Coeliac disease (CD) is a permanent intolerance to gluten that results in damage of the small intestinal mucosa, and it is one of the common causes of chronic malabsorption in children. It is well known that patients with CD are at great risk of malignant complications, but in patients with CD many other disorders have been recognized. Autoimmunity diseases, such as type 1 diabetes mellitus, thyroid diseases, and autoimmune polyglandular syndromes are known to be associated with CD, and they seem to be related to gluten exposure. Growth, bone metabolism, and fertility can be affected in patients with CD, especially if they are not on a gluten-free diet. We review the literature on endocrine aspects of CD, because patients with CD are at great risk of developing endocrine disorders.

Allopregnanolone, a circulating neuroactive steroid hormone, is involved in the modulation of behavioral functions, stress, and the neuroendocrine axis. The aim of this study was to evaluate serum allopregnanolone concentrations in girls with central precocious puberty (n = 12), girls with normal pubertal development at the same pubertal stage (n = 17), and prepubertal girls (age-matched; n = 16). Gonadotropin and steroid hormones (allopregnanolone, cortisol, dehydroepiandrosterone sulfate, and E2) were assessed in all patients. GnRH and ACTH stimulation tests were performed in all girls with central precocious puberty and in some pubertal controls. Basal allopregnanolone levels in girls with central precocious puberty were significantly higher than in normal controls (P < 0.01). Allopregnanolone levels increased significantly after GnRH and ACTH stimulation tests (P < 0.05) both in girls with central precocious puberty and in those with normal pubertal development. There was no difference found between the peak values. In conclusion, our study shows that allopregnanolone is hypersecreted in central precocious puberty, confirming a pubertal stage-related increase in its levels during normal pubertal development. The increase in serum allopregnanolone after GnRH and ACTH stimulation tests demonstrates that both adrenal cortex and gonads are sources of this neuroactive steroid.

The new methods which are currently available have provided substantial help in performing the differential diagnosis of CPP, especially in detecting very early modifications of gonadotropin secretion. Nocturnal sampling is not a practical tool and generates discomfort for patients, and daytime samples do not yet have sufficient sensitivity; thus, determination of LH levels after GnRH stimulation is the most important test. We emphasize that the use of the GnRH agonist test improves the discrimination of the endocrine investigation, making it easier to differentiate CPP from other conditions, such as thelarche. Determination of sex steroids is necessary, but its use in isolation is not recommended.

In this paper, the genetics and molecular biology of the GHRH-GH-IGF-I (Growth Hormone Releasing hormone-Growth Hormone-Insulin like Growth Factor I) axis involved in the pathogenesis of short stature are reviewed. Short stature associated with GH deficiency is estimated to occur in about 1/4000-10,000 live births; 3-30% of cases affect first-degree relatives, suggesting a genetic aetiology. Identification of such molecular defects is very recent and dependent on new findings on the physiology of GHRH-GH-IGF-I axis: for example the pituitary-specific transcription factors and their mutations have only been described in the last few years. The epidemiological importance of the identified molecular defect depends on the level of the axis involved, but the prevalence of some of these genetic defects is probably underestimated. Time will tell what the practical relevance of these findings is and what the clinical features of the new mutations are; we will probably learn something more about the GHRH-GH-IGF-I axis: to date, no mutations have been reported regarding the GHRH gene or the IGF-I receptor.

Diabetes mellitus is one of the main endocrinological disease complicating the course of thalassemia major. This study aimed evaluate beta-cell secretion in 24 patients with thalassemia major attending the hematological Day Hospital at the Pediatric Clinic in Modena where transfusion therapy is performed in all thalassemic patients so as to maintain minimum hemoglobin levels above 10.5 g/dl, together with intensive ferrochelating therapy (desferrioxamine 50-60 mg/kg/die s.c. 6 days a week). A C peptide challenge with glucagon was performed in three patients already receiving insulin therapy for diabetes mellitus; this unexpectedly revealed a slight residual beta-cell secretion. An intravenous glucose tolerance test (IVGTT) was performed in the remaining 21 non-diabetic patients, with widely varying findings regarding insulin secretion: from below 50 microUl/ml in 5 patients to above 200 microUl/ml in 5 patients, and between 50 and 150 microUl/ml in the remaining 11 patients. This study therefore confirmed that insulin secretion frequently alters in thalassemic patients. Moreover, insulin secretion is not correlated to ferritinemia or influenced by familiar diabetes or patient age.

