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Objective: To study the relationship between certain aspects of puberal development in a group of women with primary congenital hypothyroidism diagnosed before the introduction of neonatal screening programs and in a control group of healthy women., Patients and Measurements: Longitudinal retrospective study of 15 women with primary congenital hypothyroidism and 26 healthy women. Height, chronological and bone age, and growth velocity are expressed in centimeters and centimeters per year, respectively. Bone age was analyzed by the Greulich and Pyle atlas. Bone and chronological age are expressed in decimal year. Statistical data were expressed as the means and as the maximum and minimum standard deviations. The Student-Fisher t-test was used to compare the two groups., Results: 1. Evolution of mean height measurements in the hypothyroid and control group respectively were as follows: 154.565.11 and 156.465.28 for genetic height; 140.065.21 and 138.965.95 in tanner's B2, and 153.763.32 and 155.065.93 at menarche. Final height was 157.863.71 and 158.965.95. The difference between final and genetic height was 3.2564.17 and 2.1664.18. The increase in height after menarche was 4.1261.61 and 3.9261.81. The total increase in height during puberty was 17.7464.32 and 20.4665.30. The percentage of height reached during puberty compared with final height was 11.2462.70 and 12.8263.18. 2. Evolution of mean chronological age was respectively: 11.5761.01 and 10.7561.36 in tanner's B2 P=0.05); 13.48+/-0.88 and 13.18+/-1.12 at menarche, and 16.25+/-1.33 and 14.91+/-1.12 at reaching final height (p=0.01). Time between Tanner's B2and B3, B3and B4and B2and B4were 0.61+/-0.23and 0.98+/-0.60 (p=0.01), 0.71+/-0.33and 0.70+/-0.33, 1.32+/-0.51 and1.65+/-0.70. Time between B2and menarche was 1.92+/-0.55 and 2.46+/-1.05(p=0.05) and between menarche and final height was 2.89+/-1.04 and 1.70+/-0.63 (p=0.001). 3. Evolution of mean bone age measurements was respectively: 10.57+/-1.51 and 10.67+/-1.26 in Tanner's B2, and 13.600.97 and 13.27+/-0.65 at menarche. Development of bone age between Tanner's B2 and B3, B3 and B4 and B2and B4was 1.02,0.60 and 0.91,0.65, 1.12,0.76and 0.96+/-0.59, and 2.13+/-1.29 and 1.74+/-1.04, respectively, and between B2 and menarche it was 3.17+/-1.25 and 2.66+/-1.38.4. Mean growth velocity in real time elapsed between different intervals and in centimeters per year was as follows: between B2 and B3:.05+/-2.09, 5.75+/-2.80 and 8.40+/-1.80, 6.24+/-1.74(p=0.01); between B3 and B4: 4.74+/-1.54, 4.97+/-2.82 and 7.31+/-2.14, 7.14+/-1.68; between B2 and B4: 7.40+/-3.70,0.90+/-4.13 and 7.40+/-2.18, 6.75+/-1.34 and between B2and menarche: 13.62+/-4.41, 15.96+/-5.42and 7.20+/-1.57, 6.90+/-1.27 respectively., Conclusions: In women with hyperthyroidism puberty was normal, except that onset was delayed, development was faster and the postmenarche growth period was longer than in the control group. Bone maturation and growth velocity were similar in both groups, and both of them reached a normal final height compared with their target height.

Objective: To determine bone mineral density (BMD) at axial and appendicular sites in patients with type 1 diabetes mellitus and evaluate its relationship with metabolic control and disease duration., Patients and Methods: BMD was measured by dual-energy X-ray absorptiometry (Hologic QDR-1000) in the lumbar spine (L1-L4) and at the distal third forearm in 246 healthy non-diabetic children and adolescents (111 boys, 135 girls, aged 2.8-20.8 years) and in 45 diabetic patients (18 boys, 27 girls, aged 5.2-19.4 years). The results were expressed as the mean and standard deviation. The differences were tested by analysis of variance or Students t-test, as appropriate. The relationship between BMD and the remaining variables was studied by simple Pearsons coefficient and partial correlation coefficient. Significance was defined as p < 0.05., Results: BMD Increased progressively from infancy to adulthood In both populations. Lumbar spine and forearm BMD were significantly lower in diabetic patients than in the healthy non-diabetic children, mainly during pubertal spurt. The greatest differences were found in males and in the trabecular bone. No relationship was found between metabolic control (mean glycosylated hemoglobin, insulin requirement) and duration of diabetes and the BMD in any region studied (p > 0.05)., Conclusions: Pediatric patients with type 1 diabetes mellitus appear to constitute a population at risk of osteoporosis in adult-hood. Diagnosis of osteopenia diagnosis should be established according to densitometric criteria. In this study, metabolic control parameters and duration of diabetes did not enable predetermination of diabetic patients at risk of osteoporosis in adulthood.

