Valdés AMC, Basain VJM, Bioti TY

Language: Spanish
References: 15
Page: 381-389
PDF size: 152.43 Kb.

ABSTRACT

Steroid 21-hydroxylase is the most frequent form of congenital adrenal hyperplasia that is part of the sexual differentiation disorders. This article reported 3 cases.
The first one was a 19 days-old infant who was taken to the doctor´s because of external genitalia disorders. The physical exam revealed augmented clitoris with urethral orifice in its basis and thickening of the labioscrotal swellings. The patient was diagnosed by means of gynecological ultrasound, sexual chromatin, hormonal studies and karyotype. The second case was a 15 days-old newborn, who was also taken to the doctor´s for external genitalia disorders. The physical exam was similar to that of the first case and the same complementary tests were performed for diagnosis. The third case was a 2 months-old infant who was taken to the medical service for the same reasons, and his physical exam showed clitoris hyperplasia, orifice in its base and thickening of labia majora that fused in the midline. The same complementary tests were indicated. The final diagnosis in these three cases was virilizing adrenal hyperplasia. They were all treated with hormone replacement therapy and reconstructive surgery of their external genitalia.

REFERENCES

1. Pérez Samper LA, Martínez Ramos NR. Hiperplasia suprarrenal congénita por déficit de la 21 hidroxilasa. Presentación de un caso. MEDICIEGO. 2013;19(Supl. 1):124-34.

2. Bose HS, Sugawara T, Strauss JF. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med. 2006;335:1870-8.

3. Minutolo C, Nadra AD, Fernandez C, Taboas M. Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients. PLoS One. 2011;6(1):158-99.

4. Chancia S, Fulidenberg G, Jinesk L. Ocurrence of male phenotype in genotypic with congenital virilizing adrenal hyperplasia. Am J Med Genet. 2009;34:406-12.

5. Marino R, Ramirez P, Galeano G, Perez Garrido N, Rocco C, Ciaccio M, et al. Steroid 21-hydroxylase gene mutational spectrum in 454 argentinean patients: genotypephenotype correlations in a large cohort of patients with congenital adrenal hyperplasia. Clin Endocrinol. 2011;75:427-35.

6. Krone N, Arlt W. Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009;23:181-92.

7. Miller WL. Pathophysiology, genetics, and treatment of hyperandrogenism. Pediatr Clin North Am. 1997;44:375-95.

8. Acevedo J, Acevedo S. Hiperplasia Suprarrenal Congénita Virilizante. Rev Ped Elec. 2012;9(2):193-8.

9. Speiser P, Azziz R, Baskin L, Ghizzoni L, Hensle T, Merke D. Congenital Adrenal Hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2010;95:4133-60.

10. Pasqualini T, Alonso G, Fernández C, Buzzalino N, Dain L. Talla final en varones sintomáticos con hiperplasia suprarrenal no clásica tratados con glucocorticoides. Casos clínicos. Arch Argent Pediatr. 2013;111(2):86-94.

11. Henao G. Hiperplasia Suprarrenal. En: Botero J, Jubiz A, Henao G. Obstetricia y Ginecología. 5ta. ed. Medellín, Colombia: Editorial Carvajal S.A.; 2007. p. 414-9.

12. Mercado AB, Wilson RC, Cheng KC. Extensive personal experience. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21 hydroxylase deficiency. J Clin Endocrinol Metab. 2008;80:2014-20.

13. Alemán Ramírez R, Céspedes Durán L, Fernández Vaglio R, Herrera Rodríguez A, Sánchez Villalobos N, Solar Del Valle T, et al. Desórdenes del desarrollo sexual y cirugía correctiva. Med Leg Costa Rica. 2013;30(2):134-41.

14. Lajic S, Nordenström A, Hirvikoski T. Long-term outcome of prenatal treatment of congenital adrenal hyperplasia. Endocr Dev. 2008;13:82-98.

15. Coto Rodeiro R, Varona Sánchez JA, Borrego López JA, Formoso Martín LE. Resultados de la pesquisa de hiperplasia adrenal congénita en recién nacidos. Rev Cubana Obstet Ginecol. 2011;37(2):136-46.