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Biomedical subjects

A Cassio

Publications and source records attributed to A Cassio.

At least 19 recordsLinked to original sources
PubMed2006

Influence of gender and pubertal stage at diagnosis on growth outcome in childhood thyrotoxicosis: results of a collaborative study.

OBJECTIVE: To evaluate the influence of sex as well as pubertal stage at diagnosis on the growth outcome of childhood thyrotoxicosis. DESIGN: Retrospective, collaborative study. PATIENTS AND METHODS: Longitudinal auxological evaluation in 101 patients (M/F 23/78) for 4.7 +/- 3.1 years subdivided according to pubertal stage at diagnosis into prepubertal (group I) and pubertal (group II). RESULTS: At diagnosis height and bone age (BA) standard deviation score (SDS) were positive both in girls and boys of groups I and II. In boys of group II, height SDS was significantly higher than in girls of the same group (P = 0.007) and in boys of group I (P = 0.026). During the follow-up, in group I, height SDS remained positive without significant differences between boys and girls, and in group II, height SDS remained significantly lower in girls than in boys. The age at onset of puberty and the age at menarche were within the normal range. Final height (FH) was within target height (TH) range in all groups The FH SDS and the height gain (FH-TH) were similar in girls and in boys in group I and significantly higher in boys than in girls (P < 0.05) in group II. The boys of group II showed a mean height gain significantly greater than that found in all the other groups. CONCLUSIONS: Despite the advancement of BA at presentation, there were no adverse effects on subsequent growth and FH; the growth outcome seems to be better in boys than in girls in group II.

Adolescent↗
PubMed2000

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

OBJECTIVES: 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. DESIGN: A 'phase A' of screening and clinical monitoring (March 1980-September 1983 and March 1991-December 1997) and a 'phase B' of clinical monitoring only (October 1983-February 1991) were taken into account. PATIENTS: A total of 61 patients (20 salt wasting, nine simple virilizing and 32 nonclassical forms) were genotyped, HLA typed and hormonally tested to understand better the genotype/phenotype relationship and the epidemiology and geographical distribution of associated mutations. The fully genotyped patients were classified into four mutation groups according to the degree of enzymatic activity ('null' and 'A' to 'C'). RESULT: The most frequent genotype alterations were deletion (24.1% classical, 3.3% nonclassical forms), large gene conversion (9.2% classical, 1.7% nonclassical forms), In2 splice (27.7% classical, 15.0% nonclassical forms), I172N (5.5% classical, 10.0% nonclassical forms), V281L (3.7% classical, 43.3% nonclassical forms), P453S (5.0% nonclassical forms). A significant difference (chi2 = 5.101; P < 0.025) in the distribution of classical genotypes was found in Romagna (south-east; incidence 1 : 7437 newborns) compared to Emilia (north-west; incidence 1 : 25 090 newborns). Two putative new mutations were found in our population. Little discrepancy was found between genotype and phenotype. CONCLUSIONS: The high frequency of genotypes 'null' or 'A' in the 'phase A' vs. 'phase B' of our study confirms the usefulness of neonatal screening in preventing the death of male patients with salt wasting forms. The substantial similarity in the mutational spectrum of classical forms found in our study, based on the detection of all the classical patients of a specific area, leads us to believe that the distribution of mutations is due to the inherent characteristics of the gene locus, and that regional effects play a minor role. Prompt neonatal genotyping can be of valuable diagnostic assistance in neonatal screening for the confirmation of the diagnosis in newborns with moderately elevated 17 hydroxyprogesterone levels.

Adolescent↗
PubMed2000

Central precocious puberty: clinical and imaging aspects.

We review briefly the definition of central precocious puberty (CPP), and discuss early puberty and very early puberty. The association of hypothalamic hamartoma and empty sella with CPP is described. The contribution of new imaging techniques - CT, MRI and ultrasound in the differential diagnosis of CPP is discussed.

Brain Diseases↗
PubMed1999

Birth weight affects final height in patients treated for growth hormone deficiency.

