No 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 ...

Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers‐Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.

Gerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the distinct facial appearance with sagging cheeks, premature wrinkling of the skin of face, abdomen, and dorsum of hands and feet; malocclusion, span greater than height; hyperextensibility; winging of the scapulae; stooped posture with kyphoscoliosis; protuberant abdomen; and pes planus. Radiologically they had generalized osteoplorosis, platyspondily due to multiple compression fractures, pseudoepiphyses of second metacarpals, and dislocated hips. Three other families with a total of 14 affected individuals have been reported. Inter- and intrafamilial variability can be recognized, particularly regarding the tendency to fractures, upper:lower segment ratio abnormalities, and results of skin biopsies, which have shown fragmentation of the elastic fibers in some cases (including the present family) and not in others. Although inheritance was considered to be X-linked recessive in the first reported family, an analysis of that pedigree together with those of the other reported families, including the present one, suggests that gerodermia osteodrysplastica is inherited in an autosomal recessive manner.

A syndrome characterized by progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, joint hypermobility principally in digits, is described in two unrelated patients. Electron microscopy of the skin showed some fragmentation of the elastic fibers' fibrous portion and moderate electrodensity in the amorphous portion. Since a practically identical constellation of clinical features was previously reported in three patients, the individualization of a distinct connective tissue disorder, probably autosomal dominant, with variable expressivity is concluded.