SpringerLink
Log in

Assessment of Cytogenetic Findings and Risk Factors in Females with Primary Amenorrhea

Bewertung zytogenetischer Befunde und Risikofaktoren bei Frauen mit primärer Amenorrhoe

  • Originalien
  • Published:
Gynäkologie in der Praxis Aims and scope

Abstract

Primary amenorrhea (PA) is a heterogenous condition with multifactorial etiologies and cannot be established with single diagnostic criterion. We have attempted to assess several factors and found significant association of body mass index, birth history, lifestyle factors like addiction habits, maternal history of proband; family history of consanguinity, amenorrhea and menstrual cycle; serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), thyroid-stimulating hormone (TSH), prolactin, estrogen, progesterone and testosterone with PA when compared with age-matched control females. Chromosomal abnormalities like Turner syndrome, presence of Y chromosome, Turner mosaics, Xp deletion, isochromosome X, and normal variants in PA females were observed. Chromosomal abnormalities were significantly associated with development of secondary sexual characters (SSCs) and ovaries in PA females. This study will help clinicians to understand the exact etiology and identify the best treatment option to improve of life of female patients and their families.

Zusammenfassung

Die primäre Amenorrhoe (PA) ist eine heterogene Erkrankung mit multifaktoriellen Ursachen und kann nicht durch ein einziges diagnostisches Kriterium erfasst werden. Wir versuchten, verschiedene Faktoren zu evaluieren, und fanden eine signifikante Assoziation von Body-Mass-Index, Geburtsgeschichte, Lebensstilfaktoren wie Suchtverhalten, mütterliche Anamnese der Patientin, familiäre Anamnese von Blutsverwandtschaft, Amenorrhoe und Menstruationszyklus sowie Serumspiegel von FSH, LH, TSH, Prolaktin, Östrogen, Progesteron und Testosteron bei Frauen mit PA im Vergleich zu gleichaltrigen Kontrollen. Chromosomenanomalien wie das Turner-Syndrom, das Vorhandensein eines Y‑Chromosoms, Turner-Mosaike, Xp-Deletion, Isochromosom X und normale Varianten wurden bei Frauen mit PA beobachtet. Chromosomenanomalien waren signifikant mit der Entwicklung der sekundären Geschlechtsmerkmale und Ovarien bei betroffenen Frauen assoziiert. Diese Studie soll helfen, die genaue Ätiologie zu verstehen und die besten Behandlungsoptionen zu finden, um das Leben der Frauen und ihrer Familien zu verbessern.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

BMI:

Body mass index

FSH:

Follicle-stimulating hormone

LH:

Luteinizing hormone

MD:

Mullerian duct

MRKH:

Mayer–Rokitansky–Küster–Hauser syndrome

PA:

Primary amenorrhea

POF:

Premature ovarian failure

SSCs:

Secondary sexual characteristics

TSH:

Thyroid-stimulating hormone

References

  1. Basak S, Prakash A (2013) Investigation and treatment of primary amenorrhoea. Obstet Gynaecol Reproductive Med 23(12):364–369

    Article  Google Scholar 

  2. Rajangam S, Nanjappa L (2007) Cytogenetic studies in amenorrhea. SMJ 28(2):187

    Google Scholar 

  3. Lobo RA (2007) Primary and secondary amenorrhea and precocious puberty: etiology, diagnostic evaluation, management. Comprehensive gynecology, 5th edn. Mosby, St Louis, MO

    Google Scholar 

  4. Bhagavath B, Layman LC (2013) Genetics of female infertility in humans. In: emery and Rimoin’s principles and practice of medical genetics, pp 1–24 https://doi.org/10.1016/B978-0-12-383834-6.00040-9

    Book  Google Scholar 

  5. Wasnik V, Rao S, Rao D (2012) A study of the health status of early adolescent girls residing in social welfare hostels in Vizianagaram district of Andhra Pradesh state, India. Int J Collab Res Intern Med Public Health 4(1):72–83

    Google Scholar 

  6. Dharmade PN, Kale DMP (2017) Effect of nutrition education on anthropometric measurements of adolescent girls

    Google Scholar 

  7. Metgud CS, Naik VA, Mallapur MD (2012) Factors affecting birth weight of a newborn—a community based study in rural Karnataka, India. PLoS ONE 7(7):e40040

    Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

  8. Rathod P, Patel T, Desai A, Chandel D (2020) Socioeconomic, biological and genetic factors influencing preterm birth. Asian Pac J Reproduction 9(5):215

    Article  CAS  Google Scholar 

  9. Hungerford DA (1965) Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl. Stain Technol 40(6):333–338

    Article  CAS  PubMed  Google Scholar 

  10. Seabright M (1971) A rapid banding technique for human chromosomes. Lancet 2:971–972

    Article  CAS  PubMed  Google Scholar 

  11. Golden NH, Carlson JL (2008) The pathophysiology of amenorrhea in the adolescent. Ann NY Acad Sci 1135(1):163–178

    Article  ADS  PubMed  Google Scholar 

  12. Dambhare DG, Wagh SV, Dudhe JY (2012) Age at menarche and menstrual cycle pattern among school adolescent girls in central India. Glob J Health Sci 4(1):105–111

    PubMed  PubMed Central  Google Scholar 

  13. Koziel S, Jankowska E (2002) Effect of low versus normal birthweight on menarche in 14-year-old Polish girls. J Paediatrics Child Health 38(3):268–271

    Article  CAS  Google Scholar 

  14. Sir-Petermann T, Hitchsfeld C, Codner E, Maliqueo Μ, Iñiguez G, Echiburú B et al (2007) Gonadal function in low birth weight infants: a pilot study. J Pediatr Endocrinol Metab 20(3):405–414

    Article  CAS  PubMed  Google Scholar 

  15. Hui LL, Lam HS, Leung GM, Schooling CM (2017) Duration of puberty in preterm girls. American J Hum Biol 29(4):e22963

    Article  Google Scholar 

  16. Hui LL, Leung GM, Lam TH, Schooling CM (2012) Premature birth and age at onset of puberty. Epidemiology 23(3):415–422

    Article  PubMed  Google Scholar 

  17. Ibáñez L, Potau N, de Zegher F (2000) Ovarian hyporesponsiveness to follicle stimulating hormone in adolescent girls born small for gestational age. J Clin Endocrinol Metab 85(7):2624–2626

    Article  PubMed  Google Scholar 

  18. Ibáñez L, Potau N, Enriquez G, De Zegher F (2000) Reduced uterine and ovarian size in adolescent girls born small for gestational age. Pediatr Res 47(5):575–577

    Article  PubMed  Google Scholar 

  19. Kedar R, Chandel D (2019) MTHFR gene polymorphism and associated nutritional deficiency in the etiology and pathogenesis of down syndrome. Egypt J Med Hum Genet 20(1):1–10

    Article  Google Scholar 

  20. Rathod P, Desai A, Chandel D (2022) Evaluation of risk factors for preterm birth outcome in Gujarat, India. Int J Health Sci Res 12(1):161–174

    Article  Google Scholar 

  21. Smits LJ, Zielhuis GA, Jongbloet PH, Van Poppel FW (2002) Mother’s age and daughter’s fecundity. An epidemiological analysis of late 19th to early 20th century family reconstitutions. Int J Epidemiol 31(2):349–358

    Article  PubMed  Google Scholar 

  22. Sumida MF, Becker D, Chung J, Martinez E, Templeman C (2021) Characterizing primary amenorrhea in a large diverse cohort. Fertil Steril 116(3):e98

    Article  Google Scholar 

  23. Evans JJ, Anderson GM (2012) Balancing ovulation and anovulation: integration of the reproductive and energy balance axes by neuropeptides. Hum Reprod Update 18(3):313–332

    Article  CAS  PubMed  Google Scholar 

  24. Seppä S, Kuiri-Hänninen T, Holopainen E, Voutilainen R (2021) Management of endocrine disease: diagnosis and management of primary amenorrhea and female delayed puberty. Eur J Endocrinol 184(6):R225–R242