Objective: In order to establish the normal patterns of forearm bone mineral density (BMD), BMD in the cortical and trabecular parts of the distal forearm were studied in a normal pediatric population., Patients and Methods: BMD was measured by dual-energy X-ray absorptiometry (HOLOGIC QDR-1000) in the distal third forearm of 246 normal children and adolescents (111 boys and 135 girls) ranging from 2.8 to 20.8 years of age. BMD was correlated by multiple regression analysis with age, weight, body mass index (BMI), sex and pubertal Tanner stage., Results: Forearm BMD increased progressively with age, weight, height, BMI and maturity, with the maximal increase in all forearm bone sites occurring at the onset of puberty in girls and boys. A statistically significant correlation was found between forearm BMD and all of these variables (r = 0.65 to 0.92). Mean BMD was higher in boys than in girls in cortical, trabecular and cortical-trabecular sites of the distal forearm. Maximal differences in BMD between boys and girls occurred at 17-18 years of age, especially the trabecular-dominated (ultradistal) part of the distal forearm (0.446 vs 0.384 g/cm2)., Conclusions: Forearm BMD studies permit information of both cortical and trabecular bone mineralization to be obtained at the same time. This study reports normative data for forearm BMD in a healthy pediatric population. The values obtained may be used as a reference of normality when evaluating bone density in situations where skeletal mineralization may be compromised.

Objective: We comment on the most important advances related to the phenomenon of genomic 'imprinting' in clinical paediatric neurology., Development: Initially, we review the biological findings related to this subject and establish various concepts. Later, we attempt to clarify the different mechanisms of expression of the phenomenon 'imprinting' and its application in clinical practice. We give a detailed review of the various neurological disorders in which this genetic phenomenon has been involved to date. Finally, we attempt to determine when this genetic alteration should be suspected and which molecular biology techniques should be used to confirm the diagnosis., Conclusions: 1. Clinical diagnosis suspecting that the presence of genomic 'imprinting' may be the mechanism causing a particular pathology should be based on a family tree showing that both sexes and all generations are affected and that the severity of the same disease varies among different members of the same family; 2. Study strategy includes studying the methylation pattern of the DNA. If there are changes in this, PCR should be done to show the exact pattern of the alteration.

Objective: Our objective was to study children with familial short stature (FSS) to observe whether they develop bone mineralization similar to that seen in healthy children with an adequate height for their age and sex., Patients and Methods: The study included 70 FSS patients (39 boys and 31 girls) between 6 and 20 years of age and 246 control patients with the same mean age and sex of the study group. Bone mineral density was measured in the lumbar spine and forearm by performing dual energy X-ray absorptiometry using a Hologic ADR-1000., Results: The main difference between the FSS population and the control group was in the final adult bone mass, which was 20% less in the lumbar spine and 15% less in the forearm in the FSS group., Conclusions: A large difference in bone mineralization was observed among the FSS population compared to the control group during infancy and adolescence and this becomes accentuated with age or growth resulting in bone mineralization that is not optimum for facing the losses which occur during adulthood.

