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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 1997  |  Volume : 8  |  Issue : 1  |  Page : 36-39
Sertoli Cell Tumor of Testes in a Child with Peutz-Jeghers syndrome

Pediatric Unit, King Hussein Medical Center, Amman, Jordan

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The Peutz-Jeghers syndrome (PJS) is known to be commonly associated with ovarian tumors. However, its association with testicular tumors is uncommon. We report an eight-year old boy who presented with gynecomastia and had Sertoli cell tumor of both testes with high aromatase activity. To the best of our knowledge, this is the seventh such case being reported in the literature and the presenting manifestation in all seven was gynecomastia.

Keywords: Peutz-Jeghers syndrome, Sertoli cell tumor, Testis, Gynecomastia.

How to cite this article:
Hasan MA, Al Wahadneh A M, Izzat M, Khanan M. Sertoli Cell Tumor of Testes in a Child with Peutz-Jeghers syndrome. Saudi J Kidney Dis Transpl 1997;8:36-9

How to cite this URL:
Hasan MA, Al Wahadneh A M, Izzat M, Khanan M. Sertoli Cell Tumor of Testes in a Child with Peutz-Jeghers syndrome. Saudi J Kidney Dis Transpl [serial online] 1997 [cited 2022 Nov 27];8:36-9. Available from: https://www.sjkdt.org/text.asp?1997/8/1/36/39401

   Introduction Top

The  Peutz-Jeghers syndrome More Details (PJS) is an autosomal dominant inherited syndrome characterized by muco-cutaneous pigment­ation and intestinal polyposis [1] . Multiple, round and oval, blue-black or dark brown macules measuring 1 to 12 mm occur typically on the lips, particularly the lower lip, as also on the mucous membrane of the gums, hard palate, genitalia and perianal region. They may also be evident on the face, hands, eye lids and conjunctiva [2] . The pigmentation generally occurs in early childhood, but may develop later also [3] . Those on the oral mucosa remain constant, while those present elsewhere often fade. Malignant changes have been reported to occur in the gastrointestinal polyps, in 2-3% of patients [4] . Also, PJS is known to be associated with various neoplasms and disorders outside the gastrointestinal tract at sites such as ovary, breast and eyes [5],[6],[7],[8] .

Reports exist citing the association of PJS with ovarian tumors [5],[9],[10] . However, the occurrence of sertoli cell testicular tumors is uncommon. We herewith report a young boy who presented with bilateral testicular tumors in association with PJS.

   Case Report Top

A nine-year old boy, the only child of non-­consanguineous Caucasian parents, was born after a full-term normal gestation. Pregnancy and delivery were normal and the infant's birth weight was 3.7 kg. The boy had uneventful infancy and the psycho­motor development was normal. He was reported to have bilateral hydrocele at birth which gradually enlarged in size, as also to have a lump in the right breast which developed when he was a few months old. At six years and seven months of age, he was referred to a pediatric surgeon for surgical correction of the hydrocele as well as evaluation of marked bilateral gynecomastia. Following surgery for hydrocele, the boy was referred to an endocrinologist for further investigation of gynecomastia. There was no history of exposure to any drugs and no family history of PJS, The heights of the boy's father and mother were at 95th and 50th percentile respectively.

Examination revealed a tall boy, whose height and weight were at 97th and 90th percentile respectively. He had hyper­pigmented macules over the lower lip and buccal mucosa. He also had marked bilateral tender gynecomastia, Tanner's stage II-III; no discharge could be expressed through the nipple. The testes were descended, normal sized bilaterally and the penis was pre-pubertal. There was no pubic or axillary hair. The child's blood pressure was normal.

Results of biochemical analysis revealed pre-pubertal serum levels of thyroid stimulating hormone (TSH), free thyroxine (FT4), alfa­feto protein, sex hormone binding globulin, testosterone and estradiol, assayed on three different occasions. The levels of luteinizing hormone (LH), follicle stimulating hormone (FSH), prolactin and angiotensin converting enzyme were within normal limits. The 24 hours urinary steroid excretion was normal. The serum estrogen level was undetectable.

