Congenital hypothyroidism: auxological retrospective study during the first six years of age.

We examined length, height and weight from birth to six years of age and head circumference during the first two years in 89 children with congenital hypothyroidism (CH). The patients were divided in two groups: children diagnosed by clinical criteria during the first year of life (group A) and children detected by neonatal screening (group B). Group A showed a complete catch up growth for height and weight 10 months after the beginning of the replacement therapy; to the contrary, group B did not show any difference for height and weight compared to normal standards.

Neurophysiologic studies and cognitive function in congenital hypothyroid children.

Minor neurologic and intellectual impairments have been described in some congenital hypothyroid (CH) children in spite of early detection by neonatal screening. The aim of our study was to assess cognitive functions as well as neurophysiologic parameters in hypothyroid children and to compare children detected by neonatal screening (group A) versus hypothyroid patients clinically diagnosed before the beginning of the screening program (group B). Group A consisted of 15 children (13 girls, mean age at the beginning of treatment 33 d).

[Thrombocytosis and neonatal subcutaneous adiponecrosis].

The authors report three newborns with subcutaneous fat necrosis, that appeared between the 4th and 21st day of life. The infants, full term of normal weight, presented severe perinatal hypoxia and needed primary resuscitation. Severity and duration of perinatal hypoxia were not related with the time of cutaneous lesion onset.

Encephalocraniocutaneous lipomatosis: case report and review of the literature.

Encephalocraniocutaneous lipomatosis is a congenital disorder characterized by unilateral cerebral malformations and ipsilateral scalp, face, and eye lesions. Distinguishing histopathologic features are dysgenesis and neoplasia of the adipose tissue. A Caucasian boy had soft tumors and elastic papules on his head since birth, associated with atrophic areas, and a bilobed lesion on the upper right eyelid.

[Changes in dynamic respiratory volumes in obese children and adolescents related to weight loss and sex].

Obesity is associated with various alterations in lung function in adults. These alterations appear to be proportional to the degree of EP and the beneficial effect of weight loss on respiratory function has been reported. Therefore, in 35 children and adolescents affected by essential obesity of medium-severe degree, we have evaluated the following parameters: FVC (forced vital capacity), PEF (peak expiratory flow), FEV1 (forced expiratory volume), FEV75, FEV50, FEV25, before and after six months of dieting.

Congenital hypothyroidism and pericardial effusion.

A group of infants, affected by congenital hypothyroidism diagnosed through the neonatal screening program, was investigated with echocardiography to detect the presence of pericardial effusion. We studied the relationship between the effusion and the etiology of hypothyroidism, established through thyroid scintiscanning. Our data show a high prevalence of effusion in hypothyroid patients, without other clinical signs of cardiac involvement as well as a relationship between the etiology of hypothyroidism and the presence of effusion.

[Screening for obesity in a schoolchildren population of the 20th zone of Milan and a nutritional education intervention].

Our study was performed in 1986-'87 and 1987-'88 school years on 12.354 three to eighteen years old students (the whole scholastic population of zone 20 of Milan) in order to apply dietary education on obese subjects. Mean prevalence of obesity was 13.

Free thyroid hormones in evaluating persistently elevated thyrotropin levels in children with congenital hypothyroidism on replacement therapy.

Some children with congenital hypothyroidism receiving L-T4 therapy have elevated serum TSH levels despite having normal serum T4 concentrations, suggesting that they have a higher threshold for the feedback regulation of TSH release. To further study this possibility, we determined serum free T4 (FT4) and T3 (FT3) concentrations in two groups of L-T4-treated hypothyroid children. Group A consisted of 10 patients with high serum TSH levels; group B consisted of 10 patients with normal TSH levels.

[Hormonal therapy of congenital hypothyroidism in childhood].

L-tiroxine (L-T4) substitutive therapy has been evaluated in a group of 15 hypothyroid children (6 males and 9 females), one to six years old. We have found a wide dosage range, being not possible to find any significant difference between ranges leading to normal and ranges leading to pathological findings, thus making impossible to suggest a reasonably safe dosage pro kg. of body weight.

[Follow-up and prognosis of congenital hypothyroidism].

Neonatal screening of congenital hypothyroidism has been recently extended to the most of North America, Australia, Europe, and to several Italian areas. Before screening programs, several Authors reported neurological defects and behavioral disturbances also in patients whose treatment has been precocious, thus stressing the importance of an antenatal thyroidal defect. We have therefore setted up a follow-up program to evaluate the prevalence and to treat such disturbances in hypothyroid children.

Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia.

Hormonal studies and human leukocyte antigen (HLA) genotyping were performed in 5 males and 13 females who were demonstrated to have 21-hydroxylase deficiency. The enzymatic deficiency of steroidogenesis was detected by family studies of 10 females who presented with varying symptoms of androgen excess. The 10 index cases had normal genitalia at birth, but virilized to varying degrees postnatally.

Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.

Cryptic 21-hydroxylase deficiency has been previously described in asymptomatic family members of patients with classical congenital adrenal hyperplasia (CAH). These family members were detected by high baseline 17-hydroxyprogesterone levels found in the course of family studies. The hormonal responses to ACTH of the family members with cryptic 21-hydroxylase deficiency were determined and compared to the responses of patients with CAH, patients with acquired adrenal hyperplasia, family members predicted to be heterozygous for CAH, family members predicted to be unaffected, and the general population.

HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency.

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) has been established to be an HLA-linked, recessive monogenetic disease. However, two nonclassical forms of 21-OH-def have also been described: "cryptic" 21-OH-def, which has been shown to be HLA-linked, and "late onset" 21-OH-def, for which the status of linkage to HLA has been less certain. We now describe studies of eight additional unrelated probands with symptomatic, "late onset" 21-OH-def, and conclude that this form is also HLA-linked.

HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency.

HLA genotype and HLA-linked marker data for 40 unrelated patients from central Italy and 2 unrelated patients from Sardinia with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) were analyzed. The results confirm that the HLA-linked 21-OH-def gene is associated with several different HLA determinants and complete HLA haplotypes, although the only determinant with significantly increased frequency was the complement C2 allele C2B. The HLA antigens B8 and DR3 were found in significantly decreased frequencies.

Pancreatic endocrine function in leukemic children treated with L-asparaginase.

The effect of arginine infusion on blood glucose and plasma levels of insulin, C-peptide and glucagon has been studied in leukemic children before and after treatment with L-asparaginase (10,000 U/m2/day for 10 days). Therapy induced a significant reduction in basal and peak blood glucose, insulin and C-peptide levels, while glucagon was unmodified. The conserved C-peptide-insulin molar ratio suggests the interference of L-asparaginase with proinsulin synthesis.

Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.

Serum androgens and 17-hydroxyprogesterone concentrations and HLA genotypes were determined in 124 families of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH). In 8 pedigrees, we discovered 16 pubertal or postpubertal family members of either sex who had biochemical evidence of 21-hydroxylase deficiency but were without clinical symptoms of excess virilism, amenorrhea, or infertility. We designated these family members as individuals with cryptic 21-hydroxylase deficiency.