Adrenal hyperplasia congenital: beginning of developmental and sexual differentiation disorders
PDF (Español (España))
HTML (Español (España))

How to Cite

Herrera-Gómez, A. (2015). Adrenal hyperplasia congenital: beginning of developmental and sexual differentiation disorders. Médicas UIS, 28(1), 125–132. Retrieved from https://revistas.uis.edu.co/index.php/revistamedicasuis/article/view/4913

Abstract

Adrenal hyperplasia congenital is a genetic disease that develops from an enzyme deficiency secondary to alterations in protein synthesis. This deficit disturbs the pathways of adrenal metabolism, specifically occurring in the cortex of the gland, such as, the glucocorticoid, mineralocorticoid and the sex hormones metabolism. These molecular variations translated to the clinics are expressed in a variety of possible presentations, each depending of the enzyme that is affected, since electrolyte, metabolic, renal abnormalities or and gastrointestinal tract disturbances, but one of these is commonly for all presentation, the development and sexual differentiation disorders. Among the most severe forms of adrenal hyperplasia congenital alterations of the external sexual characters that basically translate into virilization of the genitals duringgestational development, as well as precocious puberty, amenorrhea, infertility observed, among other. MÉD.UIS. 2015;28(1):125-132.

Keywords: Adrenal Hyperplasia congenital. Sexual Development. Genetics. Sex Differentiation. Sex Characteristics.

PDF (Español (España))
HTML (Español (España))

References

Sepúlveda J, Sanguino L, Jaimes H. Hiperplasia adrenal congénita. Rev colomb obstet ginecol. 2001;52(4).

Milagros A, Begoña E. Hiperplasia suprarrenal congénita no clásica o tardía. Rev Esp Endocrinol Pediatr. 2012;3(Suppl):61-73.

Fonseca D, Gutiérrez A, Silv a C, Coll M, Malo G, Orjuela C, et al. Identificación de mutaciones puntuales del gen de la 21-hidroxilasa en pacientes afectados con hiperplasia suprarrenal congénita. Biomédica(Bogotá). 2005;25(2):220-30.

Rodríguez JM. El papel del receptor de glucocorticoide en el estrés temprano. Univ. Méd. Bogotá (Colombia). 2010;51(4):385-91.

Rege J, Rainey WE. The steroid metabolome of adrenarche. J Endocrinol. 2012;214(2):133-43. Epub 2012 Jun 19.

Navas C, Zapata D. Aspectos inmunológicos en la depresión. Rev venez oncol. 2009;21(4):244-52.

Angoorani H, Haratian Z, Halabchi F. Congenital Adrenal Hyperplasia in an Elite Female Soccer Player; What Sports Medicine Clinicians Should Know about This?. Asian J Sports Med. 2012;3(3):209-13.

Reisch N, Arlt W, Krone N. Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. Horm Res Paediatr. 2011;76(2):73-85 Epub 2011 May 18.

Cheviakoff S, Youlton R. Sindrome de hiperplasia adrenal congenita no clasica y embarazo. Rev chil obstet ginecol. 2003;68(1):28-31.

Al-Maghribi H. Congenital adrenal hyperplasia: problems with developmental anomalies of the external genitalia and sex assignment. Saudi J Kidney Dis Transpl. 2007;18(3):405-13.

Martínez MA, Hernández JI, Ramírez CA, Cordova LP, Esparza- Ledesma HM. Hiperplasia suprarrenal congénita secundaria a deficiencia de 21-hidroxilasa: Reporte de un caso. Bol Clín Hops Infant Edo Son. 2007;24(1):38-41.

Speiser PW, White PC. Medical progress congenital adrenal hyperplasia. N Engl J Med. 2003;349:776-88.

Soriano L, Velázquez M. Hiperplasia suprarrenal congénita. Unidad de Endocrinología Infantil. Servicio de Pediatría. Fundación Jiménez Díaz, Madrid. 2007;11(7):601-10.

Fardella C. Hiperplasia suprarrenal congénita. Rev. chil. pediatr. 2001;72(5):408-15.

Lusa LG, Lemos-Marini SH, Soardi FC, Ferraz LF, Guerra-Júnior G, Mello MP. Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia. Arq Bras Endocrinol Metab. 2010;54(8):768-74.

Carvajal F, Montesino T, Espinosa T, Navarrete J, Pérez C. Forma no clásica de hiperplasia adrenal congénita en la niñez y adolescencia. Rev Cubana Endocrinol. 2010;21(1):62-73.

Kofman-Alfaro S, Queipo G. Diferenciación sexual normal y

patológica. Mensaje Bioquímico. 2005;29:109-18.

MacLaughlin DT, Donahoe PK. Sex Determination and Differentiation. N Engl J Med. 2004;350(4):367-78.

Oliva R. Genes del cromosoma Y. Significado clínico. En: SIMPOSI SOBRE INFERTILITAT MASCULINA: GENÈTICA I AMBIENT: Segona edició de sabadell universitat estiu; 2003.

Öçal G. Current Concepts in Disorders of Sexual Development. Journal Clin Res Pediatr Endocrinol. 2011;3(3):105-14.

Rey R. Diferenciación sexual embrio-fetal: De las moléculas a la anatomía. Rev chil anat. 2001;19(1):75-82.

Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus Statement on Management of Intersex Disorders. Pediatrics. 2006;118(2):e488-500.

Erdoğan S, Kara C, Uçaktürk A, Aydın M. Etiological Classification and Clinical Assessment of Children and Adolescents with Disorders of Sex Development. J Clin Res in Pediatr Endocrinol. 2011;3(2):77-83. Epub 2011 Aug 6.

Kousta E, Papathanasiou A, Skordis N. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals. Hormones (Athens). 2010;9(3):218-31.

Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, et al.; Endocrine Society. Congenital Adrenal Hyperplasia Due to Steroid 21-hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2010;95(9):4133-60.

Islas LP, Jiménez JR, Verduzco M. Pseudohermafroditismo femenino por hiperplasia suprarreanl congénita. Rev mex pediatr. 2005;72(2):74-7.

Downloads

Download data is not yet available.