High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting

Table 1 Parameters of the patient samples included

Patients	Karyotype	Total testis volume (ml)	Histological parameters					Sperm (mTESE)
Patients	Karyotype	Total testis volume (ml)	% SPT	% SPC	% SPG	% SCO	% TS	Sperm (mTESE)
Normal (n = 5)	Not determined	20.7 (± 11.2)	66.0 (± 13.4)	22.2 (± 8.9)	1.6 (± 1.4)	0.2 (± 0.4)	1.4 (± 1.0)	Yes
SCO (n = 3)	46,XY	8.7 (± 3.8)	0	0	0	99.0 (± 1.0)	1.0 (± 1.0)	No
KS+ (n = 4)	1: 48,XXYY 2–4: 47,XXY	7.8 (± 5.7)	0.3 (0.5)	1,75 (± 2.9)	0	73,3 (± 25.6)	24.3 (± 26.9)	1, yes; 2–4, no
KS− (n = 3)	1–3: 47,XXY	2.0 (± 0)	0	0	0	19.3 (± 11.2)	80.7 (± 11.2)	1 no; 2, yes; 3, yes

Mean values of the testicular volumes per patient group are given as well as the percentage of tubules showing the most advanced stage of germ cell differentiation. Finally, it is indicated whether mTESE samples contained sperm
KS Klinefelter syndrome, + with testicular germ cells, − without testicular germ cells, mTESE microsurgical testicular sperm extraction, Normal testicular tissues with qualitatively normal spermatogenesis, SCO Sertoli cell-only syndrome, SPC spermatocyte, SPG spermatogonia, SPT spermatid, TS tubular shadows

ISSN: 1868-7083