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. 2014 Apr 8;124(5):2071–2075. doi: 10.1172/JCI73186

Figure 1. Phenotypic features of the patient.

Figure 1

(A) CT scan of the patient’s abdomen, revealing asplenia (arrow) and lack of uterus. (B) CT scan of the inguinal region, revealing inguinal testes (arrow). (C) Patient’s peripheral blood smear, with Howell-Jolly bodies (*), target cells (@), and poikilocytosis (#) indicative of asplenia. (D) H&E staining showed paucity of Leydig cells (arrow), lack of germinal cells, and abundance of Sertoli cells. (E) Paraffin-embedded sections of the patient’s testes immunostained with anti-inhibin antibody (brown). (F) Immunofluorescent staining of the proband’s testis with anti–SOX-9 antibody (green) and general nuclear staining with DAPI (red). Positive SOX-9 staining in Sertoli cells was similar in strength in the patient’s testes and in the control testes, which had a higher total number of cells, consisting mostly of germinal and pregerminal cells (not shown). Scale bars: 5 μm (C); 200 μm (D and E); 30 μm (F).