scholarly journals Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia

2014 ◽  
Vol 31 (7) ◽  
pp. 817-821 ◽  
Author(s):  
M. E. Bakircioglu ◽  
P. Tulay ◽  
N. Findikli ◽  
B. Erzik ◽  
M. Gultomruk ◽  
...  
Urology ◽  
2006 ◽  
Vol 68 (5) ◽  
pp. 1082-1086 ◽  
Author(s):  
Mustafa Emre Bakircioglu ◽  
Halit Firat Erden ◽  
Tansel Kaplancan ◽  
Nadir Ciray ◽  
Faruk Bener ◽  
...  

2018 ◽  
Vol 31 (2) ◽  
pp. 239-245 ◽  
Author(s):  
Yufei Xu ◽  
Yulin Chen ◽  
Niu Li ◽  
Xuyun Hu ◽  
Guoqiang Li ◽  
...  

Abstract Background: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicity. This study aimed to analyze the clinical presentation and diagnosis as well as highlight the molecular characteristics of a subject with LCH type 1. Case presentation: Clinical data were collected from the subject and analyzed. Next generation sequencing of the immediate family pedigree using peripheral blood genomic DNA was performed, and the relevant mutations were verified with Sanger sequencing. We describe the case of a 5-year-old patient with DSD, presenting with a lateral inguinal hernia accompanied by abnormal hormone tests. The genetic analysis revealed novel compound heterozygous variants in the LHCGR gene, including a splice site mutation (c.681-1 G>A) and a frameshift variant (c.1582_1585del ATAT, p.Ile528*). Conclusions: We identified novel compound heterozygous variants in the LHCGR gene, and expanded the genotype-phenotype correlation spectrum of LHCGR variants.


2003 ◽  
Vol 80 ◽  
pp. 206-207
Author(s):  
Valérie Vernaeve ◽  
Catherine Staessen ◽  
Greta Verheyen ◽  
André Van Steirteghem ◽  
Paul Devroey ◽  
...  

1985 ◽  
Vol 106 (6) ◽  
pp. 1057 ◽  
Author(s):  
Ivo J.P. Arnhold ◽  
Berenice B. Mendonça ◽  
Walter Bloise ◽  
Sérgio P.A. Toledo

1998 ◽  
Vol 12 (11) ◽  
pp. 1651-1660 ◽  
Author(s):  
Shao-Ming Wu ◽  
Karen M. Hallermeier ◽  
Louisa Laue ◽  
Caroline Brain ◽  
A. Caroline Berry ◽  
...  

1995 ◽  
Vol 4 (8) ◽  
pp. 1429-1433 ◽  
Author(s):  
Louisa Laue ◽  
Shao-Ming Wu ◽  
Masataka Kudo ◽  
Aaron J.W. Hsueh ◽  
Gordon B. Cutler ◽  
...  

2020 ◽  
Author(s):  
I-Shen Huang ◽  
Richard J Fantus ◽  
Wei-Jen Chen ◽  
James Wren ◽  
Wei-Tang Kao ◽  
...  

Abstract Background The purpose of this study is to evaluate the prognostic factors for sperm retrieval and determine if Y chromosome deletion is associated with deleterious effects. Whether Y chromosome deletion determines the sperm retrieval rate in non-mosaic Klinefelter patients has not yet been addressed. Methods We retrospectively collected medical records of azoospermic patients from Sep 2009 to Dec 2018, and enrolled 66 non-mosaic 47, XXY patients who were receiving mTESE. The predictive values of patients age, serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, prolactin, estradiol and Y chromosome deletion were assessed for successful sperm recovery. Results Testicular sperm recovery was successful in 24 (36.4%) of 66 men. The mean age (36.0 vs. 36.6 years), and levels of FSH (30.0 vs 36.9 IU/L), LH (17.7 vs 21.9 IU/L), testosterone (2.4 vs. 2.1 ng/ml), prolactin (9.1 vs. 8.8 ng/ml), and estradiol (19.4 vs. 22.3 pg/ml) did not show any significant difference when comparing patients with and without successful sperm retrieval. Partial deletion of azoospermic factor c (AZFc) was noted in 5 (20.8%) of 24 patients with successful sperm retrieval, including three b2/b3 and two gr/gr deletion cases, whereas 4 (9.5%) of 42 patients with unsuccessful sperm retrieval were noted to have AZFc partial deletion (one b2/b3 , one sY1206 and two gr/gr deletion), though the difference was not statistically significant (p=0.27) Conclusion According to present results, age and AZFc partial deletion status should not be a deterrent for azoospermic males with non-mosaic Klinefelter syndrome to undergo mTESE.


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