Search

Sex cord tumor with annular tubules is an extremely uncommon gonadal stromal neoplasm. It represents 0.05-0.6% of all ovarian tumors, according to series. An unusual case is presented in a 6-year-old girl, detected as a result of an isosexual peripheral precocious puberty. The highlight of this case is that no mass attached to the ovary was found, but only a gonadal asymmetry without radiological signs of malignancy. After confirming the presence of tumoral cells by intraoperative biopsy, unilateral salpingo-oophorectomy with ipsilateral para-aortic and pelvic lymphadenectomy was performed. Afterwards, the evolution of the patient was favorable., (Sociedad Argentina de Pediatría.)

Objective: To analyse the effectiveness of growth hormone (GH) therapy in short-stature children born small for gestational age (SGA) without catch-up growth (height at the beginning of treatment<-2.5 SDS), in Valencia (Spain), between 01/01/2003 and 12/31/2013; and to compare our findings with previously published data., Materials and Methods: Anthropometric data from the SGA children were obtained from the database of the «Ministry of Health of Valencia». These data were retrospectively reviewed., Results: A total of 115 SGA children, with a mean age of 8.10±2.75 years and height of -3.14±0.59 SDS started treatment (dose: 0.035±0.004mg/kg/day) between January 1st, 2003 and March 31st, 2013. After 2 years of therapy (n=115, age: 10.50±2.72 years) the height SDS was -2.11±0.66; and after 4 years (n = 96, age: 12.65±2.46 years) of -1.76±0.75 SDS. This latest improvement in stature matches ages at which the growth spurt usually occurs. Only 35 out of 115 children reached adult height, although impaired (-2.22±0.86 SDS), and failed to achieve their target height (-1.72 ±0.75 SDS). However, this sub-group grew to near the height of the shorter parent (-1.95 ±1.28 SDS), and 42,9% of these 35 cases increased their stature by more than 1 SDS., Conclusions: The studied sample did not achieve satisfactory growth results, as in other published series. Our findings might be improved by starting treatment earlier, and with doses individualised according to patient characteristics., (Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Unlabelled: DKA at diagnosis of T1DM is a life-threatening situation that represents the main cause of morbidity and mortality in pediatric patients with T1DM., Objective: To determine whether the occurrence and severity of DKA at diagnosis of T1DM has suffered any changes in recent years in the Spanish paediatric population., Patients and Methods: Data from 1169 patients with T1DM under 15 years of age was retrospectively studied (2004 -2008) for the presence and severity of DKA at the onset of T1DM, and compared to previous available studies in Spain. This study is multicentric, nationwide with eleven major Paediatric Diabetes Units involved., Results: Complete data were available from 1151 patients (98%). Frequency of DKA was 39.5%, which is not significantly different from previous Spanish studies. 33.8%, children of 0-4.9 years of age, 40.8% aged 5-10.9 and 25.2% aged 11-14.9 years. Mean age of patients with DKA was significantly lower than the one of patients without DKA (7.44 +/- 4.10 versus 8.47 +/- 3.63 years). Mild DKA was occurring more frequently than moderate and severe forms (47.8%, versus 34.4% versus 17.8%, p<0.0001). Incidence of severe DKA was significantly higher in children under 4.9 years of age, especially in those younger than 2 years (p<0.001). Severe DKA led to complications in three children (cerebral oedema [n=1]), cerebral infarction (n=1) and femoral vein thrombosis (n=1)., Conclusion: Frequency of DKA at diagnosis of T1DM in Spain is still high although most cases were mild. Children under 2 years of age seem to be at increased risk for severe DKA.

Background: To estimate the agreement between observers on the detection of goitre by palpation in the school population because it is considered a variability test., Methods: For five months, during 2001/2002, the presence of goitre was studied in across-section sample of 845 school children (for 6 to 14 years old) from 18 school centres in a Health Area in Valentian Community. The exploration was always carried out by the same two observers. The thyroid size was established in 6 degrees. It was considered goitre since 0B inclusive. The agreement was assessed in relation to age, sex, IBM, and the exploration date. The Kappa Index was used as a measure of agreement., Results: The global prevalence of goitre was 40,4% according to the first observer and 36,8% to the second one. The agreement between observers was high, with a Kappa Index of 0.83 and it was similar in relation to sex, IBM, and the exploration date. It was smaller in the youngest children (six and seven years old) than in the oldest ones (from 12 to 14)., Conclusions: An excellent interobserver agreement in clinic assessment of goitre by palpation in a school children population was achieved. The least concordance was seen in youngest group. It would be advisable to include the study of agreement in the protocol of endemic goitre study.

