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Genitales ambiguos al nacer (simétricos o no)

Genitales ambiguos al nacer (simétricos o no). Ecografía pélvica. Gónadas palpables. Gónadas no palpables. estructura uterina. no útero. estructura uterina. no útero. > 40 nmol/L o screening neonatal (+). < 40 nmol/L o screening neonatal (-). AMH. 17 OH-P. Normal. Baja. Normal.

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Genitales ambiguos al nacer (simétricos o no)

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  1. Genitales ambiguos al nacer (simétricos o no) Ecografía pélvica Gónadas palpables Gónadas no palpables estructura uterina no útero estructura uterina no útero > 40 nmol/L o screening neonatal (+) < 40 nmol/L o screening neonatal (-) AMH 17 OH-P Normal Baja Normal Variable AMH Normal < 10 pmol/L • Disgenesia gonadal • Ovotestes • Masculino XX XY XX X0/XY XX/XY Diferenciación testicular normal XY Cariotipo XX XX 21-OHD CYP21B poco frecuente Cariotipo 17 OH-P Diferenciación testicular normal (poco frecuente) • Disgenesia gonadal • Ovotestes 11-OHD CYP11B1 screening neonatal + otras determinaciones Normal POR Gen AR Aromatasa CYP19A1 Déficit HSD3B2 (17 OH-Preg > 90 nmol/L) Déficit StAR (esteroides indosificables) PAIS Mutación < 15 % Otros (luteoma, etc...) Figura 2 modificado de Yves Morel 2010

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