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E Cacciari

Publications and source records attributed to E Cacciari.

At least 19 recordsLinked to original sources
PubMed2006

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.

Congenital adrenal hyperplasia (CAH) is most commonly due to 21-hydroxylase deficiency and presents with a wide spectrum of clinical manifestations, from prenatal virilization and salt-wasting in the neonatal period to precocious pubarche and late-onset hyperandrogenic symptoms during adulthood. A limited number of mutations account for the majority of all mutated alleles, but a growing number of rare mutations are responsible for the disease in some patients. By sequence analysis of the CYP21A2 gene, we identified two novel (I171N and L446P) and two rare (R341P and R426H) mutations in seven Italian patients with CAH. One of the patients was diagnosed with mild non-classical CAH and was found to be a compound heterozygote (I171N/V281L), while all other patients showed severe phenotypes with latent or manifest salt-wasting. The residual activities measured after expression of the four mutant enzymes in COS-1 cells were all below 1% towards both natural substrates (17-OH-progesterone and progesterone) compared with the wild-type protein. All four mutations are, thus, associated with severe enzyme deficiency and are predicted to cause classic CAH if found in trans with other mutations causing severe enzyme deficiency.

17-alpha-Hydroxyprogesterone↗
PubMed2005

Final height in a patient with Laron syndrome after long-term therapy with rhlGF-I and short-term therapy with LHRH-analogue and oxandrolone during puberty.

OBJECTIVE: To report our experience on long-term treatment with recombinant-human-IGF-I (rhIGF-I) of a female patient with Laron syndrome (mutation G223G in the GH receptor gene), who received short-term treatment (1 yr) with LHRH analogue at the start of puberty and subsequently with oxandrolone. CASE REPORT: The patient started IGF-I therapy (dose 40 microg/kg bid for 9 months, 80 microg/kg bid until 13.7 yr of age and 120 microg/kg bid thereafter) when she was 7.6 yr old (height -6 sds), and was treated for 9.4 yr until final height (cm 129.7; -5.5 sds). At first signs of puberty (age 12.7 yr; height 116.3; -5.3 sds), LHRH analogue was started (3.75 mg/28 days) and bone age progressed by 6 months in the 12-month period. Growth velocity decreased in the 6-12th month of combined treatment (0.9 cm/6 months), and treatment was suspended. At age 14.8 (height 124.5; -6.6 sds), oxandrolone was added (0.1 mg/kg/day), but after 12 months (height 128 cm; -5.7 sds) bone age increased from 11.5 to 13.5 yr and the drug was stopped. No side effects occurred during the various treatments. Body segments progressed harmonically: there was a tendency towards improvement in the upper to lower body segment ratio and in cranial growth. Only biiliac diameter did not increase during LHRH treatment. During the 9-yr period, body mass index (BMI), subscapular and triceps skinfold centiles did not show any significant variations. CONCLUSIONS: Our patient with Laron syndrome after long-term treatment showed a final result below the initial expectations, confirming that IGF-I used with the present schedule is less effective than GH in GH-deficient patients. LHRH analogue therapy at puberty was associated with a slower bone age maturation but with an almost complete arrest of growth. On the contrary, oxandrolone sustained growth but caused an excessive maturation of bone age. Other strategies are necessary to improve final height in these patients.

Age Determination by Skeleton↗
PubMed2004

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is most commonly due to 21-hydroxylase deficiency and presents a wide spectrum of clinical manifestations from a severe classical form to a milder late-onset form with a variable severity of hyperandrogenic symptoms. A limited number of mutations account for the majority of the mutated alleles, but additional rare mutations are responsible for the symptoms in some patients. By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. The two amino acid substitutions were reconstructed by in vitro site-directed mutagenesis, the proteins were transiently expressed in COS-1 cells, and enzyme activity toward the two natural substrates (17-hydroxyprogesterone and progesterone) was determined. The A15T mutant exhibited no significant difference in activity compared with the wild-type protein, whereas the P482S mutation reduced enzyme activity to 70% of normal. This impairment of activity was confirmed in vivo by detection of heterozygote carriers by the ACTH test.

