Resumen
El hipogonadismo hipogonadotrópico es un síndrome clínico de diversas etiologías congénitas o adquiridas, las cuales pueden o no causar amenorrea, ya sea primaria o secundaria, entre otros trastornos de la pubertad. La clasificación del hipogonadismo hipogonadotrópico abarca múltiples patologías que tienen en común una anormalidad en el eje hipotálamo-hipofisario que lleva a una poca o nula estimulación ovárica.
Entre las causas congénitas poco comunes se encuentran el síndrome de Kallman, las causas idiopáticas de las cuales se han ido reconociendo mutaciones puntuales como la del CHD7, las mutaciones en la subunidad beta de la hormona foliculoestimulante y la hormona luteinizante; y del receptor de la hormona liberadora de gonadotropina. Respecto a las causas adquiridas poco comunes de amenorrea por hipogonadismo hipogonadotrópico se encuentran la seudociesis, la hipofisitis linfocítica periparto, la enfermedad hepática crónica no alcohólica y la enfermedad renal crónica.
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Miller WL. The Hypothalamic-Pituitary-Adrenal Axis: A Brief History. Horm Res Paediatr. 2018;89(4):212-223. DOI: 10.1159/000487755. Epub 2018, May 2. PMID: 29719288.
Sugiarto AM, Soelistijo SA. A female with isolated hypogonadotropic hypogonadism: A case report and review article. Ann Med Surg (Lond). 2022, Jan 26;74:103289. DOI: 10.1016/j.amsu.2022.103289. PMID: 35145667; PMCID: PMC8818903.
Roberts RE, Farahani L, Webber L, Jayasena C. Current understanding of hypothalamic amenorrhoea. Ther Adv Endocrinol Metab. 2020, Jul 30;11:2042018820945854. DOI: 10.1177/2042018820945854. PMID: 32843957; PMCID: PMC7418467.
Kaur J, Walia R, Jain V, Bhansali A, Vatsa R, Siwatch S. Clinical indicators to define etiology in patients with primary amenorrhea: Lessons from a decade of experience. J Family Med Prim Care. 2020, Aug 25;9(8):3986-3990. DOI: 10.4103/jfmpc.jfmpc_85_20. PMID: 33110798; PMCID: PMC7586622.
Hoffman BL, Schorge JO, Halvorson LM, Hamid CA, Corton MM, Schaffer JI. Williams Gynecology. 4th edition, United States of America: McGraw-Hill Education, 2020. Section 2, chapter 17: Amenorrhea. Available from: https://accessmedicine.mhmedical.com/book.aspx?bookid=265
Smedlund KB, Hill JW. The role of non-neuronal cells in hypogonadotropic hypogonadism. Mol Cell Endocrinol. 2020, Dec 01;518:110996. DOI: 10.1016/j.mce.2020.110996. Epub 2020 Aug 26. PMID: 32860862.
Thakker S, Persily J, Najari BB. Kallman syndrome and central non-obstructive azoospermia. Best Pract Res Clin Endocrinol Metab. 2020, Dec;34(6):101475. DOI: 10.1016/j.beem.2020.101475. Epub 2020 Dec 1. PMID: 33419659.
Stamou MI, Georgopoulos NA. Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. Metabolism. 2018, Sep;86:124-134. DOI: 10.1016/j.metabol.2017.10.012. Epub 2017, Nov 3. PMID: 29108899; PMCID: PMC5934335.
Cangiano B, Swee DS, Quinton R, Bonomi M. Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease. Hum Genet. 2021, Jan;140(1):77-111. DOI: 10.1007/s00439-020-02147-1. Epub 2020, Mar 21. PMID: 32200437.
Viswanathan V, Eugster EA. Etiology and treatment of hypogonadism in adolescents. Pediatr Clin North Am. 2011, Oct;58(5):1181-200. DOI: 10.1016/j.pcl.2011.07.009. PMID: 21981955; PMCID: PMC4102132.
Nagdive AB, Bhainsora RS, Fernandes R, Behere PB, Sethi S. Pseudocyesis Leading to Folie-à-Deux. J Neurosci Rural Pract. 2021, Apr;12(2):419-423. DOI: 10.1055/s-0041-1726615. Epub 2021, Mar 24. PMID: 33927534; PMCID: PMC8064852.
Espiridion ED, Fleckenstein C, Boyle P, Oladunjoye AO. A Rare Case of Pseudocyesis in a Patient with Bipolar Disorder. Cureus. 2020, Sep 10;12(9):e10352. DOI: 10.7759/cureus.10352. PMID: 33062475; PMCID: PMC7549847.
Szeliga A, Kunicki M, Maciejewska-Jeske M, Rzewuska N, Kostrzak A, Meczekalski B, Bala G, Smolarczyk R, Adashi EY. The Genetic Backdrop of Hypogonadotropic Hypogonadism. Int J Mol Sci. 2021, Dec 08;22(24):13241. DOI: 10.3390/ijms222413241. PMID: 34948037; PMCID: PMC8708611.
Szymańska K, Kałafut J, Rivero-Müller A. The gonadotropin system, lessons from animal models and clinical cases. Minerva Ginecol. 2018, Oct;70(5):561-587. DOI: 10.23736/S0026-4784.18.04307-1. Epub 2018, Sep 26. PMID: 30264954.
Song JW, Hwang HJ, Lee CM, Park GH, Kim CS, Lee SJ, Ihm SH. Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene. Korean J Intern Med. 2018, May;33(3):638-641. DOI: 10.3904/kjim.2015.373. Epub 2017, Jan 16. PMID: 28092701; PMCID: PMC5943644.
