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A Saviano

Publications and source records attributed to A Saviano.

11 recordsLinked to original sources
PubMed1998

Short stature and body proportion in thalassaemia.

Short stature and short trunk have been reported in thalassaemic patients. We report a study on stature and body proportions in 476 patients (2-36 years old) with beta-thalassaemia major, followed in 12 Italian centres. Auxological data (standing height, sitting height, subischial leg length, target height), haematological data (age at first transfusion, age at start of desferrioxamine [DFX] chelation, mean dose of DFX, ferritin values) and information regarding the presence of endocrine disorders and of bone lesions, were collected and analysed according to the age of the patients, in order to investigate the natural history of the disproportion and the role of siderosis, DFX toxicity and endocrine disorders. Our data indicate that about 18% of thalassaemic patients exhibit short stature; disproportion between the upper and lower body segments is present in 14%; however, a short trunk despite normal stature is present in another 40% of patients. This is due to a spinal growth impairment which starts in infancy and progressively aggravates. We think that a short trunk is peculiar to the disease itself; however, other factors such as hypogonadism, siderosis, or DFX-induced bone dysplasia are probably involved in aggravating the body disproportion in these patients.

Adolescent↗
PubMed1998

Pituitary deficiency and lack of gonads in an XY pseudohermaphrodite with beta 39/lepore haemoglobinopathy.

We describe the occurrence of hypothyroidism and hypogonadotropic hypogonadism in an XY pseudohermaphrodite subject affected by beta-thalassemia. The patient, reared as female, diagnosed at 14 months of age as having a beta 39/Lepore hemoglobinopathy, treated with multiple transfusion therapy, was referred at age of 15 years because of delayed puberty. Complete endocrine evaluation showed low levels, both basal and after combined LHRH-TRH and hCG stimuli, of FSH, LH, TSH, estradiol (E2), testosterone (T), progesterone (P), androstenedione (A), and FT4 levels, and normal PRL, cortisol, 17OHP and ACTH levels. Imaging studies (ultrasound, magnetic resonance, radioisotope scanning and gonadal vessels phlebography) did not show internal genitalia and gonads. Karyotype resulted 46,XY. PCR amplification of the SRY gene confirmed the presence of the Y chromosome. Female genitalia without uterus in a subject with Y chromosome SRY gene, and no detectable testes indicate a condition of male pseudohermaphroditism associated with testicular regression. Low gonadotropin and sex steroid levels are suggestive of combined acquired hypothalamic-pituitary and gonadal impairment, due to iron deposition in both organs. We cannot exclude congenital failure of testosterone synthesis and action in this case, because lack of gonads is an unusual finding in thalassemic hypogonadic subjects.

Adolescent↗
PubMed1997

Longitudinal monitoring of bone mineral density in thalassemic patients. Genetic structure and osteoporosis.

The changes in bone mineral density (BMD) measured by single photon absorptiometry (SPA) using two observations conducted over a period of 2 years were examined in 54 thalassemic subjects [30 F(A) and 24 M(B)] with a chronological age ranging from 2.6 to 22.6 years and in 27 sex- and age-matched controls (C). Each category (A, B and C) was divided into three groups according to pubertal signs: pre-pubertal subjects (A1, B1 and C1); peri-pubertal subjects (A2, B2 and C2) and pubertal subjects from the first observation (A3, B3 and C3). Furthermore, each group of patients was divided into sub-groups on the basis of haematological phenotypes, those with a more severe form were called beta0/beta0 while those with other forms were called "others". The most significant findings were the following: the presence of a more severe reduction of the bone mineral density in patients with the beta0/beta0 phenotype than in patients with the "others" phenotype; patients with hypogonadism corresponded to the beta0/beta0 phenotype, while those with spontaneous puberty corresponded to the "others" phenotype. In conclusion, since puberty and the degree of bone mineral density are related to the haematological phenotype, puberty (spontaneous or induced) positively influences the bone mineral density only at the start of puberty, while subsequently, the degree of osteoporosis is the expression of widespread and chronic systemic damage due to the haematological phenotype.

Adolescent↗
PubMed1994

Lack of intrafamilial transmission of hepatitis C virus in family members of children with chronic hepatitis c infection.