Adolescent↗
PubMed2003

Gonadal function and pubertal development after treatment of a childhood malignancy.

As survival rates for childhood cancer have improved, the importance of assessing gonadal dysfunction caused by alkylating agents and radiotherapy in children treated for cancer has increased. Infertility is the major long-term side effect of chemotherapy (CT) in males, whereas Leydig cell function is less affected. Our studies confirm that prepuberty does not protect the male gonad from the late effects of CT and that protocols less gonadal-lesive (such as ABVD regimens) should be preferred. Ovaries are less affected, but early depletion of follicles and premature menopause may occur. High-dose busulfan conditioning regimens cause ovarian failure in young females. The role of gonadal irradiation is discussed: high dosages (>2000 cGy) provoke sterility, impaired testosterone secretion in males and estradiol release in females. High dosage hypothalamic-pituitary irradiation causes delayed puberty and hypogonadism in males and females, whereas lower dosages may be associated with early puberty, particularly in females.

Antineoplastic Agents↗
PubMed2002

Italian cross-sectional growth charts for height, weight and BMI (6-20 y).

OBJECTIVE: To trace growth charts for height, weight and body mass index (BMI) that apply to the whole Italian population. Different charts were drawn for central-north and south Italy since children in central-north regions are known to be taller and leaner. DESIGN: Cross-sectional study. SETTING: A sample of schoolchildren covering 16 of the 20 Italian regions, with data collected between 1994 and 2000. SUBJECTS: A total of 27 421 girls and 27 374 boys, aged 6-20 y. METHODS: Height and weight were measured using portable Harpenden stadiometers and properly calibrated scales, respectively. SIEDP references are presented both as centiles and as LMS curves for the calculation of standard deviation scores. According to International Obesity Task Force, SIEDP charts for BMI include the limits for overweight and obesity, ie the centiles having, at 18 y of age, the value of 25 and 30 kg/m(2), respectively. RESULTS: The comparison between SIEDP and Tanner et al's charts for height, still in use among most Italian paediatricians, shows that before puberty Italian children are 2-4 cm taller than their English peers. Because of these differences, Tanner's charts fail to detect, when applied to Italian children, 50-90% of short children aged 6-11 y, ie with stature below the 3rd centile of their reference population. Rolland-Cachera et al's centiles for BMI are lower than those of SIEDP standards, mainly during adolescence (up to 6.6 kg/m(2) for the 97th centile), and apply poorly to Italian children. The prevalence of overweight is 27 (boys) and 19% (girls) in south Italy vs 17 (boys) and 10% (girls) in central-north Italy. CONCLUSIONS: These references intend to supply Italian paediatricians with a tool that avoids the use of outdated or inadequate charts, and thus should be suitable for monitoring their patients' growth. SPONSORSHIP: Italian Society for Pediatric Endocrinology and Diabetes (SIEDP).

Adolescent↗
PubMed2001

Final height of short subjects of low birth weight with and without growth hormone treatment.

AIM: To compare final height in two groups of low birth weight children examined for short stature: the first group untreated because of normal growth hormone (GH) secretion, the second treated with human growth hormone (hGH) because of abnormal secretion. METHODS: A total of 49 subjects born at term of birth weight below the 10th centile were consecutively examined for idiopathic short stature. The first group of subjects (n = 20) with normal GH peaks after pharmacological tests (>8 microg/l) spontaneously reached final height. The second group (n = 29) with abnormal secretion were treated with hGH (20 U/m(2)/week) for 36-84 months. At diagnosis the two groups were of similar height for chronological age and bone age, and had similar target height. RESULTS: In both groups final height was significantly lower than target height (-0.65 (SEM 0.20) in untreated cases, -0.61 (0.18) in treated cases). Fewer than one third of subjects had a final height above target height. Final height data of untreated and treated cases were not different. In the treated group the best results were obtained by those subjects who improved their height for bone age after three years of therapy. CONCLUSIONS: Our subjects with birth weight below the 10th centile remained as short adults with final height below target height. Treatment with hGH 20 U/m(2)/week in those diagnosed as deficient was not effective, with final results overlapping those of untreated subjects.

