Associated Papers
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Cavarzere P et al.
Journal of Endocrinological Investigation, 2025
Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience.
Gawlik Z et al.
Frontiers in Endocrinology, 2025
Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing.
Almaramhy HH et al.
Frontiers in Genetics, 2023
Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants.
Menegatti E et al.
Journal of Clinical Medicine, 2022
Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.
Nicola AG et al.
Diagnostics (basel, Switzerland), 2022
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
Ladjouze A et al.
Frontiers in Endocrinology, 2022
Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
Baronio F et al.
International Journal of Molecular Sciences, 2019
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
Al Alawi AM et al.
Endocrine, 2019
3β-hydroxyesteroid dehydrogenase deficiency detected through increased serum levels of 17-hydroxyprogesterone in the neonatal screening.
de Arriba Muñoz A et al.
Medicina Clinica, 2018
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.
Donadille B et al.
Endocrine Connections, 2018
A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
Bizzarri C et al.
Hormone Research in Paediatrics, 2016
3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.
Araújo VG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2014
In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations.
Rabbani B et al.
Gene, 2012
Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.
Lusa LG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
Mermejo LM et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.
Pang S et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency.
Simard J et al.
Endocrine Research, 2000
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM et al.
The Journal of Clinical Endocrinology and Metabolism, 1999