ArticleJournal of pediatric endocrinology & metabolism : JPEM2025
Two families, two pathways: a case series of 46, XY DSD with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novel
Article in Journal of pediatric endocrinology & metabolism : JPEM, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Familial 46,XY disorder of sex development due to a novelJCEM case reports · 2026Article
- Mechanistic and spectroscopic characterization of human CYP17A1 in Nanodiscs.Journal of inorganic biochemistry · 2026Review
- Uncontrolled hypertension in siblings: an unsuspected diagnosis.AJOG global reports · 2026Article
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Authors and funding
5 authors.
Funding
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Abstract
objectives17α-Hydroxylase and 17,20-lyase are enzymes encoded by the CASE PRESENTATION: We describe four patients with ambiguous genitalia who were accurately diagnosed through steroid metabolomics using liquid chromatography- mass spectroscopy (LC-MS). Genetic testing identified a novel homozygous likely pathogenic 5' canonical splice site variant, c.129 + 1G>A in intron 1 of
conclusionsHere, we report four patients with 46, XY disorder of sexual development (DSD) from two families with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to cytochrome b5 variant with a variable spectrum of under-virilization who had received inadequate treatment for a prolonged period of time due to incorrect diagnosis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.