Misgar RA, Wani AI, Bankura B, Bashir MI, Roy A, Das M. FSH β-subunit mutations in two sisters: the first report from the Indian sub-continent and review of previous cases. Gynecol Endocrinol. 2019, Apr;35(4):290-293. DOI: 10.1080/09513590.2018.1529159. Epub 2019, Jan 2. PMID: 30602350.
Zhu L, Xiao N, Zhang T, Kong P, Xu B, Fang Z, Jin L. Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient. J Assist Reprod Genet. 2020, Jun;37(6):1441-1448. DOI: 10.1007/s10815-020-01786-7. Epub 2020, May 5. PMID: 32367462; PMCID: PMC7311626.
Lee G, Lee MS, Lee R, Moon JE. A novel compound variant in GNRHR causing congenital idiopathic hypogonadotropic hypogonadism in a young male Korean patient. Ann Pediatr Endocrinol Metab. 2022, Jun 30. DOI: 10.6065/apem.2244070.035. Epub ahead of print. PMID: 35798295.
Cioppi F, Riera-Escamilla A, Manilall A, Guarducci E, Todisco T, Corona G, Colombo F, Bonomi M, Flanagan CA, Krausz C. Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature. Andrology. 2019, Jan;7(1):88-101. DOI: 10.1111/andr.12563. Epub 2018, Dec 21. PMID: 30575316.
Rivero-Müller A, Huhtaniemi I. Genetic variants of gonadotrophins and their receptors: Impact on the diagnosis and management of the infertile patient. Best Pract Res Clin Endocrinol Metab. 2022, Jan;36(1):101596. DOI: 10.1016/j.beem.2021.101596. Epub 2021, Nov 10. PMID: 34802912.
Wang L, Lin W, Li X, Zhang L, Wang K, Cui X, Tang S, Fang G, Tan Y, Wang X, Chen C, Yang C, Tang H. A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene. Medicine (Baltimore). 2021, Feb 5;100(5):e24007. DOI: 10.1097/MD.0000000000024007. PMID: 33592857; PMCID: PMC7870162.
Maione L, Fèvre A, Nettore IC, Manilall A, Francou B, Trabado S, Bouligand J, Guiochon-Mantel A, Delemer B, Flanagan CA, Macchia PE, Millar RP, Young J. Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome. Hum Reprod. 2019, Jan 01;34(1):137-147. DOI: 10.1093/humrep/dey339. PMID: 30476149.
Šmigoc Schweiger D, Davidović Povše M, Trebušak Podkrajšek K, Battelino T, Avbelj Stefanija M. GNRHR-related central hypogonadism with spontaneous recovery - case report. Ital J Pediatr. 2022, Nov 12;48(1):184. DOI: 10.1186/s13052-022-01377-5. PMID: 36371229; PMCID: PMC9652797.
Funazaki S, Yamada H, Hara K, Ishikawa SE. Spontaneous pregnancy after full recovery from hypopituitarism caused by lymphocytic hypophysitis. Endocrinol Diabetes Metab Case Rep. 2018, Aug 03;2018:18-0081. DOI: 10.1530/EDM-18-0081. PMID: 30083350; PMCID: PMC6075371.
Nana M, Williamson C. Pituitary and Adrenal Disorders of Pregnancy. 2022, Oct 11. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Hofland J, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. PMID: 25905272. Available from: https://pubmed.ncbi.nlm.nih.gov/25905272/
Honegger J, Giese S. Acute pituitary disease in pregnancy: how to handle hypophysitis and Sheehan's syndrome. Minerva Endocrinol. 2018, Dec;43(4):465-475. DOI: 10.23736/S0391-1977.18.02814-6. Epub 2018, Feb 19. PMID: 29463076.
Takaki Y, Mizuochi T, Nishioka J, Eda K, Yatsuga S, Yamashita Y. Nonalcoholic fatty liver disease with prolactin-secreting pituitary adenoma in an adolescent: A case report. Medicine (Baltimore). 2018, Oct;97(42):e12879. DOI: 10.1097/MD.0000000000012879. PMID: 30335007; PMCID: PMC6211884.
Barber TM, Kyrou I, Kaltsas G, Grossman AB, Randeva HS, Weickert MO. Mechanisms of Central Hypogonadism. Int J Mol Sci. 2021, Jul 30;22(15):8217. DOI: 10.3390/ijms22158217. PMID: 34360982; PMCID: PMC8348115.
Cundy TF, Butler J, Pope RM, Saggar-Malik AK, Wheeler MJ, Williams R. Amenorrhoea in women with non-alcoholic chronic liver disease. Gut. 1991, Feb;32(2):202-6. DOI: 10.1136/gut.32.2.202. PMID: 1864542; PMCID: PMC1378809.
Rojas R, Clegg DJ, Palmer BF. Amenorrhea and Estrogen Disorders in Kidney Disease. Semin Nephrol. 2021, Mar;41(2):126-132. DOI: 10.1016/j.semnephrol.2021.03.007. PMID: 34140091.
Chang DH, Dumanski SM, Ahmed SB. Female Reproductive and Gynecologic Considerations in Chronic Kidney Disease: Adolescence and Young Adulthood. Kidney Int Rep. 2021, Nov 25;7(2):152-164. DOI: 10.1016/j.ekir.2021.11.003. PMID: 35155855; PMCID: PMC8820991.
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