OBJECTIVE: Birth weight influences both postnatal growth and the initial response to GH therapy in GH-deficient subjects, but its relationship to final height is uncertain. Therefore, we examined final height results in a group of subjects treated for GH deficiency who were born small, appropriate or large for gestational age (GA). DESIGN: Retrospective study. PATIENTS: 108 GH-treated patients (age at diagnosis 11.1 +/- 2.0 years) affected by idiopathic and isolated GH deficiency (peak < 8 microg/l after pharmacological and/or nocturnal mean GH concentration </= 3.3 microg/l) were examined. Twenty-four had a birth weight < 3rd centile (2300 g +/- 268 - small for GA), 77 between the 3rd and 90th centile (3216 g +/- 317: appropriate for GA) and 7 above the 90th centile (4193 g +/- 143: large for GA). MEASUREMENTS: All subjects reached final height (growth velocity < 0.5 cm/year in the last year of treatment) after hGH treatment (range 33-96 months) at a dose of 20 U/m2/week. The 3 groups of subjects started therapy at a similar height for chronological and bone age. RESULTS: Final height in the small for GA group was - 1.71 +/- 0.93 standard deviation score (SDS), significantly lower than that of both appropriate (- 1.14 +/- 0.83 (P < 0.01)) and large (- 0.70 +/- 0.89 (P < 0.01)) for GA groups. Similarly, the small for GA group had a significantly lower height SDS increment from the start of therapy to adult height (0.54 +/- 0.84) than both the appropriate (0.99 +/- 0.78 (P < 0.05)) and the large (1.49 +/- 0.84 (P < 0.01)) for GA groups. The percentage of subjects with final height above target height was significantly different in the 3 groups: 21% for the small, 38% for the appropriate and 71% for the large for GA groups (P < 0.05). In the whole group of patients there was a positive correlation between birth weight and final height (r = 0.38; P < 0.0001). CONCLUSIONS: The present study showed that our patients, affected by isolated and idiopathic GH deficiency but with different birth weights, despite starting treatment with a similar height and bone age delay, had different auxological outcomes. It seems, therefore, that final height is strongly influenced by birth weight which penalizes the smaller newborns and assists the larger ones.

Adolescent↗
PubMed1999

Randomised trial of LHRH analogue treatment on final height in girls with onset of puberty aged 7.5-8.5 years.

OBJECTIVE: To study the effectiveness of luteinising hormone releasing hormone (LHRH) analogues in improving final height in girls affected by early puberty. PATIENTS: Forty six consecutive girls with onset of puberty aged 7.5-8.5 years randomly divided into two groups: one treated with 3.75 mg triptorelin intramuscularly every four weeks (group 1); and the other with no treatment (group 2). RESULTS: Mean (SD) chronological age at onset of menarche was significantly higher in group 1 than in group 2 (11.9 (1.0) v 10.8 (0.7) years). However, mean (SD) height at menarche (152.7 (7.2) v 152.5 (5.7) cm) and mean (SD) growth after menarche (4.9 (3.0) v 5.4 (2.2) cm) were similar in both groups. The mean (SD) final height was similar in the two groups (group 1, 158.1 (6.2) cm; group 2, 158. 6 (6.0) cm) and not significantly different from target height. Fourteen of 20 patients in group 1 and 12 of 18 patients in group 2 showed final height equal to or higher than target height. Final heights of girls with poor initial height prognosis were significantly lower than those of girls with good prognosis, but in patients with the same initial height prognosis, both groups showed final heights similar and not significantly different from their target heights. CONCLUSIONS: LHRH analogue has no apparent effect on final height in subjects with onset of puberty between 7.5 and 8.5 years.

Analysis of Variance↗
PubMed1998

Low growth hormone-binding protein in infants with congenital hypothyroidism.

