Nonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia— From Genetics to Clinical Practice

Table 1

Summary of idic(Y)(q) cases described in the literature.

	idic(Y)	Testicular volume (ml)	Semen	Hormone levels			Testicular biopsy	AZF microdeletion	TESE
				FSH	LH	Testosterone
Current case	46,X,idic(Y)(q11.22)	8	AZ	Elevated	Normal	Normal	MA + SCO	AZF bc
Kalantari et al. [9]	46,X,idic(Y)(q11.22)	—	AZ	—	—	—	MA + SCO	AZF bc
	46,X,idic(Y)(q11.22)	—	AZ	—	—	—	MA + SCO	AZF bc
	46,X,idic(Y)(q11.22)	—	AZ	—	—	—	MA + SCO	AZF bc
Kim et al. [8]	46,X,idic(Y)(q11.2)	11	AZ	Normal	Normal	Normal	MA	AZF bc
	46,X,idic(Y)(q11.21)	5	AZ	Low	Low	Normal	—	AZF abc
	46,X,idic(Y)(q11.222)	12	AZ	Normal	Normal	Normal	—	AZF bc
	46,X,idic(Y)(q11.2)	2	AZ	Normal	Normal	Normal	—	AZF abc
	46,X,idic(Y)(q12)	3	AZ	Normal	—	Normal	MA	Normal
Antonelli et al. [10]	46,X,idic(Y)(q11.2)	Normal^1	AZ	Normal	Normal	Normal	—	AZF bc
	46,X,idic(Y)(q12)	Normal^1	Spermatocytes	Normal	Normal	Normal	—	Normal
Takeda et al. [7]	46,X,idic(Y)(q11.2)	7	—	Elevated	Normal	Normal	SCO	—	No spermatozoa^2
Mascarenhas et al. [6]	46,X,idic(Y)(q11.21)	—	AZ	Elevated	—	—	—	—	No spermatozoa

AZ = azoospermia; MA = maturation arrest; SCO = Sertoli cell-only; TESE = testicular sperm extraction. ¹No detailed testicular volume reported; ²micro-TES.