Vol 95, No 4 (2024)
Research paper
Published online: 2023-10-18

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Hypogonadism — when does genetic diagnosis help in therapy?

Katarzyna K. Jankowska1, Anna Kutkowska-Kazmierczak2, Agnieszka Magdalena Rygiel2
Pubmed: 37861224
Ginekol Pol 2024;95(4):245-251.

Abstract

Objectives: The objective of the study was to describe phenotype-genotype correlation in selected cases with infertility and emphasise the importance of  genetic  testing as useful  tool for proper treatment decision making Material and methods: Genetic tests were performed in four patients as a part of diagnostic procedure by Sanger sequencing or targeted next generation sequencing (NGS gene panel). Results: We found the genetic causes of hypogonadotropic hypogonadism in 3 males and female with infertility. Conclusions: Genetic testing is carried out when searching for the genetic causes of clinically identified disorders. Genetic diagnostics may also be extremely helpful in treating hypogonadism but requires the assistance of a clinician endocrinologist or andrologist, as well as a geneticist.

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References

  1. Carson SA, Kallen AN. Diagnosis and management of infertility: a review. JAMA. 2021; 326(1): 65–76.
  2. De Rycke M, Capalbo A, Coonen E, et al. ESHRE Working Group on Chromosomal Mosaicism. ESHRE survey results and good practice recommendations on managing chromosomal mosaicism. Hum Reprod Open. 2022; 2022(4): hoac044.
  3. Houston BJ, Riera-Escamilla A, Wyrwoll MJ, et al. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Hum Reprod Update. 2021; 28(1): 15–29.
  4. Volozonoka L, Miskova A, Kornejeva L, et al. A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure. Reproduction. 2022; 163(6): 351–363.
  5. Khalife D, Ghazeeri G, Kutteh W. Review of current guidelines for recurrent pregnancy loss: new strategies for optimal evaluation of women who may be superfertile. Semin Perinatol. 2019; 43(2): 105–115.
  6. Jankowska K, Kutkowska-Kaźmierczak A, Zgliczyński W, et al. Recommendations on the diagnosis of male infertility — genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]. Endokrynol Pol. 2020; 71(6): 561–572.
  7. Lotti F, Frizza F, Balercia G, et al. The European Academy of Andrology (EAA) ultrasound study on healthy, fertile men: Scrotal ultrasound reference ranges and associations with clinical, seminal, and biochemical characteristics. Andrology. 2021; 9(2): 559–576.
  8. Paira DA, Molina G, Tissera AD, et al. Results from a large cross-sectional study assessing Chlamydia trachomatis, Ureaplasma spp. and Mycoplasma hominis urogenital infections in patients with primary infertility. Sci Rep. 2021; 11(1): 13655.
  9. Li S, Zhao Y, Nie M, et al. Clinical characteristics and spermatogenesis in patients with congenital hypogonadotropic hypogonadism caused by mutations. Int J Endocrinol. 2020; 2020: 8873532.
  10. Bachelot A, Monget P, Imbert-Bolloré P, et al. Growth hormone is required for ovarian follicular growth. Endocrinology. 2002; 143(10): 4104–4112.
  11. Bieniek JM, Lapin CD, Jarvi KA. Genetics of and male infertility. Transl Androl Urol. 2021; 10(3): 1391–1400.
  12. Corona G, Goulis DG, Huhtaniemi I, et al. European Academy of Andrology (EAA) guidelines on investigation, treatment and monitoring of functional hypogonadism in males: Endorsing organization: European Society of Endocrinology. Andrology. 2020; 8(5): 970–987.
  13. Carson SA, Kallen AN. Diagnosis and management of infertility: a review. JAMA. 2021; 326(1): 65–76.
  14. René C, Paulet D, Girodon E, et al. p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study. Eur J Hum Genet. 2011; 19(1): 36–42.
  15. Cho CY, Tsai WY, Lee CT, et al. Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience. J Formos Med Assoc. 2022; 121(1 Pt 1): 218–226.