Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis-Reference-Cited by-同舟云学术

Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis

Published:2023-11 Issue: Volume:234 Page:106403
ISSN:0960-0760
Container-title:The Journal of Steroid Biochemistry and Molecular Biology
language:en
Short-container-title:The Journal of Steroid Biochemistry and Molecular Biology

Author:

Fujisawa Yasuko,Masunaga Yohei,Tanikawa Wataru,Nakashima Shinichi,Ueda Daisuke,Sano Shinichiro,Fukami Maki,Saitsu Hirotomo,Yazawa Takashi,Ogata Tsutomu

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Endocrinology,Molecular Biology,Molecular Medicine,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference27 articles.

1. Diagnosis of 17β-hydrpxysteroid dehydrogenase deficiency;Bertelloni;Expert Rev. Endcrinol. Metab.,2009

2. Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3;Geissler;Nat. Genet,1994

3. 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;Int. J. Mol. Sci.,2022

4. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort;Eggers;Genome Biol.,2016

5. Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD);Hughes;Endocr. Connect.,2019

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1. Letter to the Editor regarding “Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis”;The Journal of Steroid Biochemistry and Molecular Biology;2024-05

2. Diversity of Androgens; Comparison of Their Significance and Characteristics in Vertebrate Species;Zoological Science;2024-01-24