Molecular Study of the 3β-Hydroxysteroid Dehydrogenase Gene Type II in Patients with Hypospadias

Author:

Codner Ethel12,Okuma Cecilia1,Iñiguez Germán1,Boric M. Angélica1,Avila Alejandra2,Johnson M. Cecilia1,Cassorla Fernando G.1

Affiliation:

1. Institute of Maternal and Child Research (E.C., C.O., G.I., M.A.B., M.C.J., F.C.), School of Medicine, University of Chile

2. Hospital Clínico San Borja Arriarán (E.C., A.A.), National Health Service, Santiago, Chile

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference38 articles.

1. A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3β-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty.;Alos;J Clin Endocrinol Metab,2000

2. Mutations in the type II 3 β-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 β-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia.;Chang;Pediatr Res,1993

3. Pubertal presentation of congenital Δ5–3 β-hydroxysteroid dehydrogenase deficiency.;Rosenfield;J Clin Endocrinol Metab,1980

4. Hypospadias trends in two US surveillance systems.;Paulozzi;Pediatrics,1997

5. Congenital malformations in singletons: epidemiologic survey. Report from the Collaborative Perinatal project.;Myrianthopoulos;Birth Defects Orig Artic Ser,1974

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