Microdissection testicular sperm extraction in five Japanese patients with non‐mosaic Klinefelter's syndrome

M Chihara, K Ogi, T Ishiguro, K Yoshida… - Reproductive …, 2018 - Wiley Online Library
men with non-mosaic KS that were included in this analysis were all Japanese. Informed
written consent was obtained from all the patients for infertility … product of a normal germ line.23 …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
… Approximately 7% of men suffer from fertility problems, the … workup of an infertile male with
severe oligozoospermia or … major genetic causes of male infertility. Monogenic defects are …

Genetic Profiling of the Infertile Male by Germline Mutation Analysis Using Ngs

S Cheung - 2022 - search.proquest.com
… Conclusions: By assessing the male gameteГs genome, we identified specific germline
, and helps with devising the best treatment options for couples with unexplained infertility. …

Approach to the infertile man

S Bhasin - The Journal of Clinical Endocrinology & Metabolism, 2007 - academic.oup.com
… in infertile men is higher than in fertile men (21), the mechanisms by which antisperm antibodies
cause infertility are … The gonadal function can be maintained in a majority of IHH men by …

Chromosomal Studies In Individuals With Infertility

ME de la Torre Santos, MH Martínez… - Revista Cubana de …, 2019 - revibiomedica.sld.cu
infertility in men by altering spermatogenesis and sperm function. About 10% of infertile men
… pseudohermaphroditism, and mixed gonadal dysgenesis which can be transformed into a …

Idiopathic male infertility is strongly associated with aberrant DNA methylation of imprinted loci in sperm: a case-control study

Q Tang, F Pan, J Yang, Z Fu, Y Lu, X Wu, X Han… - Clinical …, 2018 - Springer
… of infertile men with aberrant methylation of imprinted genes (n = 20) and fertile controls (n =
20). Infertile men … of the male germ line is a possible mechanism of compromised idiopathic …

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation

A Enriquez, M Krivanek, R Flöttmann… - American Journal of …, 2016 - Wiley Online Library
… The baby was identified as male by the parents, and their description of the baby suggested
likely 4-limb SHFM and CLP. Photographs later retrieved from the birth hospital showed the …

Reproductive genetic counselling in non‐mosaic 47, XXY patients: implications for preimplantation or prenatal diagnosis: case report and review

G Tachdjian, N Frydman… - Human …, 2003 - academic.oup.com
… A 27‐year‐old healthy man presented to our centre because of infertility. Physical
examination revealed bilateral testicular atrophy with an estimated testicular volume of 6.4 ml …

Genetic testing and counselling for male infertility

C Krausz, C Chianese - Current Opinion in Endocrinology …, 2014 - journals.lww.com
… preventive measures to preserve fertility have been proposed … of hormonal treatment in
infertile men with normal values of … In about 40% of male infertility, the cause is unknown and …

Genetics of male infertility

FTL Neto, PV Bach, BB Najari, PS Li… - Current urology reports, 2016 - Springer
… % of those men, and 30 % of the infertile men lack a definitive … mosaic is another rare
condition with a broad spectrum of phenotypes. 45X/46XY men may present with impaired gonadal