PMC9309221_01
(A) Perineal region and vulva of patient on presentation to VMCVM; (B) Noted bilateral, non-pruritic alopecia on presentation of patient to VMCVM, and (C) Patient 6 months after recovering from surgery:noted significant hair regrowth.
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F1
On presentation, the patient had vulvar swelling (Figure 1A) as well as generalized alopecia with hyperpigmentation (Figure 1B). The patient's skin and coat changes reversed, and the patient has a normal powderpuff coat (Figure 1C).
A subgross image (A) of the tissues reveals irregular testicular tissue with alternating areas of solid masses and cystic change, focally bordered by epididymal and vascular structures (B). Within the tissue are multifocal Leydig cell tumors (C) characterized by nests of polygonal cells with granular to vacuolated eosinophilic cytoplasm (D), that occasionally contain eosinophilic granules (D, insert). Remaining tubules are expanded by massively proliferative Sertoli cells forming intratubular neoplasi (E), characterized by haphazard piles of elongated cells (F) that occasionally palisade around a central eosinophilic matrix (F, insert).
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F2
Two presumed gonadal structures were located near the level of the urinary bladder (Figure 2A). Histopathologic evaluation revealed extremely irregular testicular tissue with distinct features (Figures 2B-F). Multifocally throughout the remaining tissue, areas of seminiferous tubules were effaced and replaced by a second neoplasm composed of polygonal cells (interstitial cells) arranged in cords and vague nests supported by a fine fibrovascular stroma (Figures 2E,F). Anisocytosis and anisokaryosis were moderate and the mitotic rate was <1 in 10 to 40 x fields (Figure 2F).
Cytogenetic and molecular cytogenetic analysis of blood leukocytes. (A) G-banded karyotype (left) and corresponding metaphase (right) of a 78,XX cell; (B) G-banded karyotype (left) and corresponding metaphase (right) of a 78,XY cell; (C) FISH with cat X chromosome painting probe (green; arrows) in a 78,XX cell, and (D) FISH with cat X chromosome painting probe (green; arrow) and dog Y-specific TSPY probe (red; arrow) in a 78,XY cell.
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F3
Karyotyping and molecular cytogenetic analysis of sex chromosomes by fluorescence in situ hybridization (FISH) was conducted from blood lymphocyte and primary skin fibroblast cultures as described elsewhere (Figure 3).
Agarose gel images showing PCR results with the sex determining region in Y, SRY (left panel) and X-linked androgen receptor gene, AR (control) on DNA templates from blood lymphocytes, hair, and skin fibroblasts together with male and female controls.
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F4
Androgen Receptor (AR) gene served as a positive PCR control with the following primers: F 5'- GCTACCTGGCTCTGGATGAG-3' and R 5'- AAGGAGTTGCATGGTTCCAG-3'; product size 266 bp (Figure 4). A total of 55 metaphase cells were analyzed from blood, with 7 cells karyotyped.