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. Author manuscript; available in PMC: 2016 Dec 16.
Published in final edited form as: Semin Reprod Med. 2012 Oct 8;30(5):374–381. doi: 10.1055/s-0032-1324720

Figure 2.

Figure 2

Summary of reported changes in SF-1/NR5A1 in humans compared with the structure of SF-1 and to phenotype. Most changes in SF-1/NR5A1 are found in a heterozygous state. Those present in a homozygous state are underlined and an asterix shows where the p.G146A polymorphism was also detected. Missense variants shown in italics are predicted to disrupt function, but have not been studied in functional assays. Changes involving deletions within the NR5A1 locus are not shown. Abbreviations: AI, adrenal insufficiency; DSD, disorders of sex development; POI, primary ovarian insufficiency. (Modified with permission from Lin L, Philibert P, Ferraz-de-Souza B. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab 2007;92:991–999 (copyright The Endocrine Society 2002) and Ferraz-de-Souza B, Lin L, Achermann JC. Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Mol Cell Endocrinol 2011;336:198–205 (copyright Elsevier 2011).19,54) For a complete overview of clinical and biochemical features associated with some of these changes see Köhler and Achermann, 2010.33