Primary amenorrea
DOI:
https://doi.org/10.18597/rcog.354Keywords:
amenorrhea, primary amenorrhea, menstrual disorder, Turner syndrome, Kallmann syndrome, Prader-Willi syndrome, hypogonadotropic-hypogonadismAbstract
Objective: this is a detailed review of primary amenorrhea using Mashchak CA et al. classification according to the presence or absence of breast development and the presence or absence of uterus as being the most useful approach for managing patients suffering from this problem.
Method: Medline and Ovid databases were searched for papers published in English using the following keywords: amenorrhea, primary amenorrhea, menstrual disorder, Turner syndrome, Kallmann syndrome, Prader-Willisyndrome, hypogonadotropic hypogonadism. This information was classified to support this review by making summaries for analysis.
Results: primary amenorrhea can be caused by many alterations affecting the Mullerian structures, gonads, pituitary gland, hypothalamus, thyroid, adrenals or hormonal dysfunction; such anomalies may be congenital due to genetic or chromosomal defects or acquired. It is thus important that this problem is specifically diagnosed to enable a suitable therapeutic approach to be adopted for minimising the consequences of this disease.
Conclusions: many diseases cause this problem, so diagnosing and treating patients suffering from primary amenorrhea must be individualised; however, some general questions needing specific answers are raised by all patients or their families. These questions are related to menstruation and spontaneous menstrual cycles, subsequent fertility, sexuality and the possibility of coitus with satisfactory vaginal penetration.
Author Biographies
Janer Sepúlveda-Agudelo
Miguel Ángel Alarcón-Nivia
Hermes Jaimes-Carvajal
References
Pletcher JR, Slap GB. Menstrual disorders. Amenorrhea. Pediatr Clin North Am 1999;46:505-18
Speroff L, Glass RH, Kase NG. Clinical ginecologic endocrinology and infertility. 6th ed. Baltimore, Md.: Lippincott Williams & Wilkins; 1999.
Davajan V, Kletzky OA. Primary Amenorrhea. Phenotypic Female External Genitalia. En: Mishell D, Davajan V, Lobo R. Infertility, Contraception & Reproductive Endocrinology. 3rd. ed. Boston: Blackwell Scientific Publications; 1991. p. 356-71.
Mashchak AC, Kletzky OA, Davajan V, Mishell DR Jr. Clinical and laboratory evaluation of patients with primary amenorrhea. Obstet Gynecol 1981;57:715-21.
Sánchez Escobar F, García Gómez JE. Amenorrea primaria. En: Botero J, Jubiz A, Henao G. Obstetricia y Ginecología. 7a. ed. Universidad de Antioquia, Colombia: Quebecor Impreandes; 2004. p. 492-502.
Hayes FJ, Seminara SB, Crowley WF Jr. Hypogonadotropic hypogonadism. Endocrinology and Metabolism Clinics North Am 1998;27:739-63.
Scherzer WJ, McClamrock H. Amenorrea. En: Berek J, Hillard PA, Adashi EY. Ginecología de Novak. 12 ed. México DF: McGraw-Hill. Interamericana; 1997. p. 809-32.
Berek J, Hillard PA, Adashi EY, Rebar RV. Pubertad. En: Ginecología de Novak. 12 ed. México DF: McGraw-Hill Interamericana; 1997. p. 783.
Hay C, Wu F. Genetics and hypogonadotrophic hypogonadism. Curr Opin Obstet Gynecol 2002;14:303-8.
Quinton R, Duke VM, de Zoysa PA, Platts AD, Valentine A, Kendall B, et al. The neuroradiology of Kallmann’s syndrome: a genotypic and phenotypic analysis. J Clin Endocrinol Metab 1996;81:3010-7.
OMIM® -Online Mendelian Inheritance in Man®. Visitado 2008, Abr 8. Disponible en: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim
Waldstreicher J, Seminara SB, Jameson JL, Geyer A, Nachtigall LB, Boepple PA, et al. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab 1996;81:4388-95.
Welt CK, Barbieri RL. Etiology, diagnosis, and treatment of primary amenorrhea. UpToDate 2007;15(3).
Cassidy SB, Schwartz S. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine (Baltimore) 1998;77:140-51.
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Creenswag LR, Whitman By, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993;91:398-402.
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenen SB, Crawford JK. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 1981;304:325-9.