    Article  PubMed  Google Scholar 

  25. Master-Hunter T, Heiman DL (2006) Amenorrhea: evaluation and treatment. Am Fam Physician 73(8):1374–1382

    PubMed  Google Scholar 

  26. Panay N, Kalu E (2009) Management of premature ovarian failure. Best Pract Res Clin Obstet Gynaecol 23(1):129–140

    Article  PubMed  Google Scholar 

  27. Kokcu A (2010) Premature ovarian failure from current perspective. Gynecol Endocrinol 26(8):555–562

    Article  PubMed  Google Scholar 

  28. Sinha P, Kuruba N (2007) Premature ovarian failure. J Obstet Gynaecol 27(1):16–19

    Article  CAS  PubMed  Google Scholar 

  29. Wang H, Chen H, Qin Y, Shi Z, Zhao X, Xu J et al (2015) Risks associated with premature ovarian failure in Han Chinese women. Reprod Biomed 30(4):401–407

    Article  Google Scholar 

  30. Hayden CJ, Balen AH (2007) Primary amenorrhoea: investigation and treatment. Obstet Gynaecol Reprod Med 17(7):199–204

    Article  Google Scholar 

  31. Eggert J, Theobald H, Engfeldt P (2004) Effects of alcohol consumption on female fertility during an 18-year period. Fertil Steril 81(2):379–383

    Article  PubMed  Google Scholar 

  32. Homan GF, Davies M, Norman R (2007) The impact of lifestyle factors on reproductive performance in the general population and those undergoing infertility treatment: a review. Hum Reprod Update 13(3):209–223

    Article  CAS  PubMed  Google Scholar 

  33. Sanghavi P, Savsaiya B, Patel H, Patel K, Chandel D (2022) Factors affecting female infertility in the population of Gujarat (India): a comprehensive study. J Gynäkol Endokrinol AT: 1–8

  34. Anitha G, Tejeswini K, Shivamurthy G (2015) A clinical study of primary amenorrhea. J South asian Fed Obstet Gynaecol 7(3):158–166

    Article  Google Scholar 

  35. Overton CE, Davies MC (1999) Factors which determine the age of the menopause. Br Menopause Soc J 5(2):83–86

    Article  Google Scholar 

  36. Torgerson DJ, Thomas RE, Reid DM (1997) Mothers and daughters menopausal ages: is there a link? Eur J Obstet Gynecol Reproductive Biol 74(1):63–66

    Article  CAS  Google Scholar 

  37. Khan AT, Shehmar M, Gupta JK (2014) Uterine fibroids: current perspectives. Int J Women’s Health: 95–114

  38. Majumder P, Ghosh S, Dey S (2015) Association between primary amenorrhea and early maternal age: a population study. Indian J Sci Technol

  39. Prakash R, Singh A, Pathak PK, Parasuraman S (2011) Early marriage, poor reproductive health status of mother and child well-being in India. BMJ Sex Reprod Heal 37(3):136–145

    Google Scholar 

  40. Thomsen AML, Ramlau-Hansen CH, Olsen J, Brix N, Andersen AMN, Lunddorf LLH et al (2022) The influence of parental age on timing of puberty: a study in the Danish national birth cohort. Scand J Public Health 50(5):629–637

    Article  PubMed  Google Scholar 

  41. Smits LJ, Willemsen WNP, Zielhuis GA, Jongbloet PH (1997) Conditions at conception and risk of menstrual disorders. Epidemiology 8(5):524–529

    Article  CAS  PubMed  Google Scholar 

  42. Vander Borght M, Wyns C (2018) Fertility and infertility: definition and epidemiology. Clin Biochem 62:2–10

    Article  PubMed  Google Scholar 

  43. Amudha S, Aruna N, Rajangam S (2005) Consanguinity and chromosomal abnormality. Indian J Hum Genet 11(2):8–110

    Google Scholar 

  44. Kalpana VL, Priya BD, Pathi TL, Sridevi S, Ramesh M (2007) A study on primary amenorrhea. Ind J Multi Res 3(2):209–222

    Google Scholar 

  45. Seher T, Thiering E, Al Azemi M, Heinrich J, Schmidt-Weber CB, Kivlahan C et al (2015) Is parental consanguinity associated with reduced ovarian reserve? Reprod Biomed Online 31(3):427–433

    Article  CAS  PubMed  Google Scholar 

  46. Pal A, Ambulkar P, Sontakke B, Talhar S, Bokariya P, Gujar V (2019) A study on chromosomal analysis of patients with primary amenorrhea. J Hum Reprod Sci 12(1):29

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  47. Herlin M, Højland AT, Petersen MB (2014) Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: a case report and review of the literature. Am J Med Genet A 164(9):2276–2286

