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Rumyantseva Z.S.

Crimean Federal University named after V.I. Vernadsky

Sulima A.N.

Crimean Federal University named after V.I. Vernadsky

Miklin O.P.

Crimean Federal University named after V.I. Vernadsky

Gudz O.V.

Crimean Federal University named after V.I. Vernadsky

Yermachkova P.A.

Crimean Federal University named after V.I. Vernadsky

Kallmann syndrome in the practice of an obstetrician-gynecologist

Authors:

Rumyantseva Z.S., Sulima A.N., Miklin O.P., Gudz O.V., Yermachkova P.A.

More about the authors

Journal: Russian Journal of Human Reproduction. 2024;30(4): 106‑111

Read: 1243 times


To cite this article:

Rumyantseva ZS, Sulima AN, Miklin OP, Gudz OV, Yermachkova PA. Kallmann syndrome in the practice of an obstetrician-gynecologist. Russian Journal of Human Reproduction. 2024;30(4):106‑111. (In Russ.)
https://doi.org/10.17116/repro202430041106

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References:

  1. Eneva NG, Nefedova LN, Loktionova AS, Ilovayskaya IA, Kim AI. The role of genetic factors in the pathogenesis of hypogonadotropic hypogonadism. Problemy’ e’ndokrinologii. 2014;60(6):38-44. (In Russ.). https://doi.org/10.14341/probl201460638-44
  2. Aristiady EB, Alberta D. A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report. The Pan African Medical Journal. 2022;43:67.  https://doi.org/10.11604/pamj.2022.43.67.36802
  3. Bry-Gauillard H, Larrat-Ledoux F, Levaillant JM, Massin N, Maione L, Beau I, Binart N, Chanson P, Brailly-Tabard S, Hall JE, Young J. Anti-Müllerian Hormone and Ovarian Morphology in Women with Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH. The Journal of Clinical Endocrinology and Metabolism. 2017;102(4):1102-1111. https://doi.org/10.1210/jc.2016-3799
  4. Stamou MI, Georgopoulos NA. Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. Metabolism. 2018;86:124-134.  https://doi.org/10.1016/j.metabol.2017.10.012
  5. Chevrier L, Guimiot F, de Roux N. GnRH receptor mutations in isolated gonadotropic deficiency. Molecular and Cellular Endocrinology. 2011;346(1-2):21-28.  https://doi.org/10.1016/j.mce.2011.04.018
  6. Butz H, Nyírő G, Kurucz PA, Likó I, Patócs A. Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice. Human Genetics. 2021;140(1):113-134.  https://doi.org/10.1007/s00439-020-02148-0
  7. Bonomi M, Vezzoli V, Krausz C, Guizzardi F, Vezzani S, Simoni M, Bassi I, Duminuco P, Di Iorgi N, Giavoli C, Pizzocaro A, Russo G, Moro M, Fatti L, Ferlin A, Mazzanti L, Zatelli MC, Cannavò S, Isidori AM, Pincelli AI, Prodam F, Mancini A, Limone P, Tanda ML, Gaudino R, Salerno M, Francesca P, Maghnie M, Maggi M, Persani L; Italian Network on Central Hypogonadism; Italian Network on Central Hypogonadism (NICe group). Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH). European Journal of Endocrinology. 2018;178(1):23-32.  https://doi.org/10.1530/EJE-17-0065
  8. Kudabaeva HI, Kardanova MZh, Abisheva AS, Akhmetova RB. Kallmann syndrome (olfactogenital dysplasia) in women in the practice of an endocrinologist. Medicinskii zhurnal Zapadnogo Kazaxstana. 2018;57(1):33-47. (In Russ.).
  9. Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism. The American Journal of Human Genetics. 2013;92(5):725-743.  https://doi.org/10.1016/j.ajhg.2013.04.008
  10. Loktionova AS, Yanova NG, Khusniarova KA, Nefedova LN, Kim AI, Dreval AV, Ilovayskaya IA. Analysis of gene expression responsible for the development of idiopathic hypogonadotropic hypogonadism. Problemy’ e’ndokrinologii. 2016;62(5):40-40. (In Russ.). https://doi.org/10.14341/probl201662540-41
  11. Quaynor SD, Bosley ME, Duckworth CG, Porter KR, Kim SH, Kim HG, Chorich LP, Sullivan ME, Choi JH, Cameron RS, Layman LC. Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Molecular and Cellular Endocrinology. 2016;437:86-96.  https://doi.org/10.1016/j.mce.2016.08.007
  12. https://doi.org/10.14341/probl12746  https://doi.org/10.14341/probl12746
  13. Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nature Genetic. 2003;33(4):463-465.  https://doi.org/10.1038/ng1122
  14. Gerasimova MV, Kalinichenko NYu, Vasiliev EV, Petrov VM, Tulpakov AN. A family case of normosmic hypogonadotropic hypogonadism in combination with polydactyly associated with FGFR1 gene defect. Problemy’ e’ndokrinologii. 2018;64(1):38-41. (In Russ). https://doi.org/10.14341/probl8706
  15. Beylerli OA, Gareev IF, Beylerli AT. MicroRNAs as new players in the control of hypothalamus functions. Kreativnaya xirurgiya i onkologiya. 2019;9(2):138-143. (In Russ.). https://doi.org/10.24060/2076-3093-2019-9-2-138-143
  16. Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WFJr, Pitteloud N. Reversal of idiopathic hypogonadotropic hypogonadism. The New England Journal of Medicine. 2007;357(9):863-873.  https://doi.org/10.1056/NEJMoa066494
  17. Meczekalski B, Podfigurna-Stopa A, Smolarczyk R, Katulski K, Genazzani AR. Kallmann syndrome in women: from genes to diagnosis and treatment. Gynecological Endocrinology. 2013;29(4):296-300.  https://doi.org/10.3109/09513590.2012.752459
  18. Hilman S, Dewi DK, Kartika E. A rare disease of Kallmann syndrome: A case report. Radiology case reports. 2023;18(3):1232-1238. https://doi.org/10.1016/j.radcr.2022.12.036.
  19. Young J, Xu C, Papadakis GE, Acierno JA, Maione L, Hietamäki J, Raivio T, Pitteloud N. Clinical management of congenital hypogonadotropic hypogonadism. Endocrine Reviews. 2019;40(2):669-710.  https://doi.org/10.1210/er.2018-00116
  20. Martin K, Santoro N, Hall J, Filicori M, Wierman M, Crowley WF Jr. Clinical review 15: Management of ovulatory disorders with pulsatile gonadotropin-releasing hormone. The Journal of Clinical Endocrinology and Metabolism. 1990;71(5):1081A-1081G. https://doi.org/10.1210/jcem-71-5-1081
  21. 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. Nature Reviews Endocrinology. 2015;11:547-564.  https://doi.org/10.1038/nrendo.2015.112

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