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Archive : Article / Volume 2, Issue 2

Syndromic conditions in childhood resulting into infertility

Dr. Rajeev Gupta

Chairman Central Specialist Committee Royal College of Paediatrics & Child HealthVice Chairman CESR Committee, Royal College of Paediatrics Ex-Chairman Regional Consultant Committee BMARecent Chairman Regional Council British Medical AssociationBarnsley Foundation Hospital, United Kingdom.

Correspondng Author:

Dr. Rajeev Gupta

Citation:

Dr. Rajeev Gupta (2023), Syndromic conditions in childhood resulting into infertility. International Journal of Reproductive Research.2(1). DOI: 10.58489/2836-2225/015

Copyright:

© 2023 Dr. Rajeev Gupta. this is an open-access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

  • Received Date: 05-04-2023   
  • Accepted Date: 30-06-2023   
  • Published Date: 03-07-2023
Abstract Keywords:

Abstract

Introduction

Infertility is a growing concern worldwide, affecting approximately 10-15% of couples of reproductive ages. While there are many causes of infertility, syndromic conditions that present in childhood can be the cause and is a major concern for the parents (1).

The management of syndromic conditions that impact fertility requires a more sympathetic, comprehensive and coordinated approach, involving collaboration between various healthcare professionals and addressing both medical and lifestyle factors.

One typical syndromic condition that can result in infertility is Turner syndrome. Turner syndrome is a chromosomal disorder that affects females, characterized by the absence of all or part of one of the X chromosomes. This can lead to ovarian failure and premature menopause, resulting in infertility (2).

Klinefelter syndrome is another chromosomal disorder that affects males, characterized by the presence of an extra X chromosome. This can lead to reduced fertility, as well as other reproductive and developmental issues (3).

In addition to chromosomal disorders, other syndromic conditions can also impact fertility in childhood. For example, congenital adrenal hyperplasia (CAH) is an inherited disorder that affects the adrenal gland's ability to produce cortisol. This can lead to reduced fertility in both males and females due to abnormalities in the reproductive system (4).

Prader-Willi syndrome is another condition that can impact fertility. This genetic disorder is characterized by obesity, developmental delay, and other physical and behavioral issues. In males, this syndrome can lead to hypogonadism and infertility, while females may experience early onset of puberty and irregular 

 

menstrual cycles (5).

The management of syndromic conditions that impact fertility requires a multidisciplinary approach, involving specialists in endocrinology, reproductive medicine, and genetics. Treatments may include hormone therapy, assisted reproductive technologies, and genetic counseling (6).

In conclusion, syndromic conditions that present in childhood can impact fertility and contribute to infertility in adulthood. Early identification and management of these conditions can help to improve outcomes and increase the chances of successful conception.

With advances in reproductive technology, there are now more options available for individuals with syndromic conditions that impact fertility. For example, in vitro fertilization (IVF) with preimplantation genetic testing (PGT) can be used to screen for genetic abnormalities before implantation, increasing the chances of a successful pregnancy (7).

In some cases, fertility preservation may also be an option for individuals with syndromic conditions that may impact fertility later in life. For example, for individuals with CAH, surgical interventions such as ovarian tissue cryopreservation can help to preserve fertility for future use (8).

However, it is important to note that not all individuals with syndromic conditions may desire or be candidates for fertility treatments. It is crucial to consider the individual's personal preferences and overall health status when making decisions about fertility management.

In addition to medical interventions, it is also important to provide support for individuals with syndromic conditions that impact fertility. This may include counseling and education on reproductive health and family planning, as well as emotional support and resources for coping with the challenges of infertility (9).

In addition to medical and emotional support, advocacy for individuals with syndromic conditions that impact fertility is also important. This includes advocating for increased access to reproductive technology and insurance coverage for fertility treatments, as well as promoting awareness and understanding of the challenges faced by individuals with these conditions.

It is also important to continue research in the field of syndromic conditions and fertility, to better understand the mechanisms and underlying causes of infertility in these populations. This can help to inform the development of new treatments and interventions to improve outcomes and quality of life for individuals with these conditions.

Finally, education and awareness-raising efforts can help to reduce the stigma and discrimination faced by individuals with syndromic conditions that impact fertility. By promoting understanding and acceptance, we can help to ensure that all individuals have access to the care and support they need to achieve their reproductive goals.

Overall, managing infertility in individuals with syndromic conditions requires a comprehensive and personalized approach, taking into account the individual's unique needs and circumstances. With advances in technology and research, we can continue to improve outcomes and quality of life for these individuals, while also promoting greater understanding and acceptance in society at large.

By providing individuals with the support and resources they need to make informed decisions about their reproductive health, we can help to improve outcomes and quality of life for individuals with these conditions.

Top of Form

We can conclude that some syndromic conditions in childhood have significant impacts on fertility and reproductive health. With advances in reproductive technology and medical interventions, there are now more options available for managing infertility in individuals with these conditions. However, it is important to approach fertility management with a holistic and individualized perspective, taking into account the individual's personal preferences and overall health status.

References

  1. Practice Committee of the American Society for Reproductive Medicine. (2006). Current evaluation of amenorrhea. Fertility and Sterility, 86(5), S148-S155.
  2. Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., ... & International Turner Syndrome Consensus Group. (2017). Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European Journal of Endocrinology, 177(3), G1-G70.
  3. Wong, M., Paschal, C. R., & Bozarth, X. (2019). Diagnosing Coexisting Conditions of Angelman and Klinefelter Syndromes Using Chromosomal Microarray. Journal of Pediatric Neurology, 17(03), 118-122.
  4. Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., ... & White, P. C. (2010). Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. The Journal of Clinical Endocrinology & Metabolism, 95(9), 4133-4160.
  5. Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012). Prader-Willi syndrome. Genetics in medicine, 14(1), 10-26.
  6. Man, L., Lustgarten Guahmich, N., Vyas, N., Tsai, S., Arazi, L., Lilienthal, D., ... & James, D. (2022). Ovarian reserve disorders, can we prevent them? A review. International Journal of Molecular Sciences, 23(23), 15426.
  7. De Rycke M, Belva F, Goossens V, et al. Preimplantation genetic diagnosis. The Lancet. 2018;392(10142):207-218.
  8. Pina-Aguilar RE, Lopez-Tinoco C, Garcia- Hernandez E. Ovarian tissue cryopreservation in patients with congenital adrenal hyperplasia. Endocrinology, Diabetes & Metabolism Case Reports. 2016; 2016:150137.
  9. Hammarberg K, Kirkman M, Stern C, et al. Fertility-related information and support needs of women with a genetic or chronic medical condition: a systematic review. Human Reproduction Update. 2014;20(4):666-685.

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