A Novel Mutation of Glucose Phosphate Isomerase (GPI) Causing Severe Neonatal Anemia Due to GPI Deficiency.

Glucose-6-phosphate isomerase (GPI) deficiency is very rare, but one of the most common erythroenzymopathies, causing hereditary nonspherocytic hemolytic anemia. This case report describes the clinical features and the molecular etiology of a Dutch patient with GPI deficiency. She is the fifth patient with GPI deficiency identified to date in the Netherlands and was found to be compound heterozygous for the previously reported c.1615G>A p.(Asp539Asn) mutation and a novel c.271A>T p.(Asn91Tyr) variant.

Higher Incidence of Hypospadias in Monochorionic Twins.

BACKGROUND: Hypospadias is associated with twinning. The incidence of hypospadias in monochorionic and dichorionic male twins is, however, yet to be determined. METHODS: All medical records of monochorionic and dichorionic twins admitted to our neonatal nursery between January 2004 and August 2013 were reviewed for the presence of hypospadias. RESULTS: A total of 350 monochorionic and 303 dichorionic male twins were included in the study. The incidence of hypospadias in monochorionic and dichorionic groups was 4% (14/350) and 1% (3/303) (p = .016) respectively. In 11 of the 15 twin couples, hypospadias occurred in the twin with the lowest birth weight. The rate of hypospadias in twin infants small-for-gestational-age group was 10% (6/60) compared with 2% (11/593) in the appropriate-for-gestational-age group (p = .002). In a multivariate analysis, both monochorionicity and small-for-gestational-age were independently associated with hypospadias, odds ratio 4.1 (95% confidence interval (CI): 1.1-14.7) and 6.1 (95% CI: 2.2-17.2) respectively. CONCLUSIONS: The incidence of hypospadias is four-fold higher in monochorionic twins compared with dichorionic twins. Hypospadias is also independently associated with small-for-gestational-age.