Intrafamilial transmission of hepatitis C virus (HCV) was studied in family members of 44 children with chronic hepatitis C infection (index cases). There were 22 males and the mean age of all patients was 9.5 years (range, 1.5 to 16 years). Eleven index patients were multitransfused because of thalassemia major. Aminotransferase serum concentrations and anti-HCV antibodies were evaluated in 77 parents (38 fathers) and 56 siblings (28 males; mean age, 11.2 years; range, 2.5 to 18 years). No sibling showed evidence of liver disease or HCV infection. Eight parents (14%) were found to be anti-HCV positive, but only one of them acquired HCV infection from an index case through an accidental needle stick injury. A nonsexual person-to-person transmission of HCV was conceivable only in a girl (index case) who had no risk factor other than the contact with anti-HCV-positive father. Vertical transmission played a role in five children (index cases) (three males) from five different mothers. Among the eight children belonging to these mothers, three did not show evidence of HCV infection although born after their HCV-infected siblings. Furthermore, we have not identified factors related to activity of disease or to duration of contact with index cases or to peculiar features of family members capable of favoring the spreading of HCV infection. Different from hepatitis b, pediatric age does not seem to represent a reservoir for HCV infection since the majority of children acquired HCV infection through parenteral routes and no HCV-infected child transmitted HCV infection horizontally.

Adolescent↗
PubMedDate not supplied

Can adrenarche influence the degree of osteopenia in thalassemic children?

In order to evaluate whether changes of adrenal steroid serum levels occurring during the prepubertal period influence the degree of osteopenia, dehydroepiandrosterone sulfate (DHEAS) was longitudinally monitored as marker of the onset of adrenarche. Fifteen thalassemic patients, 9 girls (Group 1) and 6 boys (Group 2), with chronological age (CA) from 6.1 to 10.3 years and bone age (BA) from 6 to 9.6 years, were studied. Two observations, 14 months apart, were made. All patients had no pubertal signs according to Tanner during the period of observation, and auxological data (height, BMI and height velocity) were evaluated in respect to bone age. There was a statistically significant difference between the two groups for serum DHEAS, BGP serum levels, height velocity and bone mineral density expressed as standard deviation score (BMDsds) in respect to both bone age and height age (the latter was calculated in order to eliminate the influence of height on BMD). Alterations of bone metabolism were excluded by determination of calcium, phosphorus, alkaline phosphatase activity, parathormone, 25-OH-D3, IGF-I serum levels, all these values being normal. In conclusion, our data show that a delayed adrenarche occurs in thalassemic boys which is correlated with a severe degree of osteopenia, even though the relationship between them is not yet established.

Adrenal Cortex Hormones↗
PubMedDate not supplied

Bone age progression during five years of substitutive therapy for the induction of puberty in thalassemic girls--effects on height and sitting height.

UNLABELLED: It is known that in thalassemic patients there is a disproportion between lower and upper segments whose causes have not yet been identified. We evaluated whether the administration of estrogens to induce puberty in hypogonadic thalassemic girls caused an inappropriate acceleration of bone maturation and whether this had a negative influence on final and sitting height. MATERIALS AND METHODS: Twelve thalassemic patients with spontaneous puberty (Group A) and seven patients with hypogonadism (Group B) were studied. The mutations of the beta gene were identified by DNA analysis. We took into account four observations, ranging from the onset of spontaneous puberty in group A or the start of substitutive therapy in group B, to 5 years later. At each observation we considered: chronological age (CA), bone age (BA), height (Ht) expressed in cm and as standard deviation score (HtSDS) calculated with respect to CA (HtSDSCA) and BA (HtSDSBA), growth spurt, sitting height, expressed as SDS (SH-SDS), and height gain (HG). The delta BA and delta CA were calculated between the first and the final observation values to evaluate the bone age acceleration (delta BA/delta CA). RESULTS: No acceleration of BA was noted. delta BA/delta CA was 0.98 +/- 0.1 in group A and 0.89 +/- 0.1 in group B (p > 0.05). All patients in group B had the most severe form (beta degree/beta degree) of thalassemia. During the final observation, SH-SDS was -1.43 +/- 1.2 and -2.9 +/- 0.6 in group A and B respectively (p < 0.002), while no difference between the two groups for HtSDSCA and HtSDSBA was observed. HG was greater in group A than in group B (17.7 +/- 5.4 cm vs 10.8 +/- 5.2 cm) (p < 0.002), such as the spurt 8.6 +/- 1.4 cm (group A) and 6.1 +/- 2.6 cm (group B) (p < 0.05). CONCLUSIONS: Girls with hypogonadism did not show an inappropriate acceleration of BA, as they reached near final height similar to girls with spontaneous puberty. The auxological parameters showed a more severe body disproportion with the prevalence of the lower segment in the hypogonadic girls. This could be explained by a higher degree of bone marrow hyperplasia related to the most severe form of thalassemia and a higher blood consumption. As a consequence, damage at the vertebral level might determine an inability of the bone tissue to respond to estrogens. We suggest beginning estrogen therapy earlier in order to obtain better truncal growth.

Adolescent↗