So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.
Reinaldo Luna de Omena FilhoReginaldo José PetroliFernanda Caroline SoardiDébora de Paula MichelattoTaís Nitsch MazzolaHelena Fabbri-ScalletMaricilda Palandi de MelloSusane Vasconcelos ZanottiIda Cristina GubertIsabella Lopes MonlleóPublished in: Italian journal of pediatrics (2022)
Researchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families' pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.