Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia.

The original description of patients with Russell-Silver syndrome included precocious puberty, the mechanism of which was unclear. We describe a child with a Russell-Silver syndrome-like phenotype who presented with precocious puberty that was associated with hyperplasia of the Sertoli cells. The patient was found to have an immature cryptorchid testicle; hyperplastic Sertoli cells were also aneuploid carrying trisomy 8. This chromosomal abnormality was present in Sertoli cells only and could not be detected in peripheral lymphocytes, tunica vaginalis, or other, normal, testicular tissue. Sertoli cells in culture showed excess aromatization providing an explanation for the rapid advancement of the patient's bone age. We conclude that in a patient with a Russell-Silver syndrome-like phenotype, Sertoli cell hyperplasia was associated with somatic trisomy 8, increased aromatization, and gonadotropin-independent precocious puberty.

[Usefulness of the integration between the values of the 1-hour blood xylose test and the hydrogen breath-test after xylose oral load for the indirect evaluation of mucosa damage]. / Utilità dell'integrazione tra i valori del test della xilosemia dopo 1h, e del breath-test dell'H2 dopo carico orale di xilosio per la valutazione indiretta del danno mucosale.

Considering 50 children affected by sub-acute gastrointestinal diseases by severe growth disorders, we have compared the "one-hour blood xylose test" with the "xylose and lactose H2 breath test, looking for a relationship with the duodeno-jejunal mucosal damage. Finally the integration between the "one hour blood xylose test" and the "xylose H2 breath test" may be useful in order to compare more exactly the results of both xylose tests with the mucosal damage. Lactose H2 breath test seems less reliable for our purposes because of the possible presence of children with lactase deficiences, hardly comparable with the mucosal damage.