Body Height↗
PubMed2001

Diabetic retinopathy in childhood: long-term follow-up by fluorescein angiography beginning in the first months of disease.

BACKGROUND: Little is known about minimal retinal lesions occurring in the first months of disease in children with type 1 diabetes mellitus (DM). OBJECTIVE: To detect any early retinal change and to evaluate its progression in children diagnosed with type 1 DM. PATIENTS: From 1979 to 1997 we examined by fluorescein angiography at diagnosis or within 15 months from the onset of DM 130 young patients with type 1 DM (mean age at diagnosis 10.08 +/- 2.62 yr). In 112 patients follow-up by fluorescein angiography was performed every 1.26 years with a mean of 5.41 fluorescein angiographies/patient. METHODS: The stage of retinopathy was graded to detect minimal lesions. We also considered sex, pubertal stage, HLA, family history of DM, disease duration and HbA1c levels. RESULTS: At first examination, 14 out of 127 (11%) readable angiographies showed minimal retinal changes. There was no statistically significant difference between the patients with or without lesions for all parameters considered. The 112 patients examined during follow-up were divided as follows: Group A: no retinopathy at first examination; Group A1: no retinopathy during follow-up; Group A2: retinal changes during follow-up; Group B: retinal changes at the first examination. Mean HbA1c value evaluated during the whole follow-up was lower in group A1 than in group A2. HbA1c levels at onset of the disease were significantly different in the three groups: in group A1 it was lower than in group A2 and in group B. CONCLUSIONS: The presence of early lesions in the first year of disease in 11% of patients is probably due to the method of examination, which may detect even minimal retinal changes. This may be correlated to the acute metabolic failure present at the onset of disease. The prolonged follow-up seems to demonstrate that the early changes are not necessarily a negative prognostic factor in the evolution of diabetic retinopathy. We confirm that duration of DM and metabolic control are the main factors influencing the course of retinopathy in these young patients. Early fluorescein angiography is not particularly useful in the management of children with DM.

Adolescent↗
PubMed2001

Lymphocyte dysmetabolism: an immunocytochemical comparative approach in IDDM and control subjects.

We have investigated by immuno-electron microscopy the presence of phosphotyrosine in cells as a whole and in different cell districts (nucleus, cytoplasm, plasma membrane, and mitochondria) in peripheral blood lymphocytes of IDDM (insulin-dependent diabetes mellitus) patients and age-matched controls. Immuno-gold particle density was highest in mitochondria and decreased in cytoplasm, nucleus and plasma membrane. The time dependence of phosphotyrosine labelling after cell isolation was very strong in all subcellular populations, with a fall in immunogold staining after 30 min. Staining levels at zero time were similar in controls and IDDM patients; the loss of phosphotyrosine labelling was much stronger in controls, except in the plasma membrane. Plasma membrane NADH oxidoreductase activity, studied using cytosolic NADH as substrate and assayed with DCIP as acceptor, was significantly increased in IDDM patients, suggesting a response to a deficient mitochondrial energetic activity. The fact that NADH oxidoreductase is a growth factor related to tyrosine phosphorylation pathways raises intriguing questions on the cellular derangement occurring in peripheral lymphocytes in IDDM, although the relationships among the immunocytochemical and biochemical changes is still obscure.

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

Is statural growth predictable in utero? Follow-up from the second trimester of gestation to the 8th year of life.

