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Int J Mol Sci 23 , 12576 (2022)

A newborn with male phallus or hypospadias, atypical external genitalia and bilateral non-palpable gonads is potentially a genetic female (46,XX) with congenital adrenal hyperplasia due to 21-hydroxylase deficiency or another rare defect of adrenal and gonadal steroidogenesis (11 beta-hydroxylase deficiency, steroidogenic acute regulatory protein (StAR) or cholesterol side-chain cleavage enzyme defect)

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In agreement with the notion that the URs are unfolded, CD spectra of SLC UR and 5 UR both showed an increased -strand content, compared to the wildtype, respectively, whereas only minor changes were observed for VpreB UR (Fig