Disorders of sex development associated with MPI and RSPH1 variants expand the phenotypic spectrum of CDG and PCD in Morocco

In this study, whole exome sequencing (WES) was performed on a Moroccan patient, born to non-consanguineous parents, who presented with severe hypospadias, micropenis, and cryptorchidism, and exhibited overlapping phenotypic features consistent with congenital disorder of glycosylation (CDG) and primary ciliary dyskinesia (PCD). After variant annotation and prioritization, two heterozygous variants in the MPI (c.305 C > T; p. Ser102Leu) and RSPH1 (c.471 C > G; p. His157Gln) genes were identified and confirmed by Sanger sequencing in family members. […] To our knowledge, this is the first report of these specific variants in the context of DSD, shedding light on a unique genotype-phenotype profile associated with the patient’s complex clinical presentation.