Suárez-García N, Piloña-Ruiz SG

Language: Spanish
References: 13
Page: 1-8
PDF size: 417.52 Kb.

ABSTRACT

Introduction: congenital adrenal hyperplasia is the most frequent cause of alterations in sexual differentiation.
Case report: the clinical case of a full-term newborn, good-weight, with no pathological perinatal history is presented. He was born in good condition and by clinical method an early diagnosis of anomalies in the development of genitalia (ambiguous) was made, requiring multidisciplinary consultation with genetics, endocrinology, neonatology, urology, gynecology, psychology and surgery, with prior informed consent of the family. During the evolution he presented: flavinic jaundice of skin and mucous membranes at 72 hours, in relation to physiological jaundice, levels of 17-hydroxyprogesterone serum in 200ng/ml (elevated) and a physiological weight loss of 10%, maximum limit of normality, according to maturity. The Neonatal Screening Program corroborated the diagnosis of HSC 21-hydroxylase, in the simple classical virilizing form IV-grade, with associated hyponatremia and hyperkalemia in hemochemical studies. In special neonatal care he required stabilization, correction of electrolyte disorders and treatment with Fludrocortisone and cortisone acetate. He evolved stable. He was discharged with follow-up by Endocrinology and Genetics consultations. Currently awaiting corrective surgery, the couple involved required studies, genetic counseling for the prevention of future births and was followed-up in a medical multidisciplinary consultation.
Conclusions: immediate medical assistance and timely diagnosis of congenital adrenal hyperplasia, simple classical virilizing form grade- IV, debuting in the neonatal period, allowed anticipating severe acute saline loss, reducing the biopsychosocial impact and improving infant survival.

REFERENCES

1. Latorre S, Garzón C, Manosalva G, Merchán S, Jacomussi L, Maldonado S. Hiperplasia adrenal congénita por déficit de 21 hidroxilasa: un reto diagnóstico y terapéutico. Repert Med Cir [Internet]. 2016 [citado 8/ 08/ 2021]; 25(2): 79-88. Disponible en: Disponible en: https://www. sciencedirect. com/science/article/pii/S0121737216300292

2. González EC, Castells EM, Frómeta A, Arteaga AL, Del Río L, Tejeda Y, et al. SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba: An Overview of the First 30 Years. Journal of Inborn Errors of Metabolism & Screening [Internet]. 2016 [citado 21/ 08/ 2021]; 4: 1-9. Disponible en: Disponible en: https://journals. sagepub. com/doi/pdf/10. 1177/2326409816661356

3. Rodríguez M, Espinosa F. Uso de glucocorticoides sistémicos en Pediatría: generalidades. Acta Pediatr Mex [Internet]. 2016 [citado 9/ 08/ 2021]; 37(6): 349-354. Disponible en: Disponible en: https://www. redalyc. org/pdf/4236/423648197007. pdf

4. Feldman S. Congenital Adrenal Hyperplasia. Pediatr Adolesc Gynecol [Internet]. 2017 [citado 8/ 08/ 2021]; 30(5): 520-534. Disponible en: Disponible en: https://www. jpagonline. org/article/S1083-3188%2816%2930343-6/abstract

5. Phyllis W. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline. J Clin Endocrinol Metab [Internet]. 2018 [citado 1/ 08/ 2021]; 103(11): 4043-4088. Disponible en: Disponible en: https://www. ncbi. nlm. nih. gov/pubmed/30272171

6. Roblejo H, Marcheco B. Genetics and genomic medicine in Cuba. Molecular Genetics & Genomic Medicine [Internet]. 2017 May [citado 18/ 08/ 2021]; 5(3): 196-201. Disponible en: Disponible en: https://www. ncbi. nlm. nih. gov/pmc/articles/PMC5441404/pdf/MGG3-5-196. pdf

7. Ponce CF, Campos E, Milán A. Hiperplasia Suprarrenal Congénita. Reporte de Caso. Acta Pediátrica Hondureña [Internet]. Oct 2013-Mar 2014 [citado 8/ 08 /2021]; 4(2): 313-317. Disponible en:Disponible en:http://www. bvs. hn/APH/pdf/APHVol4/pdf/APHVol4-2-2013-7. pdf

8. Donoso Sanz MA. Aspectos éticos en el abordaje médico de menores con diferencias en el desarrollo sexual. Hechos, valores y deberes en las DDS. Rev Esp Endocrinol Pediatr [Internet]. 2016 [citado 18/08/2021]; 7(2): 27-31. Disponible en:Disponible en:http://www. endocrinologiapediatrica. org/revistas/P1-E20/P1-E20-S945-A380. pdf

9. Vicente E, Casas L, Ardanaz E. Origen de los programas de cribado neonatal y sus inicios en España. An Sist Sanit Navar [Internet]. 2017 [citado 26/ 08/ 2021]; 40(1): 131-140. Disponible en:Disponible en:http://scielo. isciii. es/pdf/asisna/v40n1/1137-6627-asisna-40-01-00131. pdf

10. Bañuelos B, González R, Ludwikowski B, Lingnau A. Effectiveness of Prenatal Intervention on the Outcome of Diseases That Have a Postnatal Urological Impact. Front Pediatr [Internet]. 2019 [citado 22/ 08/ 2021]; 7(118): 1-6. Disponible en: Disponible en: https://www. ncbi. nlm. nih. gov/pmc/articles/PMC6454137/pdf/fped-07-00118. pdf

11. Clemente M, Puga B, Campos A, Yeste D. Tratamiento prenatal de la HSC. Rev Esp Endocrinol Pediatr [Internet]. 2018 [citado 18/ 08/ 2021]; 9(Suppl1): 26-29. Disponible en:Disponible en:https://www. endocrinologiapediatrica. org/revistas/P1-E25/P1-E25-S1412-A456. pdf

12. Fidalgo SG. Hiperplasia suprarrenal congénita: diagnóstico y tratamiento prenatal. Actualización. Revista de la Sociedad Argentina de Endocrinología Ginecológica y Reproductiva [Internet]. 2016 [citado 23/ 08/ 2021]; 23(1): 18-28. Disponible en:Disponible en:http://www. saegre. org. ar/revista/numeros/2016/n1/7-trabajo. pdf

13. Riaño I, Chueca M. Consideraciones sobre el tratamiento prenatal en Hiperplasia Suprarrenal Congénita. Rev Esp Endocrinol Pediatr [Internet]. 2016 [citado 28/ 08/ 2021]; 7(2): 32-36. Disponible en: Disponible en: http://www. endocrinologiapediatrica. org/revistas/P1-E20/P1-E20-S945-A381. pdf