BACKGROUND: It is well known that birth weight is related to later childhood growth and adult height. It can therefore be hypothesized that this relationship exists also for fetal size before birth. OBJECTIVE: To verify whether a child's final height can be predicted by sonographic biometry in utero. SUBJECTS: We evaluated in 116 healthy children both ultrasound measurements in utero and postnatal measurements at a mean age of 6.0 +/- 1.4 years. METHODS: The following fetal ultrasound measurements were obtained: crown-rump length in the first trimester; biparietal diameter, head circumference and femur length in the second and third trimester. RESULTS: Midparental height of the children was correlated both with crown-rump length in the first trimester and with femur length (FL) in the second and third trimester. Predicted adult height was correlated both with FL in the second and third trimester, while present height of the child was correlated with FL only at the third trimester. CONCLUSIONS: FL showed a close relationship with postnatal measurements. For the extreme values of FL, it seems possible to make quite an accurate prediction of the limits of future height. We can reasonably speculate, therefore, that the basis for the future growth of the child can be found in utero.

Abdomen↗
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

Reduced spontaneous growth hormone secretion in patients with Turner's syndrome.

We evaluated growth hormone (GH) secretion in 81 patients with Turner's syndrome (TS) (mean age 10.7+/-3.6 y) with respect to karyotype, auxological characteristics and growth response to GH treatment (1 IU/kg/wk). None of the patients had spontaneous puberty or had started replacement therapy with estrogens. Thirty-nine patients (48%) had monosomia 45X, 29 (36%) structural abnormalities of the X chromosome and 13 (16%) X mosaicism. Before the start of GH therapy, each patient underwent an evaluation of mean nocturnal GH concentration (MGHC) and 75 patients also underwent 2 pharmacological tests. MGHC of the TS patients did not differ from that of 29 prepubertal GH-deficient girls (GH peaks < 8 microg/l after pharmacological tests) and both groups were lower (p < 0.0001 and p < 0.0005, respectively) than MGHCs of 27 short normal girls (GH peak > 8 microg/l). MGHC of the patients with TS was negatively correlated (p < 0.001) with bodyweight excess (BWE) at multiple regression analysis. MGHC of the TS patients with BWE < 20% was significantly higher (p < 0.02) than that of the TS patients with BWE > 20%, but again did not differ from that of the GH-deficient patients and was lower (p < 0.001) than that of the short normal girls. MGHC did not significantly differ between the 3 groups subdivided according to karyotype. Forty-four percent of the TS patients showed GH responses to pharmacological tests < 8 microg/l. Height velocity SDS at first and second year of therapy was not influenced by MGHC levels, chronological or bone age, target height or BWE. In conclusion, spontaneous secretion in our patients with TS was lower than that of the short normal prepubertal girls and did not differ from that of GH-deficient subjects, even if we excluded overweight patients. The level of GH secretion was unable to predict GH response to treatment.

Adolescent↗
PubMed1999

Helicobacter pylori and type 1 diabetes mellitus in children.

BACKGROUND: Helicobacter pylori is a recognized gastroduodenal pathogen and H. pylori infection is one of the most common bacterial infections, usually acquired during childhood. However, diabetes mellitus is characterized by an increased susceptibility to infections. METHODS: We compared the prevalence of H. pylori infection as well as cytotoxin-associated gene A-CagA-and vacuolating cytotoxin gene A-VacA-positivity in 103 children and adolescents with type 1 diabetes mellitus and in 236 nondiabetic children. We used a novel Recombinant ImmunoBlot Assay-Strip (RIBA SIA) with individual band for whole H. pylori lysate and recombinant CagA and VacA. RESULTS: H. pylori-positive subjects, both diabetics and controls, were significantly older than negative subjects. In the whole group of diabetic patients the prevalence of each of the three reactivities was higher than in control subjects, reaching significance only for lysate. Only diabetic patients over 12 years of age, with a longer disease duration, had a higher prevalence of positive cases, although not significantly so. CONCLUSIONS: In the first few years of disease, diabetic children do not differ from the nondiabetic population. Subsequently they show an H. pylori seroprevalence tendentially higher than that of controls of the same age. Therefore, H. pylori infection acquired in childhood and lasting several years, could be one of the causes of chronic atrophic gastritis, which is more frequent in longstanding diabetes mellitus.

