case_images: PMC11183786_01
case_images: Pelvic MRI, AR gene sequencing chart and family pedigree. (A) Pelvic MR image; the arrows indicate bilateral testicles. (B) AR gene sequencing chart of the patient and the patient's mother; the arrow indicates the location of AR variant. The patient has an AR variant in hemizygosity (c.2359C > T, p.Arg787*), inherited from the mother. (C) family pedigree; the arrow indicates the proband, and the half-black/half-white circle is the carrier.
case_images: fped-12-1400319-g001.jpg
case_images: PMC11183786_01_fped-12-1400319-g001.jpg
case_images: F1
case_images: Figure 1B) had regular menstruation and normal fertility. Four maternal female cousins (III-3, III-4, III-6, III-7; Figure 1B) were unmarried and had never been pregnant but had regular menstruation. Two maternal male cousins (III-5 and III-8; Figure 1B) did not complain of micropenis. The nodules observed on both sides of the pelvic wall were identified as testes (size 11 x 18 mm on the left side, size 24 x 11 mm on the right side), with a slightly high signal on T2-weighted imaging (T2WI) and marked enhancement (Figure 1A). Molecular diagnosis unveiled an AR variant in hemizygosity (c.2359C > T, p.Arg787*), inherited from the mother (Figure 1B,C).
case_images: Laparoscopic view and histopathological pictures. (A) Laparoscopic view of bilateral gonads; arrows point to bilateral gonads. (B) Laparoscopic view of the hypoplastic uterus; arrows indicate a hypoplastic uterus. (C) Vaginogram; the patient has a vaginal length of approximately 8 cm, without the uterus. (D) Excised gonadal tissue; macroscopic aspect. (E,F) histopathological pictures. (E) histopathology revealing seminiferous tubules containing only Sertoli cells (x200); (F) Leydig cell hyperplasia indicated by white arrows (x400); (G) tubular structures resembling fallopian tubes (x40).
case_images: fped-12-1400319-g002.jpg
case_images: PMC11183786_01_fped-12-1400319-g002.jpg
case_images: F2
case_images: Gonad-like tissues approximately 2.5 cm x 1.0 cm in size were observed adjacent to the iliac vessels on both sides (Figure 2A). The bilateral gonads were connected to a uterine-like structure (Figure 2B). Vaginography revealed a vaginal length of approximately 8 cm, with no discernible image of the uterus (Figure 2C). Histopathology examination revealed bilateral gonadal tissue (Figure 2D) with immature seminiferous tubule-like structures under the microscope. The tubules contained only Sertoli cells (Figure 2E) with an absence of spermatogenic cells. Furthermore, significant proliferation of interstitial Leydig cells was observed (Figure 2F). Additionally, structures resembling fallopian tubes (Figure 2G) and mesenteric cysts were identified.