Radiological studies revealed that the child's bone age was consistent with his chronological age. Barium meal x-ray and follow-through showed gastric dilatation with sub-optimal mucosal coating; no obvious gastric polyps were seen. Abdominal and testicular ultrasound showed several small foci of calcification within the right testis and a single tiny echogenic focus in the left testis. No adrenal masses could be identified. The overall impression was that the appearance of the testes, particularly on the right side, was suggestive of a neoplasm.

Open biopsy of both testes revealed normal shape and equal size of both testis. Histological examination revealed immature seminiferous tubules consistent with the age of the child. In addition, scattered nodules of dilated seminiferous tubules lined by large mature proliferating  Sertoli cells More Details were seen [Figure - 1]. A more appropriate description would be Sertoli cell tumorlets since the proliferation was in the form of multiple nodules bilaterally. The tubular nests were well circumscribed and showed no mitotic activity; also there was no evidence of vascular invasion. The histological diagnosis was consistent with bilateral testicular Sertoli cell tumorlets.

The aromatase activity was measured in the testicular biopsies and the levels detected were: right testis, 1183 pmol/h/g protein; left testis 1358 pmol/h/g protein. These values were much higher than what is found in normal adult testis (33 pmol/h/g protein) [11] .

   Discussion Top

The co-existence of ovarian sex cord tumors with annular tubules and PJS has been reported to occur more frequently than by mere chance; Young, et al reviewed 74 cases of ovarian tumor of whom, 27 had coexisting PJS [5] .

However, testicular tumors have been very infrequently reported in patients with PJS. To the best of our knowledge, our patient is the seventh such case reported. The clinical findings, biochemical assay and ultrasound, findings in our case excluded causes of gynecomastia such as congenital adrenal hyperplasia, true precocious puberty or ectopic gonadotropic production. The enzyme aromatase converts androstendione and testosterone to estrone and estradiol respectively. Our patient had elevated testicular aromatase activities which could have caused the gynecomastia. However, the serum estradiol level was not increased as was reported in a previous case [11] .

Howard, et al [11] described a 4-years and three months old boy with gynecomastia and bilateral testicular tumor; spermatic vein sampling revealed high estradiol as well as high aromatase activity measured in homo-genates of testicular biopsy. Cantu, et al [12] described a 6-year old boy with left testicular tumor of 7 mm diameter formed by tubules filled with Sertoli cell; after orchidectomy the serum estrogen level came down to pre-pubertal level, follow-up for two years revealed that the child remained well. However, bilateral mastectomy was performed for psychological and esthetic reasons.

Dubois, et al [13] reported a 3-year old boy who presented with gynecomastia and left testicular tumor; testis was removed and found to be diffusely enlarged with ovoid lobulated mass replacing three fourth of the testis. The child had pubic hair Tanner stage II, and the penis was 6 cm in length. Two years post-left orchidectomy, the sex hormone levels were pre-pubertal and gynecomastia regressed slowly.

Wilson, et al [14] described a 6-year old boy who presented with gynecomastia and bilateral testicular tumor classified as large cell calcifying Sertoli cell tumors. Testicular ultrasound revealed multiple echogenic areas ranging in size from 13-25 mm.

Young, et al described two young boys with PJS and multicentric sertoli cell testicular tumors. Both boys had gyneco­mastia, rapid growth and advanced bone age [15] .

It has been considered that testicular tumors represent 1.5% of childhood cancer; tumors of germinal cell origin are the most common with embryonal carcinoma of the testis being the single most common testicular tumor in childhood. This tumor is malignant and rapidly growing and is characterized by high serum levels of alfa­feto protein. On the other hand, Sertoli cell tumor in general occurs in patients of all ages. Also, of 128 cases of Sertoli cell tumor found in literature, only 12% were known to have a malignant course [16] ; in many other cases the follow-up was inadequate to evaluate malignancy.

Only seven cases of testicular tumor in association with PJS have been described so far including ours. Whereas the incidence of PJS is equal in both sex groups, the occurrence of ovarian tumors far outnumber the testicular ones. It could be explained by the frequent changes of hormonal activity in the ovary during menstrual cycles. Gynecomastia has been described in 26% of benign Sertoli cell tumor and in a majority, regressed following surgery, although a few cases of Sertoli cell tumor had evidence of virilization or precocious puberty [16] .

