Genetic defects in human azoospermia

Table 1 Genetic abnormalities observed in cases of obstructive or non-obstructive azoospermia

Genetic abnormality	Type of azoospermia	Sterility phenotype	Reference
Chromosome abnormalities
Klinefelter syndrome	Non-obstructive azoospermia	Variable	[31]
47,XYY		Variable	[38, 39]
46,XX		SCOS	[46, 47]
Chromosome rearrangements		Variable	[21]
Y chromosome microdeletions
AZFa	Non-obstructive azoospermia	SCOS	[59]
AZFb		Meiotic arrest	[59]
AZFc		Variable	[59]
Gene mutations
CFTR	Obstructive azoospermia	CBAVD	[70, 73]
ADGRG2		CBAVD	[75]
PANK2		CBAVD	[87]
SLC9A3		CBAVD	[86]
TEX11	Non-obstructive azoospermia	Meiotic arrest	[90, 92]
DMC1		Meiotic arrest	[93]
DNAH6		Meiotic arrest	[94]
MAGEB4		SCOS	[97]
MCM8		Unknown	[99]
MEIOB		Meiotic arrest	[94]
MEI1		Meiotic arrest	[105]
NPAS2		Unknown	[108]
PSMC3IP		Unknown	[110]
SPINK2		Post-meiotic arrest	[111]
STX2		Meiotic arrest	[112]
SYCE1		Meiotic arrest	[114]
TAF4B		Unknown	[116]
TDRD7		Post-meiotic arrest	[119]
TDRD9		Meiotic arrest	[122]
TEX14		Meiotic arrest	[94]
TEX15		Meiotic arrest	[127]
XRCC2		Meiotic arrest	[132]
ZMYND15		Meiotic arrest	[116]

CBAVD congenital bilateral absence of the vas deferens, SCOS Sertoli-cell-only syndrome

ISSN: 2051-4190