Peutz-Jeghers syndrome with feminizing sertoli cell tumor

Abstract

A case involving a 6-year-old boy with Peutz-Jeghers syndrome and an unilateral feminizing Sertoli cell tumor is described. Endocrinologic studies revealed consistently high plasma and urine levels of estrogens and normal levels of testosterone and dihydrotestosterone. The increased levels of estrogens did not show changes that could be correlated with exogenous gonadotropin administration, thus indicating an autonomous nature. The histopathologic studies of nontumorous testicular tissue revealed changes in the seminiferous tubules which suggested that estrogens, directly or indirectly, may have had both stimulating and atrophying effects. It is concluded that gonadal tumors are an additional manifestation of the Peutz-Jeghers syndrome gene in both male and female patients.Cancer 46:223-228, 1980. whose propensity for malignancy is still uncertain.6Jfi~17~z0~2Y Ovarian tumors are more common in women with Peutz-Jeghers syndrome than in the general female p~p u l a t i o n ;~~~*~~~~~ however, no association between Peutz-Jeghers syndrome and gonadal tumors has been reported in the male patient. The purpose of this report is to describe for the first time, the association of Peutz-Jeghers syndrome with a Sertoli cell tumor, to emphasize the variable expressivity and pleiotropism of the causal gene, and to correlate the testicular histopathologic findings with the tumoral endocrine dysfunction. Accepted for publication July 6, 1979. Case Report Clinical and Familial DataThe 6-year-old patient was the second child of nonconsanguineous parents; aged 27 (father) and 28 (mother) years at his birth. The pregnancy, delivery, and psychomotor development were normal. An urethral meatotomy was performed when he was four years old because of congenital stenosis. At five years of age, medical consultation was sought for bilateral gynecomastia with an evolution of about two years; it was progressive, painless, without galactorrea, with slight predominance on the right side and associated with a rapid increase in stature. He also had numerous small (1-4mm) blackish macules on the lips and the buccal mucous membranes, without any additional symptoms. Upon physical examination at five years; seven months of age, the following somatometric data were found: height, 119 cm (above the 97th percentile corresponding to about the 50th percentile for seven and a half years); weight, 24 kg; arm span, 119 cm; upper to lower segment ratio, 1.05; and cephalic, thoracic and abdominal circumferences of 5 2 , 68, and 59 cm respectively. The clinical features included melanosis oris (Fig. l), severe bilateral gynecomastia (Tanner's Stage 111) with immature nipples, and large testes for his age (Tanner's Stage 11-111) measuring 3.5 x 2.0 cm, but with normal morphology and consistency. The penis was normal without evidence of precocious virilization. Ophthalmologically , the propositus showed nonaccomodative alternate esotropia. Laboratory StudiesLaboratory studies including urinalysis, blood cell count, plasma glucose, urea and creatinine, liver ...

Teasing out the role of aromatase in the healthy and diseased testis

“…83 In terms of the testis, the sex cords are the site of tumorigenesis and a total of 35 boys with PJS have presented with testicular Sertoli cell tumors. 36,37,39,59,81,[84][85][86][87][88][89][90][91][92][93][94][95][96][97][98][99][100] In boys with PJS, there is an increase of aromatase expression and activity in these tumors, resulting in excess estradiol production that not only acts to feed local tumor growth, 36,39 but also accelerates testicular and extragonadal morphogenesis. For instance, the obvious clinical manifestations are enlarged testes, pre-pubertal gynecomastia and feminizing precocious puberty, and it has become increasingly numbers and the fact that spermatozoa in these mice display decreased motility, as evidenced by the proven inability to fertilize oocytes in vitro.…”

Gynecomastia and mucosal lentigines in an 8-year-old boy

“…There have been several previous reports in the literature describing the association between gynecomastia and PJS. [1][2][3][4][5][6][7] Not uncommonly, the diagnosis is first suspected when an adolescent patient under evaluation for gynecomastia is discovered to have mucocutaneous lentigines. However, the lentigines usually precede the other clinical manifestations of the syndrome.…”

Peutz-Jeghers syndrome: clinicopathology and molecular alterations

“…Screening for gynecologic malignancies in PGJ females include regular pelvic exams and transvaginal ultrasounds beginning at age 20 years (Table 1). Males with PJS are at risk for development of testicular tumors referred to as large cell calcifying sertoli cell tumors or testicular tumors resembling SCTATs [66,67,70]. Similarly, these tumors are multi-focal, usually small in size and bilateral.…”

“…Taken (Table 1). In addition, affected PJS individuals are at risk for distinctive genital tract, neoplastic and non-neoplastic tumor [65][66][67][68][69][70][71][72][73]. Female patients with PJS are at risk for ovarian sex cord tumors with annular tubules (SCTATs), mucinous tumors of the ovary and fallopian tubes and a well-differentiated adenocarcinoma of the uterine cervix/adenoma malignum.…”