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Journal of Assisted Reproduction and Genetics

, Volume 36, Issue 12, pp 2481–2484 | Cite as

Live birth in male de novo Kallmann syndrome after cross-generational genetic sequencing

  • Cindy Chan
  • Cheng-Wei Wang
  • Ching-Hui Chen
  • Chi-Huang ChenEmail author
Assisted Reproduction Technologies
  • 58 Downloads

Abstract

Purpose

To present the first case proposing the use of preimplantation genetic testing for monogeneic disorders for Kallmann syndrome, providing comprehensive care in the genomic era of precision medicine.

Methods

Gonadotropin therapy was used for spermatogenesis, followed by in vitro fertilization by intracytoplasmic sperm injection and embryo transfer. Cross-generational targeted next-generation sequencing was then done for genes known to cause Kallmann syndrome.

Results

A heterozygous mutation at codon 102 of the FGFR1 gene was found in the patient, but the father was found to have the same mutation yet is unaffected by Kallmann syndrome. Since no causative mutation was found, a de novo or sporadic mutation was suspected as the cause of Kallmann syndrome in this case.

Conclusions

Comprehensive care must be available for male Kallmann syndrome patients, as treatment should not stop at spermatogenesis, but continue with genetic counseling due to possible inheritance.

Keywords

Kallmann syndrome Next-generation sequencing Genetic counseling Spermatogenesis 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Cindy Chan
    • 1
  • Cheng-Wei Wang
    • 1
  • Ching-Hui Chen
    • 1
    • 2
  • Chi-Huang Chen
    • 1
    • 2
    Email author
  1. 1.Division of Reproductive Medicine, Department of Obstetrics and GynecologyTaipei Medical University HospitalTaipeiTaiwan
  2. 2.Department of Obstetrics and Gynecology, School of Medicine, College of MedicineTaipei Medical UniversityTaipeiTaiwan

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