ArticleJCEM case reports2026
Familial 46,XY disorder of sex development due to a novel
Article in JCEM case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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6 authors.
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Abstract
Primary amenorrhea may be the first clinical presentation of an underlying 46,XY disorder of sex development (DSD). We report 2 siblings assigned female at birth; the index case presented with primary amenorrhea and the younger sibling was identified through family screening. Both had female external genitalia with minimal virilization, absent Mullerian structures, and testes located in the inguinal/labioscrotal region on imaging. Hormonal evaluation showed impaired androgen synthesis with very low testosterone and markedly elevated 17-hydroxyprogesterone:androstenedione ratios, suggestive of isolated 17,20-lyase deficiency. Whole-exome sequencing identified a novel homozygous missense variant in exon 2 of the
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