Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency

Adrenogenital syndrome is commonly associated with a deficiency in 21-hydroxylase but can be present in other rare enzymatic blocks. We report here the case of a 31-year-old man who presented with bilateral painful testicle lesions leading to bilateral partial orchiectomy as they were suspected for malignancy. These lesions were finally identified as benign testicle adrenal rest tumors (TARTs), and the patient was actually belatedly diagnosed with primary adrenal insufficiency due to 2 mutations of the CYP11A1 gene encoding the cholesterol side-chain cleavage enzyme (P450scc); the mutations were 940G > A (p.Glu314Lys) and c.1393C > T (p.Arg465Trp). The same mutations were found in his 29-year-old sister, who was then also diagnosed for primary adrenal insufficiency. Deficiency in P450scc is an extremely rare genetic autosomal recessive disorder with around 40 described families in the literature and 30 different mutations. As the diagnosis of delayed onset of P450Scc mutation is difficult, this case illustrates the need for a systematic endocrinological assessment in any case of bilateral testicle lesions, thus avoiding unnecessary surgery.

Partial Orchiectomy: Towards the Demystification

Facing any testicular lesion one must practice a total orchiectomy. Or this principle has been the standard dogma for a long time, it is no longer today. However, the advancement of diagnostic and therapeutic means has highlighted conservative surgery over ablative surgery. In this paper, we report 2 clinical cases of 2 young men with testicular lesions in different contexts, and exposing our arguments and the difficulties faced during the course of care. We also share our results and also those reported in the literature.

Intratesticular Angiolipoma: A Rare Case of Adipose Tissue Presence in the Testis

Introduction. Solid, fat-containing tumors of the testes are extremely rare with only a few cases having been reported so far, contrary to the more frequent occurrence of paratesticular lipomatosis. Testicular angiomyolipomas and gonadal involvement in Cowden’s disease, although infrequently occurring, are known examples of fat-bearing testicular lesions. Hereby, we present an extremely rare case of intratesticular angiolipoma. Angiolipomas are benign tumors of the subcutaneous tissue commonly occurring in the trunk and the extremities. Histologically, they are characterized by ample vascularity and an excess of mature adipocytes. Definitive diagnosis is established by biopsy of the lesion. Presentation of the Case. A 35-year-old patient presented to our andrology outpatient clinic for fertility assessment. Physical examination of external genitalia revealed no significant pathology. Testicular ultrasound however depicted an isoechoic lesion on the upper pole of the right testis measuring 1.8 cm×0.8 cm×1 cm and exhibiting intense arterial flow. After sonographic and MRI investigation, the patient was referred for semen analysis and cryopreservation. Subsequently, the patient underwent testicular biopsy (frozen section biopsy) and right partial orchiectomy. Final histology reported a noninfiltrating testicular angiolipoma. No recurrences have been observed in the follow-up period. Discussion. Angiolipomas, which mainly occur in the trunk and extremities, are classified as infiltrating and noninfiltrating. The diagnosis is based on both clinical and histologic criteria, and the main method of treatment for both types is by surgical excision. The infiltrating type exhibits higher recurrence rates. Conclusion. Angiolipomas commonly occur in the subcutaneous tissue and have been invariably treated by radical excision. Hereby, we report the first case of an intratesticular, noninfiltrating type angiolipoma which was treated by partial orchiectomy.