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Genetic Counselling and Psychosexual Considerations in Male Health and Reproduction

  • Margaret G. Au
  • Sue Jackson
Chapter

Abstract

The chapter starts with a focus on the issues associated with genetic counselling. The process of genetic counselling is described, followed by a discussion of inheritance patterns commonly observed in reproductive disorder. Current genetic testing options with considerations for their benefits, limitations, and possible results are reviewed. The second section starts by briefly describing current theories of psychosexual development as well as highlighting some issues which suggest the limit of their utility. We then move to consider the psychogenic aspects of sexual function for men focusing mostly on those issues likely to be experienced by those with endocrine disorders. We also consider the problems men face when consulting with healthcare professionals about sexual function and make the case for the use of tools and techniques to aid the process.

Keywords

Genetic counselling X-linked Autosomal dominant Autosomal recessive Digenic Cytogenetic Sex Gender identity Mental health 

Abbreviations

BDSM

Bondage, discipline, and sadomasochism

CBAVD

Congenital bilateral absence of the vas deferens

CHH

Congenital hypogonadotropic hypogonadism

FISH

Florescence in situ hybridization

FSH

Follicle stimulating hormone

KS

Klinefelter’s Syndrome

LH

Luteinizing hormone

PCR

Polymerase chain reaction

References

  1. Aron EN. The highly sensitive person: how to thrive when the world overwhelms you. London: Harper Collins; 1999.Google Scholar
  2. Au MG, Crowley WF, Buck CL. Genetic counseling for isolated GnRH deficiency. Mol Cell Endocrinol. 2011;346(1–2):102–9.CrossRefGoogle Scholar
  3. Baetens D, Mladenov W, Delle Chiaie B, Menten B, Desloovere A, Iotova V, Callewaert B, Van Laecke E, Hoebeke P, De Baere E, Cools M. Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development. Orphanet J Rare Dis. 2014;9:209.CrossRefGoogle Scholar
  4. Benjamin CM, Thomas LH, Skirton H, Gustafson S, Coupe J, Patch C, Belk R, Tishkovskaya S, Calzone K, Payne K. Interventions to improve patient access to and utilisation of genetic and genomic counselling services. Cochrane Database Syst Rev. 2015;(11).  https://doi.org/10.1002/14651858.CD011873.
  5. Bennett RL, Steinhaus French K, Resta RG, Lochner Doyle D. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns. 2008;17:424–33.CrossRefGoogle Scholar
  6. Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2015;11(9):547–64.CrossRefGoogle Scholar
  7. Boyd DG, Bee HL. Lifespan development. 6th ed. Harlow: Pearson Education Limited; 2014.Google Scholar
  8. Brown B. Daring greatly: how the courage to be vulnerable transforms the way we live, love, parent and lead. London: Penguin; 2015.Google Scholar
  9. Buck C, Balasubramanian R, Crowley WF. Isolated gonadotropin-releasing hormone (GnRH) deficiency. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle: University of Washington; 2013. http://www.ncbi.nlm.nih.gov/books/NBK1334/. Accessed 1 August 2016.Google Scholar
  10. Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF Jr. Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab. 2013;98(5):E943–53.CrossRefGoogle Scholar
  11. Delikurt T, Williamson GR, Anastasiadou V, Skirton H. A systematic review of factors that act as barriers to patient referral to genetic services. Eur J Hum Genet. 2015;23(6):739–45.CrossRefGoogle Scholar
  12. Délot EC, Vilain EJ. Nonsyndromic 46,XX testicular disorders of sex development. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle: University of Washington; 2015. http://www.ncbi.nlm.nih.gov/books/NBK1416/. Accessed 1 August 2016.Google Scholar
  13. Gilbert P. The compassionate mind. London: Constable & Robinson; 2010.Google Scholar
  14. Giordano S. Medical treatment for children with gender dysphoria: conceptual and ethical issues. In: Kreukels BPC, Steensma TD, de Vries ALC, editors. Gender dysphoria & disorders of sex development. New York: Springer; 2014. p. 205–30.CrossRefGoogle Scholar
  15. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001;3(2):149–54.CrossRefGoogle Scholar
  16. Heihir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, Robinson PN. Towards a European consensus for reporting incidental findings during clinical NGS testing. Eur J Hum Genet. 2015;23:1601–6.CrossRefGoogle Scholar
  17. Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT, on behalf of the ACMG Secondary Findings Maintenance Working Group. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(2):249–55.CrossRefGoogle Scholar
  18. Krausz C, Chianese C. Genetic testing and counselling for male infertility. Curr Opin Endocrinol Diabetes Obes. 2014;21:244–50.CrossRefGoogle Scholar
  19. Kreukels BPC, Steensma TD, de Vries ALC, editors. Gender dysphoria & disorders of sex development. New York: Springer; 2014.Google Scholar
  20. Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 2013;92(5):725–43.CrossRefGoogle Scholar
  21. Morris M, Jackson S, Hancock J. The psychological and social impact of Klinefelter’s syndrome: a report for the Klinefelter’s Syndrome Association. Bristol: University of the West of England; 2009.Google Scholar
  22. Pennebaker JW, Zech E, Rimé B. Disclosing and sharing emotion: psychological, social, and health consequences. In: Stroebe MS, Stroebe W, Hansson RO, Schut H, editors. Handbook of bereavement research: consequences, coping, and care. Washington, DC: American Psychological Association; 2001.Google Scholar
  23. Pfäfflin F. Identity: a historical and political reflection. In: Kreukels BPC, Steensma TD, de Vries ALC, editors. Gender dysphoria & disorders of sex development. New York: Springer; 2014. p. p331–46.CrossRefGoogle Scholar
  24. Stuart MR, Lieberman JA III. The fifteen minute hour: therapeutic talk in primary care. 4th ed. Oxford: Radcliffe; 2008.CrossRefGoogle Scholar

Key Reading

  1. 1.
    Bennett RL, Steinhaus French K, Resta RG, Lochner DD. Standardized human Pedigree nomenclature: UPDATE and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Counsel. 2008;17:424–33.CrossRefGoogle Scholar
  2. 2.
    Buck C, Balasubramanian R, Crowley WF. Isolated gonadotropin-releasing hormone (GnRH) deficiency. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle: University of Washington; 2013. http://www.ncbi.nlm.nih.gov/books/NBK1334/. Accessed 1 August 2016.Google Scholar
  3. 3.
    Délot EC, Vilain EJ. Nonsyndromic 46,XX testicular disorders of sex development. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle: University of Washington; 2015. http://www.ncbi.nlm.nih.gov/books/NBK1416/. Accessed 1 August 2016.Google Scholar
  4. 4.
    Boyd DG, Bee HL. Lifespan development. 6th ed. Harlow: Pearson Education Limited; 2014.Google Scholar
  5. 5.
    Kreukels BPC, Steensma TD, de Vries ALC, editors. Gender dysphoria & disorders of sex development. New York: Springer; 2014.Google Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Margaret G. Au
    • 1
  • Sue Jackson
    • 2
    • 3
  1. 1.Department of PediatricsCedars-Sinai Medical CenterLos AngelesUSA
  2. 2.Psychology DepartmentUniversity of the West of EnglandBristolUK
  3. 3.Wellbeing ServiceBristolUK

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