case_images: PMC10917934_01
case_images: (A) OM showing part of three seminiferous tubules (T) without GB bodies and a central region of interstitial tissue with numerous GB bodies (dark blue deposits). To be noted the thickened layer of squamous smooth muscle cells around tubules. BL, basal layer. (B) TEM detailing the interface between the basal epithelium of seminiferous tubule and thickened basal layer (BL) around tubules layer (double arrowed yellow line). GB are present in the smooth muscle cells (arrows) and fibroblasts. Insert represents a detail of spermatogonial mitochondria interacting at level of outer membrane.
case_images: fendo-15-1340188-g001.jpg
case_images: PMC10917934_01_fendo-15-1340188-g001.jpg
case_images: f1
case_images: In the present report, we have studied a 42-year-old patient presenting a systemic FD with cardiac (LV Maximal Wall Thickening 24 mm), renal (creatininemia 3.4 mg/dl), skin and eye (Cornea verticillata) involvement and large accumulation of GB3 ( Supplementary Figure S1 ).
case_images: (A) TEM detailing the interface between the basal part of seminiferous tubule and the basal layer around tubules, including a small region of the stroma (right lower side). Sp, Spermatogonia; S, Sertoli's cell; SSMC, Squamous Smooth Muscle Cell; L, Leydig cell; BL, basal layer (B) Detail of the cytoplasm of a Leydig cell (L). Most of the space is occupied by vesicular smooth endoplasmic reticulum (SER) typical of normal cells producing steroid sexual hormones. GBs are absent. A few small dense bodies are present in the cytoplasm which appears very different from GBs in their dimension and structure. N, nucleus.
case_images: fendo-15-1340188-g002.jpg
case_images: PMC10917934_01_fendo-15-1340188-g002.jpg
case_images: f2
case_images: Microdissected tissue fractions were collected on the adhesive caps of the nanotubes and used for nucleic acid extraction ( Supplementary Figure S2 ). Digital OM pictures were collected for each micro-dissected area if needed ( Supplementary Figure S2 ).