title: 46,XY gonadal dysgenesis associated with congenital nephrotic syndrome and sepsis.
abstract: The occurrence of nephrosis in the first 3 months of life is rare and is termed 'congenital nephrotic syndrome.' The congenital nephrotic syndrome is a group of heterogeneous diseases with a clinical course that differs markedly from the childhood nephrotic syndrome. The coexistence of a congenital nephrotic syndrome and gonadal dysgenesis in a 46,XY karyotype with normal female external genitalia is extremely rare. Frequent severe infections are often seen in the Finnish type, but sepsis leading to death is rare in the neonatal onset of gonadal dysgenesis. This report describes an unusual case of complete XY gonadal dysgenesis in a 46,XY female neonate with the congenital nephrotic syndrome and overwhelming sepsis.
authors.affiliation: Division of Pediatric Nephrology, Department of Pediatrics, Chung Shan Medical and Dental College Hospital, No.23, Section 1, Taichung Kang Road, Taichung, Taiwan 40334, Republic of China.
authors.forename: J N
authors.initials: JN
authors.lastname: Sheu
authors.forename: J H
authors.initials: JH
authors.lastname: Chen
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009404:Nephrotic Syndrome / Q000150:complications* / Q000151:congenital*; D018805:Sepsis / Q000150:complications*