We evaluated the circulating levels of GH, insulin-like growth factor I (IGF-I), GH-binding protein (GHBP), and IGF-binding protein-3 (IGFBP-3) before L-T4 therapy in 19 infants with congenital hypothyroidism (CH), aged 12-29 days, diagnosed by neonatal screening and in a group of age- and sex-matched control infants. The same parameters were reevaluated after several months of treatment. Serum GHBP was measured by the high performance liquid chromatography-gel filtration method; serum GH, IGF-I, and IGFBP-3 levels were determined by commercial kits. The hypothyroid patients, before beginning therapy, presented significantly lower GHBP values than controls (P < 0.0001); during treatment, these values increased significantly; however, after 6 months they were still significantly lower than control values (P < 0.01). The pretreatment levels of GH were not significantly different from control values; after 1 month of treatment, GH did not show the decrease observed in controls and, therefore, was significantly higher (P < 0.01). The pretreatment levels of IGF-I were not significantly different from control values, but were lower in patients with severe than in those with mild hypothyroidism. They decreased at about 4 months of life and became significantly lower than control values at about 7 months of age (P < 0.05). In conclusion, it may be hypothesized that the condition of CH induces a change in GHBP expression, perhaps beginning in fetal life. The intrauterine production of IGF-I seems to be independent of the levels of GHBP and partially affected by fetal thyroid function.

Carrier Proteins↗
PubMed1998

[Results of screening of congenital hypothyroidism and iodine excess in neonatal age].

We evaluated the distribution of TSH levels on dried blood spots (Delfia system-threshold value for recall 20 microU/ml) in 27,282 consecutive samples examined during 1993, in the Emilia-Romagna region. We also evaluated, by questionnaire, the frequency of iodine disinfection in the perinatal period in all centers that do blood spots. We also evaluated the distribution of TSH spot values according to the localization of the center in endemic or not endemic area of the region. Among the parameters we considered, only the sampling day (p < 0.02) and the maternity center (p < 0.0001) showed a significant influence on TSH spot values. With regard to the questionnaire, the centers which habitually used iodine disinfection in obstetrics (20/28) showed significantly higher percentages of TSH values over 10 microU/ml than the centers which did not use (3/28) or rarely used (4/28) this type of disinfection (p < 0.0001). The only center which used regular iodine disinfection of umbilical cord in all newborns, showed a percentage of TSH values over 10 microU/ml (25.8%) and a recall rate (2.5%) significantly higher than all other centers (p < 0.0001).

Anti-Infective Agents, Local↗
PubMed1998

[Prevalence of goiter and urine iodine in a school population in an area of the Bolognese Apennines].

We evaluated goiter prevalence and urinary iodine excretion (UIE) in schoolchildren living in three villages of the Appennines in the Bologna district-Castel d'Aiano (CA), Gaggio Montano (GM) and Pietracolora (PC). 175 age-matched schoolchildren living in the urban area of Bologna were considered as control group. In the control area the presence of goiter was documented in 11 out of 175 subjects (6.3%). In the mountain area the presence of goiter was documented in 42 out of 233 subjects (18%) (p < 0.0001 vs control area). In the urban control area the UIE was 159 micrograms/l (median; range 19-298). In the mountain area the UIE was 119 micrograms/l (median; range 10-286) (p < 0.001 vs control area). We observed the highest prevalence of goiter and UIE levels < 100 micrograms/l only in the village of PC, which is still characterized by geographical isolation and rural economy.

Biomarkers↗
PubMed1997

Final height of patients treated for isolated GH deficiency: examination of 83 patients.