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↗
PubMed1999

Pulmonary function abnormalities in children with Henoch-Schönlein purpura.

Henoch-Schönlein purpura (HSP) is a widespread necrotizing vasculitis affecting small vessels characterized by nonthrombocytopenic purpura. Pulmonary involvement is a rare fatal complication with diffuse alveolar haemorrhage. The objective of this study was to evaluate possible early lung function abnormalities and to establish any relationship with the clinical activity of the disease. Fifteen children with HSP and without clinical or radiological evidence of lung involvement underwent pulmonary function study at the onset of the disease. A sample of 28 subjects matched by age, height, and weight was chosen as a control group. After a mean of 21 months (range 12-43) lung function tests were repeated in 10 of the previously studied children. During the acute phase of the disease the transfer factor for carbon monoxide, measured by steady-state (TL,COss) and single-breath (TL,COsb) methods, was found to be significantly lower in children with HSP than control subjects. There was no significant relationship between pulmonary function tests with symptoms and signs at onset, nor was there any correlation between variables and serum immunoglobulin A (IgA) concentration. In all but two patients, clinical recovery was observed within 6 weeks from the onset of the disease. In one case relapses of purpuric skin lesions were observed during the first 3 months of follow-up. The second case had relapses of purpuric skin lesions and microscopical haematuria during the 12 months following the onset of the disease with characteristic IgA mesangial deposition on renal biopsy. Although the overall mean value of TL,COsb improved from baseline to the second investigation, in both patients the recurrences of clinical signs were associated with a slight impairment of TL,COsb at the second evaluation. These data suggest an early subclinical lung impairment in children with Henoch-Schönlein purpura during the active phase of the disease. The presence of isolated pulmonary function abnormalities was not associated with the subsequent development of lung disease.

Adolescent↗
PubMed1999

Final height of patients with Turner's syndrome treated with growth hormone (GH): indications for GH therapy alone at high doses and late estrogen therapy. Italian Study Group for Turner Syndrome.

We report final height data of patients with Turner's syndrome collected by the Italian Study Group for Turner's Syndrome. One hundred and thirty-five patients reached their final height during GH therapy with different therapeutic regimens (dose and combination). They were divided into 3 groups: group A, 74 patients with high doses of GH (1 IU/kg/week) for at least 2 yr; group A1, GH alone and estrogen therapy added not before 14 yr of chronological age (47 patients, of whom 30 were treated for >4 yr and 10 for >6 yr); group A2, GH plus ethinyl estradiol (17 patients) or GH plus oxandrolone (10 patients); group B, 51 patients with low doses of GH (0.5 IU/kg-week) and high doses of GH for less than 2 yr; and group C, 10 patients with high doses of GH with spontaneous menarche. In contrast to the patients of groups B and C, the patients of group A showed a significantly higher final height (mean, 147.5+/-6.5 cm) than their projected height (mean, 142.9+/-6.4 cm). They showed also a significantly higher final height compared to the subjects of groups B (mean, 145.6+/-5.7 cm) and C (mean, 143.0+/-5.3). Among the patients of group A, the best results were obtained in the patients of group A1 treated with GH alone at high doses and for a longer period (4 yr, 149.3+/-6.4 cm; 6 yr, 153.8+/-4.0 cm). Karyotype, GH secretion, and birth weight did not influence the efficacy of GH therapy. A low target height and a high prevalence of a spontaneous ovarian activity or menarche may negatively influence the effect of GH therapy. Estrogens did not improve final height when added to GH therapy. The use of small doses of oxandrolone was not effective in our experience. GH therapy provides a satisfactory auxological result, especially with high doses of GH alone, given for a long period of time. Optimization of the treatment would seem to require the identification of the ideal age for starting therapy, and this is only possible with a specially designed multicenter study.

Adolescent↗