PMC6345100_01
Preoperative MRI revealed oval structures without follicular activity: (A) right side (showed with an arrow) -1 x 1.3 cm, located near the anterior abdominal wall; (B) left side (showed with an arrow) -2.6 x 1.6 cm, located in the left inguinal canal; (C) pelvic MRI fat-suppressed T2 sequence of the right hypogastrium with a residual testicular structure 1.2 x 2.4 x 3.3 cm (showed with an arrow).
fendo-09-00795-g0001.jpg
PMC6345100_01_fendo-09-00795-g0001.jpg
F1
The lesions were characterized as benign; however, imaging could not rule out a premalignant transformation (Figure 1).
Morphologic findings in surgically removed testes. (A) Marked tubular atrophy. Note the thickening and hyalinisation of the basement membrane as well as complete loss of tubular cells (arrows). Haematoxylin-eosin (HE), original magnification (OM) 200x. (B) Absence of spermatogenesis (arrow). Note also the nuclear features justifying the absence of germ cell neoplasia in situ. HE, OM 400x. (C) Extensive hyperplasia of Leydig cells (arrow) adjacent to atrophic tubules. HE, OM 200x. (D) Morphology of Leydig cells (arrow). Note the absence of Reinke's crystalloids. HE, OM 400x. (E) Rete testis. HE, OM 200x. (F) Hyalinisation in an arteriole (arrow). HE, OM 200x.
fendo-09-00795-g0002.jpg
PMC6345100_01_fendo-09-00795-g0002.jpg
F2
After visualization with haematoxylin-eosin stain, the testicular morphology showed extensive atrophic changes in the seminiferous tubules in association with Leidig cell hyperplasia (Figure 2).
Electropherogram of the novel variation in the 6th exon of the AR gene (HGVS nomenclature: NC_000023.11:g.67721928T>G, NG_009014.2:g.182897T>G, NM_000044.3:c.2414T>G, NP_000035.2:p.Phe805Cys).
fendo-09-00795-g0003.jpg
PMC6345100_01_fendo-09-00795-g0003.jpg
F3
Genome Variation Society nomenclature: NC_000023.11:g.67721928T>G, NG_009014.2:g.182897T>G, NM_000044.3:c.2414T>G, NP_000035.2:p.Phe805Cys) was found (Figure 3). Guidelines for variation interpretation by the American College of Medical Genetics (ACMG) were used to analyse the pathogenicity of the novel variation.