The aim of the present study was to evaluate retrospectively the influence of various auxological and laboratory parameters on final height in a group of GH-deficient children after replacement therapy and to compare their final height with that of a group of short children with normal GH secretion and hence not treated. The final height was evaluated of 83 patients (51 males and 32 females) affected by idiopathic isolated GH deficiency and treated with recombinant human GH (hGH) for 2-7 years. Inclusion criteria at the start of treatment were short stature (mean height for chronological age in standard deviation score (SDS) -2.21) due to idiopathic isolated GH deficiency (GH peak < 8 micrograms/l after two pharmacological tests and/or mean GH concentration < 3.3 micrograms/l during the night) and treatment with recombinant hGH for at least 2 years at a dose of 15-20 U/m2 per week by s.c. injection for 6 or 7 days/ week. Mean chronological age at diagnosis was 12.2 +/- 1.7 years; 35 were prepubertal and 48 pubertal. The final height of 51 untreated short stature (mean height for chronological age in SDS -2.13 at diagnosis) subjects (42 males and 9 females: 29 prepubertal and 22 pubertal at diagnosis with mean chronological age 11.6 +/- 2.4 years) with normal GH secretion was also evaluated. In the treated subjects final height SDS was higher than that of the untreated group (-1.3 vs -1.7 SDS; P = 0.01). Both treated and untreated subjects showed a final height lower than target height, but 39% of the treated subjects vs only 20% of the untreated group (P = 0.035) had a final height greater than target height. In the treated subjects this percentage was higher in the patients improving their height for bone age in the first years of therapy. While treated females showed a positive correlation only between target and final height (P = 0.0001), in treated males final height correlated with the Bayley-Pinneau prediction at diagnosis, height for chronological age and bone age at diagnosis and target height. Patients who started therapy before puberty also showed these correlations with data calculated at the onset of puberty, together with a correlation with chronological age at the onset of puberty. When considering the influence of GH response at tests on final height, the percentage of subjects exceeding target height increased progressively according to the severity of the GH deficiency. There was no difference in height gain between the patients starting therapy before or during puberty. The height gain, however modest, obtained by our treated patients, the number of patients with final height greater than target height and the favourable comparison with the untreated short-stature subjects represent a promising result, which could be improved by personalizing treatment.

Adolescent↗
PubMed1996

Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.

OBJECTIVE: Comparative study of the incidence of classic 21-hydroxylase deficiency congenital adrenal hyperplasia (21ase-def CAH) and clinical findings of affected infants diagnosed via newborn screening versus case survey only in the Emilia-Romagna region of Italy. METHODS: Neonatal mass screening (from March 1980 to September 1983-Period A, and from March 1991 to August 1995-Period C) and case survey study (from 1980 to June 1995; case survey alone from October 1983 to February 1991--Period B) were performed by the Regional Referral Center for Neonatal Screening for Endocrine-Metabolic Disease with a laboratory (Central Laboratory, S. Orsola Hospital, Bologna) and clinical (First Pediatric Clinic, University of Bologna, S. Orsola Hospital, Bologna) component. A population-based sample of 420 960 newborns consecutively born in the Emilia-Romagna region from March 1980 to August 1995 were studied. Spot 17-OH-progesterone (nmol/L blood) was tested by the radioimmunoassay method after sample extraction during Period A and by fluoroimmunometric time resolved method without sample extraction during Period C. Serum 17-OH-progesterone (ng/dL or nmol/L) was tested by the radioimmunoassay method (Diagnostic Product Corporation Kit, Los Angeles, CA). The case survey was performed by means of a questionnaire sent to all regional centers dealing with pediatrics, neonatology, endocrinology, and pediatric surgery. RESULTS: Thirteen classic 21ase-def CAH were diagnosed by means of neonatal screening (combined A and C periods). One true and one questionable false-negative cases were identified. The incidence of classical 21-hydroxylase deficiency for the white population was 1:15 518 (95% confidence limits 1:9249-1:28 400) by neonatal screening plus case survey, 1:18 105 (95% confidence limits 1:10 365-1:35 041) by neonatal screening alone and 1:25 462 (95% confidence limits 1:12 925-1:59 043) by case survey alone. The sensitivity and specificity of screening for classic CAH were 83% and 99.8% for Period A and 90% and 99.2% for Period C, respectively. The percentage of salt-wasting forms and the male/female ratio were higher during the neonatal screening period than during the case survey only. Sixty-one percent of classic CAH patients benefited from a prompt diagnosis. Nonclassical 21ase-def CAH cases detected via screening and case survey were also reported. CONCLUSIONS: Even in a region with adequate neonatal services, clinical diagnosis alone of classic CAH might be delayed or misinterpreted and salt-wasting crises could cause neonatal deaths. CAH screening is thus an effective tool for diagnosing affected male infants without a family history of CAH and for preventing salt loss. However, to achieve maximal benefit from screening, quick procedures are necessary for notification of positive results and beginning prompt treatment. The possibility of false-negative cases indicates that clinical observation should never be abandoned, even with ongoing screening programs.

