Menopause Review
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Menopause Review/Przegląd Menopauzalny
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Identification of a novel missense mutation (L233Q) in the AMH gene in a polycystic ovary syndrome patient from Assam, India

Adity Paul
1
,
Surya Prakash Goud Ponnam
1
,
Sumita Gogoi Hazarika
2, 3
,
Juri Khanikar
4

  1. Department of Molecular Biology and Biotechnology, School of Sciences, Tezpur University, Napaam, Sonitpur, Assam, India
  2. Dorika Hospital, Nikamul, Tezpur, Sonitpur, Assam, India
  3. Gogoi Nursing Home, Joymoti Pathar, Tezpur, Assam, India
  4. Matrikas IVF Centre, Hatigarh Chariali, Guwahati, Assam, India
Menopause Rev 2026; 25(1):
Online publish date: 2026/05/15
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1. Bulsara J, Patel P, Soni A, Acharya S. A review: brief insight into polycystic ovarian syndrome. Endocrin Metab Sci 2021; 3: 100085.
2. Lentscher JA, AH Decherney. Clinical presentation and diagnosis of polycystic ovarian syndrome. Clin Obstet Gynecol 2021; 64: 3-11.
3. Ganie MA, Chowdhury S, Malhotra N, Sahay R, Bhattacharya PK, Agrawal S, et al. Prevalence, phenotypes, and comorbidities of polycystic ovary syndrome among Indian women. JAMA Netw Open 2024; 7: e2440583.
4. Rababa’h AM, Matani BR, Yehya A. An update of polycystic ovary syndrome: causes and therapeutics options. Heliyon 2022; 8: e11010.
5. Kim HJ, Kim EH, Ko E, Park S, Lee Y. The impact of polycystic ovary syndrome on gestational diabetes mellitus, disease knowledge, and health behaviors. Healthcare 2025; 13: 717.
6. Helvaci N, Yildiz BO. Polycystic ovary syndrome as a metabolic disease. Nat Rev Endocrinol 2025; 21: 230-244.
7. Zawadski J, Dunaif A. Polycystic ovary syndrome: diagnostic criteria for polycystic ovarian syndrome: towards a rational approach. Blackwell, Boston 1992.
8. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod 2004; 19: 41-47.
9. Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, et al. Positions statement: criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: an Androgen Excess Society guideline. J Clin Endocrinol Metab 2006; 91: 4237-4245.
10. Khan MJ, Ullah A, Basit S. Genetic basis of polycystic ovary syndrome (PCOS): current perspectives. Appl Clin Genet 2019; 12: 249-260.
11. Ajmal N, Khan SZ, Shaikh R. Polycystic ovary syndrome (PCOS) and genetic predisposition: a review article. Eur J Obst Gynecol Reprod Biol 2019; 3: 100060.
12. Dewailly D, Barbotin AL, Dumont A, Catteau-Jonard S, Robin G. Role of anti-Müllerian hormone in the pathogenesis of polycystic ovary syndrome. Front Endocrinol (Lausanne) 2020; 11: 641.
13. Cate RL, Mattaliano RJ, Hession C, Tizard R, Farber NM, Cheung A,  et al. Isolation of the bovine and human genes for Müllerian inhibiting substance and expression of the human gene in animal cells. Cell 1986; 45: 685-698.
14. Gowkielewicz M, Lipka A, Zdanowski W, Waśniewski T, Majewska M, Carlberg C. Anti-Müllerian hormone: biology and role in endocrinology and cancers. Front Endocrinol 2024; 15: 2024.
15. Ran Y, Yi Q, Li C. The relationship of anti-Mullerian hormone in polycystic ovary syndrome patients with different subgroups. Diabetes Metab Syndr Obes 2021; 14: 1419-1424.
16. Chen M,  Guo X, Zhong Y, Liu Y, Cai B, Wu R, et al. AMH inhibits androgen production in human theca cells. J Steroid Biochem Mol Biol 2023; 226: 106216.
17. Garg D, Tal R. The role of AMH in the pathophysiology of polycystic ovarian syndrome. Reprod Biomed Online 2016; 33: 15-28.
18. Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Research 2012; 40: W452-W457.
19. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 2013; 7: Unit7.20.
20. Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB. In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat 2008; 29: 1327-1336.
