Producción CyT
Congreso
Autoría
Mattone, MC
;
Costanzo, M
;
Lobo de la Vega, V
;
Paulon Y
;
Rojas, G
;
Lescano, M
;
Zappa, J
;
Mocarbel, Y
;
Baquedano, MS
;
Perez Garrido, N
;
Marino, R
;
Ramirez, P
;
Belgorosky, A
;
Ciaccio, M
;
GUERCIO, GABRIELA VIVIANA
Fecha
2023
Editorial y Lugar de Edición
Karger
Resumen
Información suministrada por el agente en
SIGEVA
Introduction: 3BHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In recessive loss-of-function HSD3B2 mutations, steroid flux is altered leading to a rare form of congenital adrenal hyperplasia (CAH) that compromise genital development in both, 46,XX and 46,XY individuals Aim: To report the clinical and biochemical findings and the follow-up of patients with CAH secondary to 3BHSD2 deficiency confirmed by molecular studies.Methods: Six CAH patients (46,XY, n=5; and 46,XX, n=1)...
Introduction: 3BHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In recessive loss-of-function HSD3B2 mutations, steroid flux is altered leading to a rare form of congenital adrenal hyperplasia (CAH) that compromise genital development in both, 46,XX and 46,XY individuals Aim: To report the clinical and biochemical findings and the follow-up of patients with CAH secondary to 3BHSD2 deficiency confirmed by molecular studies.Methods: Six CAH patients (46,XY, n=5; and 46,XX, n=1) secondary to 3BHSD2 deficiency were retrospectively evaluated at a tertiary care unit. The variables analyzed in the study are depicted in the table.Conclusion: The spectrum of clinical and biochemical manifestations associated with mutations in HSD3B2 is complex and variable. Detailed steroid profile is useful in the identification of these patients and in the differential diagnosis of other forms of CAH non-21 OHD. However, molecular confirmation is mandatory. In 46,XY DSD with pathological CAH-NS a steroid enzymatic deficiency other than 21-hidroxilase should be suspected. The underrepresentation of 46,XX patients in this autosomal recessive disorder may be explained by the milder genital phenotype that could delay diagnosis and/or lead to unrecognized infant death. 3BHSD2 deficiency is, therefore, an infrequent but important form of CAH that should be actively considered in the differential diagnosis for timely identification and management
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Palabras Clave
3BHSD2 deficiencyCAH