17-alpha-Hydroxyprogesterone↗
PubMed1995

Response to growth hormone therapy in patients with growth hormone deficiency who at birth were small or appropriate in size for gestational age.

OBJECTIVE: To determine long-term growth response to growth hormone (GH) therapy in patients with isolated GH deficiency who had been small for gestational age and in those who had been appropriate in size for gestational age. DESIGN: Longitudinal, case-control study. SETTING: Pediatric clinic, endocrinology center, University of Bologna, Italy. PATIENTS: Sixteen GH-deficient children, small for gestational age with unknown cause, and 16 GH-deficient children, appropriate in size for gestational age, who were matched for chronologic age, bone age, pubertal stage, and target height at the beginning of treatment and were treated for 36 months. INTERVENTION: Recombinant human GH given subcutaneously at a dose of 20 IU/m2 per week in six doses per week for 36 months. MEASUREMENTS: Growth hormone levels (fluoroimmunoenzymatic method), levels of insulin-like growth factor I (radioimmunoassay), and complete 36-months auxologic follow-up. RESULTS: Patients who were small for gestational age had a modest improvement in height for chronologic age but no increase in predicted final height. Patients who were appropriate in size for gestational age had significantly better improvement in both measurements (multivariate analysis of variance: F = 6.3 (p < 0.001) and F = 3.8 (p < 0.05), respectively). Catch-up growth was similar during the first year of therapy for the two groups, after which the linear growth velocity decreased more rapidly in the small-for-gestational-age patients (multivariate analysis of variance: F = 4.9 (p < 0.05)). CONCLUSIONS: The constitutional component of the statural deficiency of small-for-gestational-age children seemed to prevail over hormonal deficiency during treatment with GH. Further follow-up to final height is necessary to evaluate these different responses.

Case-Control Studies↗
PubMed1995

L-deprenyl as an adjunct to low-dose bromocriptine in early Parkinson's disease: a short-term, double-blind, and prospective follow-up study.

The therapeutic efficacy of L-deprenyl (10 mg daily) as an adjunct to low-dose bromocriptine monotherapy (up to 25 mg daily) in patients with early Parkinson's disease (PD) was evaluated in a double-blind placebo-controlled short-term study (11 patients) and subsequently in a long-term prospective open follow-up (21 patients) until L-dopa was required, over a 4-year period. The combined regimen of bromocriptine plus L-deprenyl produced a mildly significant improvement, as shown by the majority of clinical rating scales used after 6 weeks of sustained treatment (as compared to bromocriptine alone and bromocriptine plus placebo). In the prospective long-term study, a stabilization of the clinical status was observed until 12 months of sustained treatment, whereas after that, a gradual worsening of the scores on all motor rating scales occurred. However, at 24 months, fewer than one third of the patients had required L-dopa, a proportion comparatively smaller than that reported in the literature with bromocriptine alone. This finding could be related to the persistence of initial symptomatic effect of L-deprenyl, but a slowing action on the course of the disease process exerted by the monoamine oxidase typeB (MAO-B) inhibitor cannot be ruled out.

Aged↗
PubMed1994

Long-term follow-up and final height in girls with central precocious puberty treated with luteinizing hormone-releasing hormone analogue nasal spray.

