2022, Number 3
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Rev Med UAS 2022; 12 (3)
Female pseudohermaphroditism due to congenital adrenal hyperplasia at the Imaging Department of the Hospital Civil of Culiacan. A case report
Ceballos-Rojas JD, Ochoa-Morales CR, Morales-Sánchez FF, Rochin-Terán JL, Verdugo-Rosas A, Morgan-Ruiz FV, Meza-Espinoza JP, Picos-Cárdenas VJ, Contreras-Gutiérrez JA, Beltrán-Ontiveros SA
Language: Spanish
References: 14
Page: 232-237
PDF size: 141.73 Kb.
ABSTRACT
Congenital adrenal hyperplasia (CAH) is a genetic autosomal recessive disorder caused by deficiency of any enzyme of the cortisol
biosynthesis, mainly 21-hydroxylase. There are two types of CAH: classical and non-classical. The former is more serious and can
lead to the development of ambiguous genitalia in girls, known as female pseudohermaphroditism. Due to the medical and psychosocial
repercussions of this disorder, its early detection is essential, as this is the basis for timely treatment. In this regard, the diagnostic
imaging is of great support, because imaging studies are highly sensitive and specific for diagnosis of this disorder. Here, we present
a case of female pseudohermaphroditism caused by CAH, in which typical findings were detected by imaging studies.
REFERENCES
Torok D. Congenital adrenal hyperplasia.Exp Suppl 2019;11(1):245-260.
Donohoue PA, Parker KL, Migeon CJ. Congenitaladrenal hyperplasia. In: The Metabolicand Molecular Bases of Inherited Disease.Scriver CR, Beaudet AL, Sly WS, ValleD, (Eds) McGraw Hill Inc. 8a Ed. NewYork. 2001, Chap 159: pp 4077-4116.
El-Maouche D, Arlt W, Merke DP. Congenitaladrenal hyperplasia Lancet2017;390(10108):2194-2210.
Krone N, Braun A, Roscher AA, Knorr D,Schwarz HP. Predicting phenotype in steroid21-hydroxylase deficiency? Comprehensivegenotyping in 155 unrelated, well defined patientsfrom southern Germany. J Clin EndocrinolMetab 2000;85(3):1059-65.
New MI: An update of congenital adrenal hyperplasia.Ann NY Med Acad Sci2004;1038(1):14-43.
Therrell BL. Newborn screening for congenitaladrenal hyperplasia. Endocrinol MetabClin North Am 2001;30(1):15-30.
Rare Disease Database. Congenital AdrenalHyperplasia. https://rarediseases.org/rarediseases/congenital-adrenal-hyperplasia/Revisado el 06 de mayo de 2022.
Choudhury SR. Disorders of sexual differentiation.In Pediatric Surgery. Springer, Singapore.2018, pp. 355-361.
Trapp CM, Speiser PW, Oberfield SE. Congenitaladrenal hyperplasia: an update inchildren. Curr Opin Endocrinol DiabetesObes 2011;18(3):166-70.
Saada J, Grebille AG, Aubry MC, Rafii A,Dumez Y, Benachi A. Sonography in prenataldiagnosis of congenital adrenal hyperplasia.Prenatal Diagnosis: Int Soc PrenatalDiag. 2004;24(8):627-30.
Khattab A, Yuen T, Sun L, Yau M, Barhan A,Zaidi M, et al. Noninvasive prenatal diagnosisof congenital adrenal hyperplasia. In: AdvancedTherapies in Pediatric Endocrinologyand Diabetology, Karger Publishers, 2016,vol. 30, pp. 37-41.
Chavhan GB, Parra DA, Oudjhane K, MillerSF, Babyn PS, Pippi Salle FL. Imaging ofambiguous genitalia: classification and diagnosticapproach. Radiograph2008;28(7):1891-904.
Dhesi AS, McGovern PG. Diagnosis andManagement of Congenital Adrenal Hyperplasia.Topics Obstet Gynecol.2014;34(12):1-7.
White PC. Update on diagnosis and managementof congenital adrenal hyperplasiadue to 21-hydroxylase deficiency. Curr OpinEndocrinol Diabetes Obes 2018;25(3):178-84.