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Familial Partial 17,20-Desmolase and 17α-Hydroxylase Deficiency Presenting as Infertility

Purpose: Females with 17α-hydroxylase/17,20-desmolase deficiency normally present with amenorrhea, sexual infantilism, hypertension, and hypokalemia. We report on a new clinical presentation of this combined enzymatic defect. Methods: Four Jewish women from two unrelated families presented with prim...

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Bibliografische gegevens
Hoofdauteurs: Levran, David, Ben-Shlomo, Izhar, Pariente, Clara, Dor, Jehoshua, Mashiach, Shlomo, Weissman, Ariel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Kluwer Academic Publishers-Plenum Publishers 2003
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3455798/
https://ncbi.nlm.nih.gov/pubmed/12645864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1023/A:1021206704958
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