Associated Papers
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
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Makretskaya N et al.
Frontiers in Endocrinology, 2023
Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing.
Almaramhy HH et al.
Frontiers in Genetics, 2023
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
Ladjouze A et al.
Frontiers in Endocrinology, 2022
Case of an unreported genetic variant of salt losing 3-β-hydroxysteroid dehydrogenase deficiency.
Alkhatib EH et al.
Oxford Medical Case Reports, 2021
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
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
Al Alawi AM et al.
Endocrine, 2019
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.
Donadille B et al.
Endocrine Connections, 2018
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Podgórski R et al.
Acta Biochimica Polonica, 2018
Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Benkert AR et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Bhattacharjee A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003