PMID- 32115387
OWN - NLM
STAT- MEDLINE
DCOM- 20210413
LR  - 20210413
IS  - 2300-732X (Electronic)
IS  - 1642-431X (Linking)
VI  - 20
IP  - 2
DP  - 2020 Jun
TI  - Detection of low-grade mosaicism and its correlation with hormonal profile, 
      testicular volume, and semen quality in a cohort of Egyptian Klinefelter and 
      Klinefelter-like patients.
PG  - 259-263
LID - S1642-431X(19)30401-2 [pii]
LID - 10.1016/j.repbio.2020.02.002 [doi]
AB  - Klinefelter syndrome (KS) is the most common chromosomal syndrome, causing 
      infertility in men and leading to non-obstructive azoospermia. Previous studies 
      on mosaicism have shown contradictory results on its correlation with both serum 
      hormone levels and the presence of spermatozoa in the ejaculate of KS, KS-like, 
      and non-KS-like infertile patients. So, the present study was designed to detect 
      low-grade mosaicism in the peripheral blood lymphocytes and buccal mucosa cells 
      of 14 KS and 8 KS-like patients by using fluorescence in situ hybridization 
      (FISH) and to investigate its correlation with luteinizing hormone (LH), 
      follicle-stimulating hormone (FSH), and testosterone (T) levels, testicular 
      volume, and semen analysis compared with 10 normal healthy fertile men. Our 
      results indicated that mosaicism was only found in 42.9 % of the KS patients and 
      completely absent in all KS-like patients. Moreover, mosaicism has led to 
      complete azoospermia and non-significant differences in both hormone levels and 
      testicular volume between mosaic and non-mosaic KS patients. All KS patients 
      demonstrated significant differences in both hormone levels and testicular volume 
      compared with normal men. Conversely, they revealed non-significant differences 
      in hormone levels and significant differences in testicular volume compared with 
      KS-like patients. Additionally, the KS-like patients exhibited non-significant 
      variations in both LH and FSH levels and significant variations in T level and 
      testicular volume compared with normal men. Moreover, all KS-like patients had 
      azoospermia, except for one patient who showed oligozoospermia. Therefore, no 
      correlations were found either between mosaicism and serum hormone levels or with 
      testicular volume and semen analysis.
CI  - Copyright (c) 2020 Society for Biology of Reproduction & the Institute of Animal 
      Reproduction and Food Research of Polish Academy of Sciences in Olsztyn. 
      Published by Elsevier B.V. All rights reserved.
FAU - Madian, Abdelrahman
AU  - Madian A
AD  - Human Cytogenetics, National Research Center, 12622, Cairo, Egypt.
FAU - Eid, Maha M
AU  - Eid MM
AD  - Human Cytogenetics, National Research Center, 12622, Cairo, Egypt.
FAU - Shahin, Adel A B
AU  - Shahin AAB
AD  - Department of Zoology, Faculty of Science, Minia University, 61519, El Minia, 
      Egypt. Electronic address: adel.shahin@mu.edu.eg.
FAU - Mazen, Inas
AU  - Mazen I
AD  - Department of Clinical Genetics, National Research Center, 12622, Cairo, Egypt.
FAU - El-Bassyouni, Hala T
AU  - El-Bassyouni HT
AD  - Department of Clinical Genetics, National Research Center, 12622, Cairo, Egypt.
FAU - Eid, Ola M
AU  - Eid OM
AD  - Human Cytogenetics, National Research Center, 12622, Cairo, Egypt.
LA  - eng
PT  - Journal Article
DEP - 20200227
PL  - Poland
TA  - Reprod Biol
JT  - Reproductive biology
JID - 101160559
SB  - IM
MH  - Humans
MH  - Klinefelter Syndrome/*genetics
MH  - Male
MH  - *Mosaicism
MH  - Testis/*pathology
OTO - NOTNLM
OT  - Azoospermia
OT  - Buccal mucosa cells
OT  - FSH
OT  - Oligozoospermia
OT  - Peripheral blood lymphocytes
COIS- Declaration of Competing Interest The authors declare no conflicts of interest 
      and that the present research work did not receive any specific grant from 
      funding agents.
EDAT- 2020/03/03 06:00
MHDA- 2021/04/14 06:00
CRDT- 2020/03/03 06:00
PHST- 2019/11/04 00:00 [received]
PHST- 2020/02/05 00:00 [revised]
PHST- 2020/02/14 00:00 [accepted]
PHST- 2020/03/03 06:00 [pubmed]
PHST- 2021/04/14 06:00 [medline]
PHST- 2020/03/03 06:00 [entrez]
AID - S1642-431X(19)30401-2 [pii]
AID - 10.1016/j.repbio.2020.02.002 [doi]
PST - ppublish
SO  - Reprod Biol. 2020 Jun;20(2):259-263. doi: 10.1016/j.repbio.2020.02.002. Epub 2020 
      Feb 27.