Clinical Analysis Of 4 Cases Of Testicular Adrenal Rest Tumor

Objective;To explore the clinical manifestations,metabolic profile and genetic characteristics in patients with testicular adrenal rest tumor.To analyze the phenotype,genotype,pathological characteristics,treatment and follow-up.To explore the choice of qualitative diagnosis and treatment scheme in patients with testicular adrenal rest tumors,in order to provide experience in the clinical diagnosis and treatment.Methods:4 patient admitted to the Provincial Hospital affiliated to Shandong University from March 2017 to March 2019 were involved in this study.All patients underwent a physical examination with testicular palpation,scrotal ultrasonography,a blood sample for ACTH.?COR.?serum testosterone,FSH,LH,androstenedione and 17-OHD measurements.Sperm analysis was performed in patient 1 and 2.4 patient all received glucocorticoid treatment,and follow-up results were analyzed.Results:1.A11 the four patients had simple virilizing form of CAH.The mean age was 25 years(range:20-27).The average height of them are 157cm,lower than in a reference population.2.Biochemical testing revealed elevated ACTH,DHEA-S,17-hydroxyprogesterone levels,normal TO,aldosterone,sodium and potassium levels.FSH and LH levels were significantly lower than normal range.Severe oligospermia or azoospermia was found in patient 1 and patient 2.3.Ultrasound revealed testicular adrenal rest tumor in four patients;all of them were bilateral,located near the testicular mediastinum.These nodules has an uneven echo.and the the largest testicular nodule isabout3.8x2.5x2.7cm and almost occupies the testicular parenchyma.4.Biopsy of the nodules were performed in patients 1 and 2 Microscopically,the biopsy of testicular tumors in the two patients showed similar morphological features.Polygonal cells with abundant eosinophilic cytoplasm and round central nuclei were found.Some of the cells contained lipochromepigment.There was mild nuclear pleomorphism without mitotic activity.The sheets and nests were separated by thin fibrous septa.Reinke's crystals were not found.Both cases showed positive diffuse or patchy staining foralpha-inhibin,melanA,calretinin,CD56,synaptophysin and chromogranin.5.Molecular analysis was performed in four patients.Patient 1 was homozygous for the p.I172N(c.518T>A)mutation,typical for the SV form.And patient 4 was homozygous for the slice mutation(c.293-13A/C>G).A compound heterozygous mutation,including a splice site mutation(c.293-13C>G),and a missense mutation(c.518T>A)were revealed in patient 2 and 3.6.Follow-upAll patients were treated with glucocorticoids:Patient 1 was treated with oral dexamethasone tablets 0.5 mg daily.After 6 months,follow-up FSH 3.28mIU/L,LH 2.48mIU/L,all within the normal range,dehydroepiandrosterone 3.72ng/ml,17?-hydroxyprogesterone 4.02ng/ml,testicular ultrasound showed left testicular knot Section was 0.7x0.6cm,right testicular nodules was 0.4x0.3cm,semen examination semen volume,semen PH,sperm motility,sperm speed were in normal range.Patients 2 and 3 taking hydrocortisone treatment after 2 months.Follow-up shows:that the level of ACTH and cortisol decreased after treatment and the FSH lever rose to normal range.Testicular nodules reduced in size but still exist.This may consist with the short duration of treatment,and the half-life of hydrocortisone is short.Patient 4 received a daily treatment with prednisone(5mg/d),and the treatment compliance was poor.After 2 years,the testicular nodules were enlarged because of non-adherent to therapy.The testicular ultrasound showed that only a small amount of normal testicular tissue remainedConclusion:1.Testicular adrenal residual tumors usually have clinical manifestations such as precocious puberty,abnormal testicular enlargement,and infertility.2.Pathological biopsy results need to be differentiated from testicular ledying tumors to avoid unnecessary surgery.3.Testicular ultrasound is an effective means of detecting residual adrenal gland tumors.Early screening of TATRs for ultrasound and intensive treatment with glucocorticoids can prevent testicular dysfunction.Ultrasound screening helps timely diagnosis and adjustment of therapy.