The reason for all seven children to seek medical attention was gynecomastia. This tumor mostly presents in children under two years of age as substantiated in a review done by Weitzner, et al [17] who found that, out of 23 cases, 15 were under seven months of age. It may therefore be suitable to screen all children with PJS for testicular tumor in order to speed up the diagnosis and to save the child extensive investi­gations, particularly because Sertoli cell tumor might be associated with hormonal production.

   References Top

1.Smith DW. Recognizable patterns of human malformation. Genetic, embryologic and clinical aspects. Major Probl Clin Ped'iatr 1982;7:1-653.  Back to cited text no. 1    
2.Traboulsi EL, Maumenee IH. Periocular pigmentation in the Peutz-Jeghers syndrome. Am J Ophthalmol 1986;102:126-­7.  Back to cited text no. 2    
3.Dewan PA, Hope JK. Peutz-Jeghers syndrome.Aust N Z J Surg 1985;55:613-6.  Back to cited text no. 3  [PUBMED]  
4.Reid JD. Intestinal carcinoma in Peutz­-Jeghers syndrome. JAMA 1974;229:833-4.  Back to cited text no. 4  [PUBMED]  
5.Young RH, Welch WR, Dickersin GR, Scully RE. Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with ademona malignum of the cervix. Cancer 19S2;50:1384-402.  Back to cited text no. 5    
6.Solh HM, Azoury RS, Najjar SS. Peutz-­Jeghers syndrome associated with precocious puberty. J Pediatr 1983;103(4): 593-5.  Back to cited text no. 6    
7.Riley E, Swift M. A family with Peutz-­Jeghers syndrome and bilateral breast cancer. Cancer 1980;46:815-7.  Back to cited text no. 7  [PUBMED]  
8.Gass JD, Glatzer RJ. Acquired pigmentation simulating Peutz-Jeghers syndrome: initial manifestation of diffuse uveal melaiiocytic proliferation. Br J Ophthalmol 1991;75:693-5.  Back to cited text no. 8  [PUBMED]  [FULLTEXT]
9.Clement PB, Young RH, Scully RE. Clinical syndromes associated with tumors of the female genital tract. Semin Diagn Pathol 1991;8(4):204-33.  Back to cited text no. 9    
10.Ferry JA, Young RH, Engcl G, Scully RE. Oxyphilic Sertoli cell tumor of the ovary: a report of three cases, two in patients with the Peutz-Jeghers syndrome. Int J Gynecol Pathol 1994;13(3):259-66.  Back to cited text no. 10    
11.Coen P, Kulin H, Bailantine T, et al. An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia. N Engl J Med 1991;324(5):317-22.  Back to cited text no. 11    
12.Cantu JM, Rivera H, Ocampo-Campos R, Bedolla N. Peutz-Jeghers syndrome with feminizing sertoli cell tumor. Cancer 1980;46:223-8.  Back to cited text no. 12    
13.Dubois RS, Hoffman WH, Krishnan TH, et al. Feminizing sex cord tumor with annular tubules in a boy with Peutz-Jeghers syndrome. J Pediatr 1982;101:568-71.  Back to cited text no. 13  [PUBMED]  
14.Wilson DM, Pitts WC, Hintz RL, Rosenfeld RG. Testicular tumor with Peutz-Jeghers syndrome. Cancer 1986;57:2238-40.  Back to cited text no. 14  [PUBMED]  
15.Young S, Gooneratne S, Straus FH, Zeller WP, Bulun SE, Rosenthal IM. Feminizing sertoli cell tumors in boys with Peutz­-Jeghers syndrome. Am J Surg Pathol 1995;19(1):50-8.  Back to cited text no. 15    
16.Proppe KH, Scully RE. Large cell calcifying sertoli cell tumor of the testis. Am J Clin Pathol 1980;74:607-19.  Back to cited text no. 16  [PUBMED]  
17.Weitzner S, Gropp A. Sertoli cell tumor of testis in childhood. Am J Dis Child 1974;128:541-3.  Back to cited text no. 17  [PUBMED]  

Correspondence Address:
Mojali A Hasan
P.O. Box 6080, Zarka
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Source of Support: None, Conflict of Interest: None

PMID: 18417782

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