Objective: The objective of this study was to determine how accurately three methods of height prediction estimate adult height in a group of 27 boys and 16 girls with untreated short stature who have reached adult height. Twenty of the patients were considered to have familial short stature, 8 constitutional delay of growth and puberty, 12 a combination of both conditions and 3 idiopathic short stature., Patients and Methods: Height predictions at various chronological ages were retrospectively compared to final adult height according to the Tanner-Whitehouse Mark I, Bayley-Pinneau and Roche-Wainer-Thisen methods. Heights were expressed as centimeters and standard deviation scores (SDS) and related to Tanner standardized curves., Results: The final heights reached were significantly below the target height [-2.0 (0.5) SDS versus -1.6 (0.6), p < 0.01]. The three methods over-estimated adult height. The Bayley-Pinneau method was especially accurate in girls and in familial short stature. The Tanner and Bayley-Pinneau predictions were similar in constitutional delay of growth and puberty. The Roche method gave the greatest errors in all groups., Conclusions: 1) Thee groups of normal variant short stature patients reached an adult height in the lower normal range. 2) The three method of height prediction over-estimated final height. 3) As in some pathological conditions, the Bayley-Pinneau was the most reliable method of height prediction in children with short stature. 4) These children may be considered as a historical group to evaluate the effect of growth-promoting therapies.

Objective: The objective of this study was to determine how accurately three methods of height prediction (the Bayley-Pinneau, Tanner-Whitehouse Mark 1 and Roche-Wainer-Thissen methods) estimate adult height in a group of 17 girls and 7 boys treated for congenital primary hypothyroidism., Patients and Methods: The patients were diagnosed at a mean chronological age of 1.2 years. Their thyroxine treatment dose ranged between 3.1 and 8.6 micrograms/kg/day. Height predictions at various chronological ages were retrospectively compared to final adult height. The first prediction was made at a chronological age of 7.3(1.1) years, corresponding to the sixth year of treatment. Heights were expressed in centimeters and standard deviation scores (SDS) and related to Tanner standardized curves., Results: The final heights reached were significantly higher than the target heights (-0.5 (0.7) SDS vs -1.1 (0.9) SDS, p < 0.01). The three methods accurately estimated adult height. Tanner and Bayley-Pinneau height predictions were similar. The Roche method over-predicted height at all chronological ages with a mean error which ranged between +2 (3.2) centimeters and +2.8 (2.1) centimeters., Conclusions: 1) The patients who were diagnosed and treated early for congenital primary hypothyroidism reach an adult height in the normal range, which is probably related to the total recovery of their retarded bone age. 2) In this pathological condition, the Bayley-Pinneau and Tanner-Whitehouse Mark 1 are the most reliable methods of height prediction.

Unlabelled: In this study we have assessed the frequency of karyotypes, phenotypes and some associated diseases 23 girls affected with turner's syndrome. Moreover, we have analyzed their relationships., Results: The most important findings the following: 1) The mean age at diagnosis was 7.37 +/- 5.65 (0, 16) years. 2) The most frequent karyotype was monosomy 45XO, which was found in fourteen patients (60.9%), followed by isochromosome of the long arm of chromosome 46 XiXq in five cases (21.7%), two mosaics, one 45 XO/46 XiXq and one 45XO/46XX, and two deletions of the short arm of chromosome X (46 XX Xp-). 3) The classical phenotype was found in 87% of the cases. 4) Bone malformations were found in nine patients (39.1%). The most frequent were, short metacarpals in five cases, knee anomalies (Kosowicz's sign) in four, one Madelung deformity and one alata scapula. 5) Renal malformations were detected in five patients (21.8%), two rotational abnormalities, two horseshoe kidneys and one double collecting system. 6) Cardiovascular malformations were found in four cases (17.3%). Three bicuspid aortic valves and one aortic coarctation were diagnosed. 7) Otitis media was discovered in seven girls (30.5%). 8) Other processes found were, congenital lymphedema in four cases, one Klipell-Trenaunay syndrome, one Dandy-Walker anomaly, one congenital glaucoma, one colesteatoma, one congenital torticolis, one hit luxation and one essential arterial hypertension. A significant correlation was found between karyotype and phenotype, such that all of the patients with monosomies and with mosaics, 66% of those with X isochromosomes and one of the patients with a deletion had a classical phenotype. We found no correlation between the karyotype and the different malformations and associated diseases.

