 IU/L	10.2 nmol/L	0.06 nmol/L
Reddy et al[14], 1998	23	37	45,X[47]/46,XY[53], peripheral blood; 45,X[43]/46,XY[57], testis	Infertility	AZO		Male/atrophic testis
Gassó-Matoses et al[15], 1992	24	33	45,X[85]/46,XY[15], testis	Infertility	AZO	157	Bilateral small testis	10	17.2	430 ng/dL
Li et al[16], 2013	25	23	45,X[19]/46,XY[81]	Primary infertility	AZO	162	N					AZFc	+
	26	25	45,X[15]/46,XY,Yqh-[85]	Primary infertility	OLIGO	158	N					No missing	+
	27	30	45,X[15]/46,XY[85]	Primary infertility	AZO	163	N					AZF(b+c)	+
	28	24	45,X[56]/46,X,dic(Y)[44]	Primary infertility	AZO	157	N					AZFc	+
	29	36	45,X[55]/46,XY,Yp+[45]	Primary infertility	AZO	155	N					No missing	+
	30	26	45,X[22]/46,X,dic(Y)[78]	Primary infertility	AZO	168	N					No missing	+
Kilic et al[17], 2010	31	28	45,X[5]/46,XY[95]	Infertility	AZO		Testicular diameters: 3 cm × 3.5 cm	16	21	2.21		AZFb	+
	32	25	45,X[20]/46,XY[80]	Primary infertility	OLIGO		Testicular diameters: 3.2 cm × 2.5 cm	18	26	2.8
	33	32	45,X[45]/46,XY[55]	Primary infertility	AZO		Testicular diameters: 4.0 cm × 2.8 cm	17	23	2.77		AZF(b+c)	+
Valetto et al[18], 2004	34	41	45,X[71]/46,X,idic(Yp)[26]/46,XY[3]	Infertility	AZO	155		N				AZF(b+c)	+

AZO: Azoospermia; E2: Estrogen; EMS: External masculinization score; FSH: Follicle-stimulating hormone; LH: Luteinizing hormone; N: Normal; OLIGO: Oligozoospermia; T: Testosterone; TV: Testicular volume.