Pubertad precoz periférica
Resumen
Introducción: El sÃndrome de Mc Cune-Albright (SMA) es una rara entidad asociada con la displasia fibrosa poliostótica, con la presencia de manchas de color café con leche y también con la hiperfunción endocrina. La alteración hormonal más frecuente es la pubertad precoz. El SMA se debe a mutaciones activadoras del gen GNAS1.
Objetivo: Describir las caracterÃsticas clÃnicas de una paciente con sÃndrome de Mc Cune-Albright con una pubertad precoz.
Métodos: Se realizó una revisión de la historia clÃnica como fuente primaria y fueron incorporados todos los elementos clÃnicos, bioquÃmicos, imagenológicos y genéticos que conformaron la valoración integral de la paciente.
Presentación de caso: Se presenta un caso poco frecuente de sÃndrome de Mc Cune-Albright en una niña de siete años de edad con mamas Tanner II-III, sangrado vaginal, vello axilar y pubiano escaso, manchas café con leche y lesiones óseas. Lleva tratamiento con tamoxifeno, lo que ha logrado mantener frenada la progresión del desarrollo puberal.
Conclusiones: Aunque esta entidad es de carácter benigno y la prevalencia es extremadamente baja, el inicio puberal precoz y el compromiso de la talla final pueden producir impacto psicológico en la calidad de vida y en el desarrollo normal del individuo.
Referencias
- Albright F, Butler AM, Hampton AO, Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfucntion. N Engl J Med 1937; 216: 727-46.
- Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001; 22: 675-705.
- Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis 2008; 3: 12-20.
- Rao S, Colaco MP, Desai MP. McCune-Albright syndrome (MCAS): a case series. Indian Pediatr 2003; 40: 29-35.
- McCune DJ, Bruch H. Progress in pediatrics: Osteodystrophia fibrosa. Am J Dis Child 1937; 54: 806-48.
- Weinstein LS, Shenker A, Gejman PV, Merino PJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991; 325: 1688-95.
- Lumbroso S, Paris F, Sultan C. European collaborative study. Activating Gs-alpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome– a European Collaborative Study. J Clin Endocrinol Metab
; 89: 2107-13.
- Weinstein LS, Chen M, Liu J. Gs (alpha) mutations and imprinting defects in human diseases. Ann NY Acad Sci 2002; 968: 173-97.
- Mantovani G, Ballare E, Giammona E, Beck-Peckoz, Spada A. The Gs alpha gene: Predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 2002; 87: 4736-40.
- Mantovani G, Bondioni S, Lania AG, Corbetta S, de Sanctis L, Cappa M et al. Parental origin of Gs-alpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors. J Clin Endocrinol Metab 2004; 89: 3007-9.
- Hayword BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A et al. Imprinting of the Gs alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 2001; 107: 31-6.
- Weinstein LS. G(s) alpha mutations in fibrous dysplasia and McCune-Albright syndrome. J Bone Miner Res 2006; 2: 120-4.
- Leet AI, Collins MT. Current approach to fibrous dysplasia of bone and McCune-Albright syndrome. J Child Orthop 2007; 1: 3-17.
- Glorieux FH, Rauch F. Medical therapy of children with fibrous dysplasia. J Bone Miner Res 2006; 21: 110-3.
- Shah KN. The diagnostic and clinical significance of café- au-lait macules. Pediatr Clin North Amer 2010; 57: 1131-53.
- Eugster EA, Rubin SD, Reiter EO, Plourde P, Jou HC, Pescovitz OH. McCune-Albright study group. Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial. J Pediatr 2003; 143: 60-6.
- Mieszczak J, Lowe ES, Plourde P, Eugster EA. The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome. J Clin Endocrinol Metab 2008; 93: 2751-4.
- Celi FS, Coppotelli G, Chidakel A, Kelly M, Brillante BA, Shawker Tet al. The role of type 1 and type 2 5’-deiodinase in the pathophysiology of the 3, 5, 3’-triiodothyronine toxicosis of McCune-Albright syndrome. J Clin Endocrinol Metab 2008; 93: 2383-9.
- Horvath A, Stratakis CA. Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors. Rev Endocr Metab Disord 2008; 9: 1-11
- Akintoye SO, Chebli C, Booher S, Feuillan P, Kushner H, Leroith D et al. Characterization of GSP-mediated growth hormone excess in the context of McCune-Albright syndrome. J Clin Endocrinol Metab 2002; 87: 5104-12.
- Galland F, Kamenicky P, Affres H, Reznik Y, Pontvert D, Le Bouc Y et al. McCune-Albright syndrome and acromegaly: effects of hypothalamopituitary radiotherapy and/or pegvisomant in somatostatin analogresistant patients. J Clin Endocrinol Metab 2006; 91: 4957- 61.
- Brown RJ, Kelly MH, Collins MT. Cushing syndrome in the McCune-Albright syndrome. J Clin Endocrinol Metab 2010; 95: 1508-15
- Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, et al. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr 1993; 123: 509-518.
- Boston BA. McCune-Albright syndrome. Disponible en URL: http://www.emedicine.com/ped/ topic 1386.htm (Dic 2004)
- Uwaifo GI, Sarlis NJ. McCune-Albright sÃndrome. Disponible en URL. http: www.emedicine. com/ped/topic 3194.htm (Jun 2004).
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