A retrospective study analyzing etiological, clinical and hormonal aspects in a population of 45 patients (14 males and 31 females) with permanent hypogonadism was performed, the most important findings were: 1) The most common cause of hypogonadism was gonadal failure (60% of all patients). This included-twenty-three females and four males. Eighteen patients had XO, two XY and two more XX gonadal dysgenesis. In the remaining cases, three patients had bilateral agonadism and two had testicular atrophy secondary to radiochemotherapy. 2) Eighteen patients had hypogonadotropic hypogonadism (40% of the cases). Ten were males and eight females. Eleven patients had gonadotropin deficiency associated with other pituitary dysfunctions. Deficiency of GH was found in all cases. TSH in ten, ACTH in nine and ADH in five. An increase in prolactin was observed in seven patients. The etiology of the hypopituitarism was intracranial tumors in five cases, idiopathic in three, perinatal hypoxemia in two and hypoplastic pituitary in one. In the remaining seven cases, isolated gonadotropin deficiency was found. Four cases were idiopathic, two cases had demyelinating diseases and one beta-thalassaemia. 3) Mean levels of testosterone were 4.20 +/- 6.5 (0, 20) pg/ml. Meal levels of estradiol of the total group, gonadal failure patients and those with hypogonadotropic hypogonadism were 8.51 +/- 14.7 (0, 50), 9 +/- 16 (0, 50) and 7.12 +/- 10.98 (0, 29) pg/ml, respectively. 4) Mean basal levels of LH and FSH in patients with gonadal failure were 35.57 +/- 60.66 (5, 320) and 53.19 +/- 53.92 (4, 230) mUi/ml, respectively. In hypogonadotropic hypogonadism patients, mean basal and peak levels of LH were 0.98 +/- 1.24 (0, 5) and 3.45 +/- 3.94 (0, 12) mUi/ml, respectively. Mean basal and peak levels of FSH after LHRH stimulation were 1.43 +/- 1.88 (0, 6) and 3.85 +/- 4.85 (0, 17) mUi/ml, respectively.

Diarrheic processes from an infectious origin constitute a frequent pathology during childhood. We have analyzed, from a epidemiological point of view, a series of 117 children diagnosed as having diarrhea and having stool cultures bacteriologically positive for Salmonella. Special reference has been made to the epidemiological chain of this infection. Of the patients studied, 68 (58.2%) were boys and 49 (41.8%) were girls. Their ages ranged between 1 month and 14 years. An epidemiological environment was recognized in 34.1% of the cases. The most frequent serotype was Salmonella Enteritidis (72.6%).

Infectious diarrhoea are common causes of morbility in children. Although viral agents are responsible for the majority of cases of acute diarrhoea during infancy, bacterial infections are also well recognized as causes of them. 256 patients with diarrhoea due to a bacterial pathogen were studied to determine the importance of different epidemiologic factors. The study group comprised 151 boys (59%) and 105 girls (41%) aged between first month and 14 years. Family history of acute diarrhoea was found in 15% of children. 63,7% of them were hospitalized by the severity of clinical features. 32% of cases were detected in summer. Salmonella entérica was isolated in 45% of stool samples and Campylobacter spp in 33,2%. Clinical evolution of diarrhoea differentiated the patients into three groups: acute diarrhoea (95,7%), prolonged diarrhoea (3,1%) and chronic diarrhoea (1,1%).

Atherosclerosis and its consequences are a significant cause of death in industrialized countries. In recent years, due to modern techniques which permit DNA analysis, a series of alleles associated with dyslipoproteinemia and heart disease have been identified. In this study these genetic markers, in particular those found at the level of the genes of apolipoproteins, are reviewed. The knowledge of these facts is important for the paediatrician, since these disturbances can be identified in the first days of an individual's life, thus a positive influence can be made over the lifestyle habits.

Congenital adrenal hyperplasia caused by a deficiency of 21-hydroxylase is an inherited disorder of adrenal steroidogenesis. In this study, the deficiency incidence is presented according to different author's and countries' results. Nowadays knowledge concerning its genetics are reviewed, especially HLA linkage. Allelic variants of deficiency and the "linkage disequilibrium" with HLA complete antigens are described. Finally, the main applications of that knowledge are presented: heterozygote detection and prenatal diagnosis.