21. Steinhaus R, Proft S, Schuelke M, Cooper DN. MutationTaster2021. Nucleic Acids Res 2021; 49: W446-w451.
22. Capriotti E, Fariselli P, Casadio R. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res 2005; 33: W306-10.
23. Lee MM, Donahoe PK, Hasegawa T, Silverman B, Crist GB, Best S, et al. Mullerian inhibiting substance in humans: normal levels from infancy to adulthood. J Clin Endocrinol Metab 1996; 81: 571-576.
24. Verma AK, Rajbhar S, Mishra J, Gupta M, Sharma M, Deshmukh G,  et al. Anti-Mullerian hormone: a marker of ovarian reserve and its association with polycystic ovarian syndrome. J Clin Diagn Res 2016; 10: Qc10-qc12.
25. Durlinger AL,  Gruijters MJG, Kramer P, Karels B, Ingraham HA, Nachtigal MW, et al. Anti-Müllerian hormone inhibits initiation of primordial follicle growth in the mouse ovary. Endocrinology 2002; 143: 1076-1084.
26. Silva MSB, Giacobini P. New insights into anti-Müllerian hormone role in the hypothalamic-pituitary-gonadal axis and neuroendocrine development. Cell Mol Life Sci 2021; 78: 1-16.
27. Cimino I, Casoni F, Liu X, Messina A, Parkash J, Jamin SP, et al. Novel role for anti-Müllerian hormone in the regulation of GnRH neuron excitability and hormone secretion. Nat Commun 2016; 7: 10055.
28. Barbotin AL, El Houda Mimouni N, Kuchcinski G, Lopes R, Viard R, Rasika S,  et al. Hypothalamic neuroglial plasticity is regulated by anti-Müllerian hormone and disrupted in polycystic ovary syndrome. EBioMedicine 2023; 90: 104535.
29. Georgopoulos NA, Karagiannidou E, Koika V, Roupas ND, Armeni A, Marioli D, et al. Increased frequency of the anti-mullerian-inhibiting hormone receptor 2 (AMHR2) 482 A>G polymorphism in women with polycystic ovary syndrome: relationship to luteinizing hormone levels. J Clin Endocrinol Metab 2013; 98: E1866-1870.
30. Gorsic LK, Kosova G, Werstein B, Sisk R, Legro RS, Geoffrey Hayes M, et al. Pathogenic anti-Müllerian hormone variants in polycystic ovary syndrome. J Clin Endocrinol Metab 2017; 102: 2862-2872.
31. Gorsic LK, Dapas M, Legro RS, Hayes MG, Urbanek M. Functional genetic variation in the anti-Müllerian hormone pathway in women with polycystic ovary syndrome. J Clin Endocrinol Metab 2019; 104: 2855-2874.
32. Godin P, Nagykery N, Sicher N, Barnes JL, Miller AG, Bunner C, et al. Gene therapy delivery of anti-Müllerian hormone in prepubertal female domestic cats induces long-term sterilization. Nat Commun 2025; 16: 10747.
33. Racine C, Fraissinet F, Tolu S, Pereira T, Gil S, Badel A, et al., A blocking antibody against anti-Müllerian hormone restores ovulation and normal androgen levels in a spontaneous rat model of polycystic ovary syndrome. EBioMedicine 2025; 115: 105716.
34. Kevenaar ME, Laven JSE, Fong SL, Uitterlinden AG, de Jong FH, Themmen APN, et al. A functional anti-mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients. J Clin Endocrinol Metab 2008; 93: 1310-6.
35. Zheng MX, Li Y, Hu R, Wang FM, Zhang XM, Guan B. Anti-Müllerian hormone gene polymorphism is associated with androgen levels in Chinese polycystic ovary syndrome patients with insulin resistance. J Assist Reprod Genet 2016; 33: 199-205.
36. Moolhuijsen LME, Louwers YV, McLuskey A, Broer L, Uitterlinden AG, Verdiesen RMG, et al. Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients. Hum Reprod 2022; 37: 1544-1556.
37. Howard JA, Hok L, Cate RL, Sanford NJ, Hart KN, Leach EAE, et al. A divergent two-domain structure of the anti-Müllerian hormone prodomain. Proc Natl Acad Sci U S A 2025; 122: e2418088122.
38. Howard JA, Hart KN, Thompson TB. Molecular mechanisms of AMH signaling. Front Endocrinol (Lausanne) 2022; 13: 927824.
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