A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone

CONCLUSION: Severe hypospadias in the proband may be attributed to a novel MAMLD1 variant, whereas the 17α-OH elevation might be related to interference with CYP17A1 transcriptional activation. This study expands the spectrum of MAMLD1 variants and underscores the critical role of genetic testing in the diagnosis of DSD.PMID:37996649 | DOI:10.1007/s42000-023-00513-y
Source: Hormones - Category: Endocrinology Authors: Source Type: research