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Table 1 Parameters of the patient samples included

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

Patients Karyotype Total testis volume (ml) Histological parameters Sperm (mTESE)
% SPT % SPC % SPG % SCO % TS
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
  1. 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
  2. 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