Associated Papers
Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis.
Fujisawa Y et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2023
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
Gonçalves CI et al.
International Journal of Molecular Sciences, 2022
Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.
Rafigh M et al.
Fetal and Pediatric Pathology, 2022
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
Castro CC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.
George MM et al.
Hormone Research in Paediatrics, 2010
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
Mains LM et al.
Fertility and Sterility, 2008
Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.
Faienza MF et al.
Journal of Endocrinological Investigation, 2008
17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.
Bertelloni S et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2006
[17 beta hydroxysteroid dehydrogenase deficiency. Clinical, endocrinological and molecular features].
Bertelloni S et al.
Minerva Pediatrica, 2003
17beta-hydroxysteroid dehydrogenases: physiological roles in health and disease.
Moghrabi N et al.
Trends in Endocrinology and Metabolism: Tem, 1998