    Article  CAS  Google Scholar 

  48. Gervasini C, Grati FR, Lalatta F, Tabano S, Gentilin B, Colapietro P et al (2010) SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. Genet Med 12(10):634–640

    Article  PubMed  Google Scholar 

  49. KC ST, Cunjian Y (2017) Mayer rokitansky kuster hauser syndrome—a review article. IJSIT 6(5):553–561

    Google Scholar 

  50. Malla TM, Dar FA, Pandith AA, Zargar MH (2016) Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India. Egypt J Med Hum Genet 17(1):25–31

    Article  Google Scholar 

  51. Vijayalakshmi J, Koshy T, Kaur H, Mary FA, Selvi R, Parvathi VD et al (2010) Cytogenetic analysis of patients with primary amenorrhea. Int J Hum Genet 10(1–3):71–76

    Article  Google Scholar 

  52. Wong M, Lam S (2005) Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: retrospective study. Hong Kong Med J 11:267–272

    CAS  PubMed  Google Scholar 

  53. Multani AS, Shah VC, Singh D, Chakravarty N, Chinoy NJ, Pathak S (1997) Deletion/inversion in the X‑chromosome and increased telomeric associations in a female with primary amenorrhea. Braz J Genet 20(3):511–516

    Article  Google Scholar 

  54. Korgaonkar S, Dhangar S, Kulkarni V, Kerketta L, Vundinti BR (2018) Clinical and cytogenetic profile of 490 cases of primary amenorrhea. J Med Sci Clin Res 6:487–494

    Google Scholar 

  55. Sultan C, Biason-Lauber A, Philibert P (2009) Mayer–Rokitansky–Kuster–Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol 25(1):8–11

    Article  CAS  PubMed  Google Scholar 

  56. Mayuri J, Vasudha N, Vijay G, Asha PJP (2014) Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: a case report. J Res Med Den Sci 2(1):106

    Article  Google Scholar 

  57. Cordts EB, Christofolini DM, Dos SAA, Bianco B, Barbosa CP (2011) Genetic aspects of premature ovarian failure: a literature review. Arch Gynecol Obstet 283(3):635–643

    Article  PubMed  Google Scholar 

  58. Turner HH (1938) A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23(5):566–574

    Article  Google Scholar 

  59. Fazeli P, Nachtigall LB (2010) Hyperprolactinemia and pituitary causes of amenorrhea. Springer, Amenorrhea, pp 83–100

    Google Scholar 

  60. Kallepalli P, Kallepalli D (2019) A study of primary amenorrhea cases in north coastal Andhra Pradesh. Ment Retard 2:3–44

    Google Scholar 

  61. Practice Committee of the American Society for Reproductive Medicine (2006) Current evaluation of amenorrhea. Fertil Steril 86(5):S148–S155

    Article  Google Scholar 

  62. Marsh CA, Grimstad FW (2014) Primary amenorrhea: diagnosis and management. Obstet Gynecol Surv 69(10):603–612

    Article  PubMed  Google Scholar 

  63. Gleicher N, Kushnir VA, Barad DH (2018) Impact of androgen supplementation on the follicular endocrine milieu in women with hypoandrogenism. Reprod Biomed Online 36(6):719–720

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Zoology, BioMedical Technology and Human Genetics, School of Sciences, Gujarat University, 380009, Navrangpura, Ahmedabad, India

    Priyanka Sanghavi & Divya Chandel

Authors
  1. Priyanka Sanghavi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Divya Chandel
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

D. Chandel designed the study. P. Sanghavi drafted the manuscript. All the authors equally contributed to the result interpretation and manuscript revision.

Corresponding author

Correspondence to Divya Chandel.

Ethics declarations

Conflict of interest

P. Sanghavi and D. Chandel declare that they have no competing interests.

All procedures performed in studies involving human participants or on human tissue were in accordance with the ethical standards of the institutional and/or national research committee and with the 1975 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

figure qr

Scan QR code & read article online

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Sanghavi, P., Chandel, D. Assessment of Cytogenetic Findings and Risk Factors in Females with Primary Amenorrhea. Gynäkol. Prax. 34, 36–46 (2024). https://doi.org/10.1007/s41974-024-00297-y

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s41974-024-00297-y

Keywords

Schlüsselwörter

Search

Navigation