F. Zappulla

How many cases of true precocious puberty in girls are idiopathic

Fifteen girls with true precocious puberty were examined by computerized tomography. In seven hypothalamic hamartomas were suspected. A pneumoencephalogram was performed in six cases (one patient refused), with the following results. In five, the radiological features were highly suggestive of tuber cinereum hamartoma. All of our patients with pubertal signs appearing before the age of 2 years and 80% of the girls with early menstruation were in the group with suspected hamartoma. The luteinizing hormone and follicle-stimulating hormone levels of these five girls were significantly higher than those observed in the other girls with idiopathic precocious puberty. We conclude that there is a high frequency of small hypothalamic masses (suspected hamartoma) in girls with true precocious puberty (33% of the patients in our group), that it is important to confirm the presence of the mass with pneumoencephalography, and that surgery for diagnostic and therapeutic purposes should be carefully considered, given the absence of any neurologic symptoms for a long time after the appearance of the first pubertal signs.

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia–Romagna region

We have genotyped the patients with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency identified from March 1980 to December 1997 through a combined program of neonatal screening and case survey in the Emilia–Romagna Region (Italy). We have also analysed retrospectively the possible advantages of genotypical neonatal classification.

Airway inflammation and lung function decline in childhood post‐infectious bronchiolitis obliterans

Post‐infectious bronchiolitis obliterans (PBO) is a rare form of chronic obstructive lung disease in children with few data on the pulmonary function outcome and underlying inflammatory process. The aim of this study was to determine the change in lung function over time and to investigate by bronchoalveolar lavage (BAL) the inflammatory characteristics of pulmonary involvement.

EFFECT OF LONG-TERM GH ADMINISTRATION ON PITUITARY-THYROID FUNCTION IN IDIOPATHIC HYPOPITUITARISM

Abstract. Twenty‐four euthyroid children with idiopathic pituitary dwarfism were studied. The euthyroid state for seven of these patients was determined by negative physical examinations, normal plasma T4 assays and normal 131I uptakes. For the other children, thyroid function was evaluated with T3 and T4assays and on the basis of the TRH test. Each of the children was treated with HGH in one of three different ways. The first group (five cases) was given a HGH dose, ranging from 12.4 to 17.2 IU/m2/week. The second and third groups (nine and ten cases, respectively) were treated with 10 and 20 IU/m2/week, respectively. Treatment was carried out for periods ranging from 6 months to 6 years. After no less than 6 months of treatment, and at intervals of 6 months (or some multiple of 6 months) plasma T3 and T4 assays, as well as a TRH test were performed in each patient. In some patients one of the indices was once beyond the upper or lower limit of the normal range (none of the children presented simultaneous abnormal levels of more than one index during the controls). This value, however, returned to within normal limits at the following control. There was no correlation between T3, T4 and TSH with the duration of HGH therapy. There was no significant difference between the groups of children treated with the different HGH doses. These data seem to demonstrate that the risk of inducing an alteration in thyroid function in hypopituitary patients during HGH treatment is very slight, and that the irregularly abnormal thyroid indices observed in some of the children during one of the controls might be an expression of their metabolic status at that moment.

GH, ACTH, LH AND FSH BEHAVIOUR IN THE FIRST SEVEN DAYS OF LIFE

Abstract. 43 neonates, born vaginally after spontaneous labor between the 38th and the 42nd week of pregnancy, were examined. GH and ACTH levels were assayed in 14 newborn infants. LH and FSH were determined in the remaining 29 patients (16 boys and 13 girls). Samples were collected from all infants for the assay of the above mentioned hormones at the 2nd, 6th, 12th and 24th hour of life, then every day for 7 consecutive days. During the whole first week of life plasma GH gave values that were significantly higher than those found in subjects over four years of age. The highest mean value of plasma ACTH was found at the 2nd hour of life (162.2±34.1 pg/ml). Then, there is a significant fall in the hormone level beginning with the 12th hour (p<0.01). Minimum level was reached on the 7th day. Plasma hCG‐LH presents its maximum mean value at the 2nd hour, both in boys and girls (48.5±16.2 and 33.0±24.9 mU/ml, respectively). After this, plasma hCG‐LH decreases progressively. No significant differences between the two sexes were found. Even though the mean values of plasma FSH do not change significantly, during the whole test period, they do demonstrate a sex difference (significantly higher values in the females) from the fifth day afterwards.

