OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.

OTC deficiency, an inherited urea cycle disorder, is caused by mutations in the X-linked OTC gene. Phenotype-genotype correlations are well understood in males but still poorly known in females. Taking advantage of a cohort of 130 families (289 females), we assessed the relative contribution of OTC enzyme activity, X chromosome inactivation, and OTC gene sequencing to genetic counseling in heterozygous females.

SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.

Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysmorphic features in significant number of patients, facial recognition entity has not yet been established for SRD5A3-CDG.

[The solid pseudopapillary tumor of pancreas: two cases and literature review].

Solid pseudopapillary tumor (SPT) of the pancreas is a rare exocrine pancreatic tumor behaving in a low-grade fashion, with limited local invasion risk and a rare metastatic evolution. We report SPT in two young females, revealed by abdominal pain and an epigastric mass. The diagnosis of a cystic tumor was based on abdominal ultrasound and CT data in the first case and on MRI in the second.