nach oben

Gynäkologie in der Praxis

Erschienen in:

07.02.2024 | Originalien

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

verfasst von: Priyanka Sanghavi, Divya Chandel

Erschienen in: Gynäkologie in der Praxis | Ausgabe 1/2024

Einloggen, um Zugang zu erhalten

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.

Vorheriger Artikel Der Haftungsfall – der Prozess

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

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

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

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/B978-0-12-383834-6.00040-9CrossRef

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

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

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):e40040ADSPubMedPubMedCentralCrossRef

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

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):333–338PubMedCrossRef

10.

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

11.

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

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):105–111PubMedPubMedCentral

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):268–271CrossRef

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):405–414PubMedCrossRef

15.

Hui LL, Lam HS, Leung GM, Schooling CM (2017) Duration of puberty in preterm girls. American J Hum Biol 29(4):e22963CrossRef

16.

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

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):2624–2626PubMedCrossRef

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):575–577PubMedCrossRef

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):1–10CrossRef

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):161–174CrossRef

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):349–358PubMedCrossRef

22.

Sumida MF, Becker D, Chung J, Martinez E, Templeman C (2021) Characterizing primary amenorrhea in a large diverse cohort. Fertil Steril 116(3):e98CrossRef

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):313–332PubMedCrossRef

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–R242PubMedCrossRef

25.

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

26.

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

27.

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

28.

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

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):401–407CrossRef

30.

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

31.

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

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):209–223PubMedCrossRef

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):158–166CrossRef

35.

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

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):63–66CrossRef

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

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):629–637PubMedCrossRef

41.

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

42.

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

43.

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

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

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):427–433PubMedCrossRef

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):29PubMedPubMedCentralCrossRef

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):2276–2286CrossRef

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):634–640PubMedCrossRef

49.

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

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):25–31CrossRef

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):71–76CrossRef

52.

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

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):511–516CrossRef

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

55.

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

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):106CrossRef

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):635–643PubMedCrossRef

58.

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

59.

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

60.

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

61.

Practice Committee of the American Society for Reproductive Medicine (2006) Current evaluation of amenorrhea. Fertil Steril 86(5):S148–S155CrossRef

62.

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

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):719–720PubMedCrossRef

Titel: Assessment of Cytogenetic Findings and Risk Factors in Females with Primary Amenorrhea
verfasst von: Priyanka Sanghavi
Divya Chandel
Publikationsdatum: 07.02.2024
Verlag: Springer Vienna
Erschienen in: Gynäkologie in der Praxis / Ausgabe 1/2024
Print ISSN: 3005-0758
Elektronische ISSN: 3005-0766
DOI: https://doi.org/10.1007/s41974-024-00297-y

Springer Medizin Österreich

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 1/2024

Erste Leitlinie zu nicht-hormoneller Empfängnisverhütung

Mondphasen und Wochenrhythmen beeinflussen den weiblichen Zyklus

Der Haftungsfall – der Prozess

Fezolinetant bei vasomotorischen Beschwerden

Uterustransplantation – wo stehen wir heute?

Mitteilungen der Österreichischen IVF-Gesellschaft