The Relationship Between Bleeding on Probing and Subgingival Deposits. An Endoscopical Evaluation

Background: Bleeding on probing (BOP) is an indicator of tissue inflammatory response to bacterial pathogens. Due to anatomical limitations, the entity and physical state of microbial aggregations located under the gingival margin and their relations to BOP have been hardly investigated till now. The recent introduction of the endoscopy has allowed clinicians to observe the subgingival environment in a non-traumatic way. The aim of this study is to evaluate the correlation between BOP and subgingival deposits by using this new technology. Methods: 107 teeth (642 individual sites) from 16 periodontal patients, treated with scaling and root planing, were evaluated for plaque index (PI), gingival index (GI), probing pocket depth (PPD), bleeding on probing (BOP), endoscopic biofilm index (EBI), and endoscopic calculus index (ECI) at one-month revaluation. Results: A linear association between BOP and PD, EBI, and ECI was detected. The BOP provided a high level of specificity but quite low sensitivity values both for ECI (sensitivity 40%, specificity 86%) and EBI (sensitivity 37%, specificity 89%). The BOP sensitivity was directly linked to the amount of subgingival deposits. Conclusions: This study demonstrates a direct relationship between BOP and presence/amount of subgingival deposits. More investigations on larger samples are, however, needed.

Turner syndrome, insulin sensitivity and growth hormone treatment.

Mild insulin resistance appears to be an early metabolic defect in girls with Turner syndrome (TS). Impaired glucose tolerance has been reported in 10–34% of patients with TS, and type 2 diabetes mellitus is 2–4 times more common and occurs at a younger age in girls with TS than in the general population. In a mixed longitudinal and cross-sectional study, we analysed carbohydrate tolerance and insulin sensitivity in 46 children and adolescents with TS who reached their final height after long-term treatment (mean 6.3 ± 2.5 years) with growth hormone (GH: 0.33 mg/kg/week [0.05 mg/kg/day]), and in 36 of these patients who were followed-up after the cessation of GH therapy (mean follow-up, 2.6 ± 2.5 years; range, 1–9.5 years). Patients with TS were compared with an age-matched female control group. Insulin sensitivity appeared to be lower in patients with TS than in controls, even before the start of GH therapy. As in controls, insulin sensitivity decreased with age in patients with TS, and levels were lower in those aged >12 years than in those aged <12 years. GH therapy resulted in good catch-up growth in patients with TS, with final height significantly higher than projected height evaluated before the initiation of GH therapy. Insulin sensitivity increased after 7–8 years of therapy and, on the cessation of GH therapy, returned to pre-treatment levels. The increase in insulin sensitivity seen on the cessation of GH therapy appeared to be influenced negatively by body mass index and triglyceride levels, and correlated positively with the number of years since cessation of GH therapy. As in the general population, excess weight and an abnormal lipid profile, in particular excess triglyceride levels, worsened insulin sensitivity. In conclusion, our study confirms that GH therapy reduces insulin sensitivity, but at its cessation there is a return to pre-therapy values. We therefore report a progressive improvement in carbohydrate tolerance and insulin function in patients with TS, despite an increase in age.

Neonatal Screening for Congenital Adrenal Hyperplasia Using a Microfilter Paper Method for 17-α-Hydroxyprogesterone Radioimmunoassay

We examined 22,233 infants born in Emilia-Romagna (Italy). Capillary blood samples for 17-OH-progesterone assay were collected on the 3rd, 4th, 5th, 6th or 7th day of life on filter paper of the same type used for the screening of aminoacidopathy and hypothyroidism. 17-OH-progesterone values were determined using a micromethod modified from that of Pang and co-workers. 20 pg/disk was considered as a threshold value and called for a second assay, which was performed in 0.18% of the cases. Pathologic values of 17-OH-progesterone were confirmed in the serum of 4 neonates. In our population the incidence of 21-hydroxylase deficiency was found to be 1 out of 5,558 cases.

EFFECT OF OBESITY ON THE HYPOTHALAMO‐PITUITARY‐GONADAL FUNCTION IN CHILDHOOD

Abstract. In 22 normal and 35 obese boys a gonadal function test (2 000 IU of hCG i. m. daily for three days and assays of plasma testosterone before and after the hCG administration) was carried out. All the “short normal” children and 31 obese subjects underwent the LH‐RH test (50 μg i.v.). While basal testosterone was similar in the two groups of children, after hCG testosterone was significantly (p<0.001) lower in the obese boys. In the normal children a significant positive correlation between bone age and basal and after hCG testosterone was demonstrated; this correlation was not found in the obese boys. The pituitary reserve of gonadotrophins did not show significant differences between the two groups of children. Finally a significant positive correlation (p<0.01) between the LH curve area during the LH‐RH test and bone age was found only in the normal boys.

HYPOPHYSO‐GONADAL FUNCTION IN THE DIABETIC CHILD

ABSTRACT. 14 diabetic boys (five with a family history of diabetes and nine without) and 29 “short normal” boys were studied. A gonadal function test (2.000 IU of hCG i.m. for 3 days and plasma testosterone assay before and after the hCG administration) as well as an LH‐RH test (50 μg i.v.) were carried out. While basal testosterone level turned out to be similar in the two groups of children, it was significantly lower (p<0.01) after hCG than the mean value of the control group. This difference was mainly observed in those patients with a family history of diabetes. In the diabetic children, basal LH level was normal and the pituitary LH reserve was lower than in the control group. Both basal FSH level and FSH pituitary reserve were lower than in normal children. These data show that an alteration in the hypothalamus‐pituitary‐gonadal function is already evident in the diabetic child.