A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family

Background: 3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare cause of congenital adrenal hyperplasia (CAH) caused by inactivating mutations in the HSD3B2 gene. Patient and Methods: We report the molecular and structural analysis of the HSD3B2 gene in a 46,XY child born to apparently non...

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Veröffentlicht in:	Hormone research in paediatrics 2016-01, Vol.86 (1), p.53-61
Hauptverfasser:	Bizzarri, Carla, Massimi, Arianna, Federici, Luca, Cualbu, Antonio, Loche, Sandro, Bellincampi, Lorenza, Bernardini, Sergio, Cappa, Marco, Porzio, Ottavia
Format:	Artikel
Sprache:	eng
Schlagworte:	17-alpha-Hydroxyprogesterone - blood Adrenal Hyperplasia, Congenital - blood Adrenal Hyperplasia, Congenital - genetics Adrenocorticotropic Hormone - blood Adult Androstenedione - blood Family Female Frameshift Mutation Humans Infant, Newborn Italy Male Novel Insights from Clinical Practice Progesterone Reductase - chemistry Progesterone Reductase - genetics Protein Domains Renin - blood Structure-Activity Relationship
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