Festen D, Wevers M, de Weerd AW, van den Bossche RA, Duivenvoorden HJ, Otten BJ, et al. Psychomotor development in infants with prader-willi syndrome and associations with sleep-related breathing disorders. Pediatr Res 2007;62:221-4.
Miller SP, Riley P, Shevell MI. The neonatal presentation of Prader-Willi syndrome revisited. J Pediatr 1999;134:226-8.
Swaab DF, Purba JS, Hofman MA. Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. J Endocrinol Metab 1995;80:573-9.
Belt AB, Hertel TA, Mante JR, Marks T, Rockett VL, Wade C, et al. Movement Characteristics of Persons with Prader-Willi Syndrome Rising from Supine. Pediatr Phys Ther 2001;13:110-21.
McEntagart ME, Webb T, Hardy C, King MD. Familial Prader-Willi syndrome: case report and a literature review. Clin Genet 2000;58:216-23.
Smeets DF, Hamel BC, Nelen MR, Smeets HJ, Bollen JH, Smits AP et al. Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med 1992;326:807-11.
Stratakis CA, Rennert OM. Turner syndrome: an update. Endocrinologist 2005;15:27-36.
Braverman PK, Sondheimer SJ. Menstrual disorders. Pediatr Rev 1997;18:17-25.
Sybert VP, MsCauley E. Turner´s syndrome. N Engl J Med 2004;351:1227-38.
Bader-Meunier B, Tchernia G, Mielot F, Fontaine JL, Thomas C, Lyonnet S, et al. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr 1997;130:885-9.
Silburn PA, Nicholson GA, Teh BT, Blair IP, Pollard JD, Nolan PJ, et al. Charcot-Marie-Tooth disease and Noonan syndrome with giant proximal nerve hypertrophy. Neurology 1998;50:1067-73.
Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, et al. Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab 2004;89:3359-64.
Romano AA, Blethen SL, Dana K, Noto RA. Growth hormona treatment in Noonan syndrome: the National Cooperative Growth Study experience. J Pediatr 1996;128:S18-21.
Villegas JD, Cuevas R, Barón G. Disgenesia gonadal pura: síndrome de Swyer-James. Presentación de un caso y revisión de la literatura. Rev Colomb Obstet Ginecol 1998;49:41-5.
Wilson EE, Vuitch F, Carr BR. Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. Obstet Gynecol 1992;79:842-3.
Parker M, Barnhill D, Teneriello M, O’Connor D, Park R. Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. Obstet Gynecol 1992;80:567-8.
Miller WL. Pathophysiology, genetics, and treatment of hyperandrogenism. Pediatr Clin North Am 1997;44:375-95.
Fardella CE, Hum DW, Homoki J. Miller WL. Point mutation of Arg440 to his cytochrome P450c 17 causes severe 17 alfa hydroxylase deficiency. J Clin Endocrinol Metab 1994:79:160-4.
Stavrou SS, Zhu YS, Cai LQ, Katz MK, Herrera C, Defillo-Ricart M, et al. A novel mutation of the human luteinizing hormone receptor in 46 XX sisters. J Clin Endocinol Metab 1998;83:2091-8.
Toledo SP, Brunner HG, Kraaij R, Post M, Dahia PL, Hayashida CY, et al. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46, XX female. J Clin Endocrinol Metab 1996;81:3850-4.
Jaimes H. Amenorrea primaria. En: Pérez LE. Infertilidad y Endocrinología Reproductiva. 3a ed. Bogotá: Grafiempresos Donado; 2007. p. 199-210.
Stany MP, Winter WE 3rd, Elkas JC, Rose GS. The uses of a cellular termal grafo for vulvo vaginal reconstruction in a patient with lichen planus. Obstet and Gynecol 2005;105:1268-71.
Wierrani F, Grûnberger W.Vaginoplasty using deepthelialized vulvar transposition Flaps: the Grûberger method. J Am Coll Surg 2003;196:159-62.
Motoyama S, Laoag-Fernández JB, Mochizuki S, Yamabe S, Maruo T. Vaginoplasty with intercede absorbable adhesion barrier for complete squamous epithelization in vaginal agenesis. Am J Obstet Gynecol 2003;188:1260-4.
Stephure DK. The Canadian Growth Hormone Advisory Committee. Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian Randomized controlled trial. J Clin Endocrinol Metab 2005;90:3360-6.
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