Table 2.

Clinical features of the patients positive for pre-diagnostic genes.

	Gene(s)	Clinical suspect	Sperm parameters1	FSH serum levels (IU/ml)	Testicular volume (right and left)2	Testicular histology	FSH responsiveness3
Subject 1	DNAH11, DNAI1, GALNTL5	Primary defects of spermatogenesis	Mild OAT	6.6	9.6 ml and 14.9 ml	—	No
Subject 2	DNAH5, AMELY	Primary defects of spermatogenesis	Azoospermia	8.0	19.5 ml and 19.9 ml	NA	NA
Subject 3	CCDC40	Primary defects of spermatogenesis	OAT	5.4	9.8 ml and 11.2 ml	—	NA
Subject 4	DNAH10	Primary defects of spermatogenesis	?	?	?	?	?
Subject 5	KLK4	Primary defects of spermatogenesis	Mild OAT	3.6	15.1 ml and 11.7 ml	—	NA
Subject 6	DNAH10	Primary defects of spermatogenesis	Mild OAT	7.3	7.5 ml and 12.6 ml	—	No
Subject 7*	DNAH11	Primary defects of spermatogenesis	Normozoospermia	5.7	10.9 ml and 10.7 ml	—	Yes
Subject 8	CFTR	Primary defects of spermatogenesis	OAT	16.3	6.3 ml and 9.8 ml	—	—
Subject 9	CATSPER2, KLK14	Primary defects of spermatogenesis	Azoospermia	32.7	6.7 ml and 8.7 ml	Sertoli cell only syndrome	—
Subject 10	ADCY10	Primary defects of spermatogenesis	OAT	3.6	10.1 ml and 12.5 ml	—	No

¹Assessed using WHO 2010 guidelines.

²Evaluated by ultrasound (ml).

³FSH responsiveness was defined by the doubling of sperm concentration or total sperm count vs. pre-treatment values.

*The patient was diagnosed for reversal central hypogonadism. The values shown have been measured following 5 months from treatment withdrawal.

Severe oligozoospermia was defined for total sperm count <1.0 million; mild oligozoospermia was defined for total sperm count enclosed between 1.0 and 5.0 million; oligozoospermia for total sperm count enclosed between 5.0 and 39.0 million (21).

FSH, follicle-stimulating hormone; NA, not available; OAT, oligo-astheno-teratozoospermia.