Multiple exostoses syndrome is a rare autosomal dominant disorder that affects the enchondral skeleton during growth. The formation of numerous exostoses causes deformities of bones and joints. Degenerative malignant changes are described. A careful follow up during paediatric age is required. Three new cases in the same family are reported in this paper.

The authors describe a rare case of congenital, bilateral arteriovenous fistulas of the lung, without other symptoms of hemorrhagic telangiectasis. The disease was diagnosed in a ten-year-old child, because of a chronic hypossiemia state. The angiography with digitalized technique defined, at the best, the vascular anomalies; the examen cannot be substituted by other imaging methods. First a therapeutic embolisation in angiography was tried without success because of the dimension of the arteriovenous shunt. Then a local excisional therapy was carried out, on one lung. One year after the operation, the oxygenative and clinical conditions of the patient are excellent.

56 children, aged between 0-13 month, affected by chronic vomiting were evaluated both with ultrasound and radiological methods, in a double blind study. 22/56 children resulted to be affected by gastro-oesophageal reflux (GER) with upper GI series versus 18/56 with ultrasound. Four cases, ultrasound negative and X-ray positive, represented a borderline situation in which a mild gastro-oesophageal reflux is to be considered paraphysiological phenomenon. The accuracy and handleness of ultrasound evaluation in GER are emphasized.

The authors examined 28 children, mean age 12 months (26 days to 5 years), for a suspected gastro-esophageal reflux (GER), by two method of diagnosis: 24 hours continuous pH-monitoring and radiology. They found a first group (11 cases) with both of these methods negative; a second group (7 cases) with GER confirmed by pH-monitoring, but with negative radiology: a third group (6 cases) where both of these methods resulted positive and eventually a fourth group (4 cases) where radiology showed the presence of GER, not confirmed by pH-monitoring. The Authors conclude that continuous pH-monitoring for its accuracy, would have to be only first degree method in diagnosis of GER. In some cases the second level method is endoscopy whereas radiology is a third level one, to show associated malformations.

One hundred forty six children having suffered bacterial meningitis at any age have been collected and retrospectively studied over a period of a twenty year survey (1960 to 1980). In our series we can confirm the prominent epidemiologic and clinical features emerging from the literature. It is notewborty to outline the great percentage of cases lacking any bacterial identification due to previous antimicrobial treatment for parameningeal foci. This raises some major problems about early diagnosis, validity and signification of lumbar punctures, and usefulness of starting treatment with large spectrum antibiotics.

In this article we review the global therapy for purulent meningitis in childhood and present personal data derived from a twenty year survey study (1960 to 1980). We recommend the prompt use of adequate antibiotics at correct doses largely following the intravenous pathway in order to achieve active antimicrobial levels in the cerebrospinal fluid. On the basis of our experience we favour a more large use of either systemic chloramphenicol or intrathecal even in the neonatal period. Moreover, we think glucose infusions should be employed with great caution due to worsening of metabolism (lactate accumulation) and perfusion in the cerebral tissue.

The authors describe 9 children affect by chronic aspecific diarrhea treated with levamisole; the drug was effective in reducing diarrhea episodes during the period of administration in respect to the untreated group. Follow-up of 3-5 months did not show auxological or nutritional differences in the two groups.

929 cases of acute enteritis are reviewed. They were admitted since 1972 to 1981 in the first Pediatric Department of Modena, and treated with dietetic therapy. The periods of stool normalisation according the treatment received are discussed (oral rehydrating therapy versus casein hydrolysate). The results are compared with the evolution of diarrhea in 322 children treated with antidiarrheal adsorbents. According to our experience the diet with casein hydrolysate results to be an effective therapy of acute diarrhea, affording a nearly complete reduction in the use of intravenous infusions.