OBJECTIVE: To evaluate clinical, hormonal, and auxologic features in a group of girls with central precocious puberty during and after long-term treatment with luteinizing hormone-releasing hormone analogue nasal spray. DESIGN: Clinical survey, before-after trial. SETTING: Pediatric Clinic, Endocrinological Center, University of Bologna (Italy). PATIENTS: Forty-one girls with central precocious puberty were treated for 28 months (range, 12 to 60 months); 25 of them discontinued therapy at a mean chronological age of 10.0 +/- 0.9 years and were followed up for 25 months (range, 6 to 50 months). Twelve patients achieved adult height. INTERVENTION: Buserelin acetate (D-Ser [TBU] LHRH A1-9EA) nasal spray; 1800 micrograms/d subdivided into six intranasal administrations of 300 micrograms each. MEASUREMENTS/MAIN RESULTS: Basal follicle-stimulating hormone, peak gonadotropin values (fluoro-immunoenzymatic method, Eurogenetics, Tessenderlo, Belgium; sensitivity was 0.5 IU/L for luteinizing hormone and 1 IU/L for follicle-stimulating hormone), and estradiol (radioimmunoassay method, DPC Kit, Los Angeles, Calif; sensitivity was 11.01 pmol/L) were significantly suppressed (P < .0001) as of the third month of treatment and increased significantly (P < .01) to pretreatment levels 6 months after discontinuation of therapy. Uterine and mean ovarian volumes, which were stable throughout treatment, appeared significantly higher (P < .05) than before treatment at only 6 months after stopping therapy. In patients with more advanced bone age (according to Greulich and Pyle) at onset of treatment, we observed a more significant improvement of SD score for height (Tanner). Mean adult height in our patients was 159.5 +/- 6.1 cm, and the variables that were significantly associated with final height were height age/bone age ratio at onset and target height (according to Tanner). CONCLUSIONS: Long-term buserelin treatment administered nasally is effective because of completeness of inhibition, quick reversibility after treatment is stopped, and lack of side effects. Its auxologic results are different depending on bone age advancement at onset, which represents a predictor of "therapeutic success." Further follow-up would be useful.

Administration, Intranasal↗
PubMed1994

Empty sella in children and adolescents with possible hypothalamic-pituitary disorders.

Several computed tomographic scan studies have described empty sellae in children with hypothalamic-pituitary disorders. Magnetic resonance imaging, however, is a more precise technique for visualizing the intrasellar content, such as the stalk and pituitary lobes. Using magnetic resonance imaging, we studied 339 children and adolescents (mean age +/- SD, 12.7 +/- 4.5 yr) with possible hypothalamic-pituitary disorders to ascertain the frequency of primary empty sella and examine its relationships with other intrasellar abnormalities, pituitary function, and adverse perinatal events. One hundred and ninety-three patients had isolated GH deficiency, 43 had multiple pituitary hormone deficiency, 10 had diabetes insipidus, 17 had hypogonadotropic hypogonadism, 5 had idiopathic delayed puberty, 47 had precocious puberty, and 24 had other hypothalamic pituitary disorders of hyperfunction. One tenth (10.9%) of the patients (37 cases) had empty sella, with a marked variation of incidences among the disorders listed above. A statistically higher frequency of subjects with empty sellae was found only in patients with multiple pituitary hormone deficiency. Patients with and without empty sellae were not different in regard to age or sex. The incidence of empty sella in the various groups of patients was as follows: isolated GH deficiency, 8.8% (17 cases); multiple pituitary hormone deficiency, 34.9% (15 cases); hypogonadotropic hypogonadism, 5.9% (1 case); idiopathic delayed puberty, 40% (2 cases); and precocious puberty, 4.2% (2 cases). No patients with isolated diabetes insipidus or other hypothalamic-pituitary disorders had empty sellae. In the patients with empty sellae, abnormalities of the stalk or posterior lobe were found in 1 patient with isolated GH deficiency (5.9%), 13 patients with multiple pituitary hormone deficiency (86.7%), and no patients with puberty disorders. Likewise, adverse perinatal events were found only in 1 patient with isolated GH deficiency and 9 patients with multiple pituitary hormone deficiency. These findings suggest that empty sella is not rare in children and adolescents evaluated for hypothalamic-pituitary disorders, particularly if there is multiple pituitary hormone deficiency. Empty sella can be found regardless of abnormalities of the stalk and posterior lobe, and adverse perinatal events do not seem to be the primary etiological factor. Empty sella is usually associated with pituitary hypofunction, but it can be found in patients with hyperfunction of the hypothalamic-pituitary-gonadal axis.

Adolescent↗
PubMed1994

Value and limits of pharmacological and physiological tests to diagnose growth hormone (GH) deficiency and predict therapy response: first and second retesting during replacement therapy of patients defined as GH deficient.

There is currently a debate about the use of pharmacological and physiological tests to define GH deficiency and predict response to GH therapy. In addition, a good response to therapy has also been described in subjects without GH deficiency. For further information, we reevaluated GH secretion during replacement therapy in a group of children defined as GH deficient and examined response to therapy in the subjects subdivided according to secretion. One hundred eighty four children (113 boys and 71 girls) initially diagnosed with GH deficiency by means of pharmacological (peak < 8 micrograms/L after arginine and L-dopa tests) and physiological tests (mean nocturnal concentration < or = 3.3 micrograms/L during sleep test) underwent the same tests 2.8 +/- 1.1 yr after start of GH therapy. Sixty eight patients were retested 1.5 +/- 0.4 yr after first retesting. At diagnosis 122 subjects had pathological pharmacological and physiological tests (group A), 30 subjects normal sleep test with pathological pharmacological tests (group B), and 32 subjects pathological sleep test with normal pharmacological tests (group C). At diagnosis 140 subjects were prepubertal and 44 pubertal. To evaluate response to therapy in relation to GH secretion at diagnosis and at both retestings, a number of auxological parameters were calculated during treatment. At first retesting, 107 subjects (58.1%) changed initial group of diagnosis, 34 of whom (18.5%) presented normal secretion in both pharmacological and physiological tests (group D). At second retesting, 31 of the 68 subjects reexamined (45.6%) changed first test results, and 33 (48.5%) reverted to the initial group of diagnosis; none of the 6 subjects of group D maintained normal secretion. Although the percentage of normalized subjects was higher in pubertal subjects (36.4%; P = 0.0003) than prepubertal subjects (8.9%), puberty did not prevent a reduction of secretion in some subjects. Response treatment during the first year of therapy was similar in the various groups. GH secretion seems to change in both prepubertal and pubertal children diagnosed with GH deficiency when pharmacological and physiological tests are repeated over time. Moreover, such tests may not represent a reliable tool for predicting response to treatment. GH secretion normalization at retesting may not necessarily represent the end of a transient secretory defect.

Adolescent↗
PubMed1994

[Models of the organization of neonatal screening].

The authors evaluate the different organizational strategies of a congenital hypothyroidism screening program. Positive and negative aspects of laboratory screening tests (TSH only, T4-supplemental TSH, TSH and T4), organization strategies (centralization or decentralization), recall and first follow-up criteria are examined. The authors consider that the necessity for an early diagnostic confirmation can be associated with a precise etiologic diagnosis and an evaluation of the prenatal severity of congenital hypothyroidism factors. Some European and North-American experiences are compared with the activity of a regional Italian screening center.

Congenital Hypothyroidism↗
PubMed1990

Incidence of intratubular germ cell neoplasia in androgen insensitivity syndrome.

Gonadal histology was investigated by means of conventional microscopy in 6 patients with complete androgen insensitivity syndrome, in 11 with incomplete androgen insensitivity syndrome, and in 3 with 5 alpha-reductase syndrome. Twelve subjects were prepubertal and 8 pubertal. In all patients gonadal tissue was removed as a prophylactic measure and no patients gave rise to any clinical suspicion of a tumour. Eight patients with incomplete androgen insensitivity syndrome, 5 of whom (62.5%) were prepubertal, showed intratubular germ cell neoplasia and in 6 of them it was bilateral. Histochemical and immunohistochemical analysis showed considerable agreement between atypical morphological aspects and positive response to Schiff's periodic acid and to staining with the anti-placenta alkaline phosphatase antibody. Our patients were characterized by one of the highest reported incidences of intratubular germ cell neoplasia, particularly at prepubertal age. These findings would seem to indicate that a rethink is needed concerning the general opinion that patients with androgen intensivity syndrome have practically no risk of developing malignancy, and that orchidectomy is not advisable before puberty is completed.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