Objective: To determine the usefulness of insulin glargine (IG) to reduce hipoglycaemias and hyperglycaemic events in children and adolescents with type 1 diabetes., Patients and Methods: In a retrospective/prospective study, 29 patients with a high number of non-severe hypoglycaemias, aged 3-18, and an average HbA1c of 8+/-0.7, received IG once daily plus regular insulin or rapid analogue before meals. Inclusion criteria were: a) previous treatment with NPH insulin; b) diagnosis of type 1 diabetes for at least 1 year before starting IG, and c) >3 blood glucose controls within a day. Incidence of severe and non-severe hypoglycaemic events, hyperglycaemic events, HbA1c values, body mass index, daily insulin dose before and after the institution of glargine therapy, were collected. Additionally, family were asked to complete a diabetes quality of life survey., Results: 1,294+/-411 glycaemias/subject were obtained. Hypoglycaemic episodes were not reduced (5.9% vs 6.2%) and hyperglycaemic events remained unchanged. Fasting blood glucose levels decreased from 195.3+/-36.6 to 162.8+/-25.8 in all patients (p<0.05) and a tendency a decrease in nocturnal hypoglycaemias was observed. The average HbA1c and total daily insulin doses also remained unchanged (0.8+/-0.2 UI/Kg/day)., Conclusions: Using IG achieves a glycaemic control similar to NPH, with a tendency to decrease the frequency of nocturnal hypoglycaemias and an improvement in fasting glycaemia values.

Introduction: Trisomy 9 is an uncommon chromosome abnormality that may be seen in a mosaic or non-mosaic state., Objective: To better define the phenotype and prognosis of this disorder we report a new case of mosaic trisomy 9 with a long-term survival., Clinical Report: We present the case of a female patient, born from the first pregnancy of a healthy couple. Fetal ultrasounds disclosed intrauterine growth retardation and oligohydramnios. Cesarean section was performed in the 34th week. Birth weight was 1,478 g. Neonatal examination showed: dolichocephaly; hypotelorism, microphthalmia, short palpebral fissures; broad-based nose with bulbous tip; micrognathia; low-set malformed ears; abnormal hands and feet; no other malformations. The initial karyotype determination was normal (46,XX). At 17 months of age, a second karyotype was requested because the patient developed severe psychomotor retardation. Chromosome analysis showed mosaic trisomy 9 (46,XX/47,XX, + 9). Six months later, a single upper central incisor was noted. To our knowledge, this feature has not been reported previously in the trisomy 9. The patient is now 4 years old. She shows severe psychomotor retardation, but no other complications., Comments: It is important to be aware of the possibility that mosaicism may exist in a patient with normal blood karyotype and abnormal phenotype. We conclude that a great number of cells is needed in order to obtain a correct karyotype diagnosis. Correct diagnosis is essential to define the prognosis and provide accurate genetic counselling.

Objective: To estimate the prevalence of goiter and iodine deficiency in a health district in the Autonomous Community of Valencia, given the absence of data in this region of Spain., Material and Methods: We conducted a descriptive, epidemiologic, cross-sectional study, stratified by age and sex, in four interior regions of the province of Valencia. We selected students aged from 6 to 14 years old in 20 centers. Thyroid examination was performed by means of palpation and inspection (goiter > or = 0B). Urinary iodine excretion was analyzed in a routine urine sample. Sociodemographic and anthropometric data, as well as nutritional iodine status, were recorded in a standardized survey. In children with goiter, thyroid-stimulating hormone (TSH), free T4, and antithyroid antibodies were determined., Results: We studied 928 children (478 boys and 450 girls). The prevalence of goiter was 33.7 % (95 % CI: 30.7-36.9 %). There were no significant differences in the prevalence of goiter by age or sex, but an inverse correlation was detected between the prevalence of goiter and parental socioeconomic position. Mean urinary iodine excretion was 155 .g/l, with no significant correlation with the prevalence of goiter. In children with goiter, 13 had positive antithyroid antibodies, 18 had high TSH (subclinical hypothyroidism), and one had suppressed TSH (subclinical hyperthyroidism)., Conclusions: There is endemic goiter in the region studied. Urinary iodine levels were in the normal range and could be interpreted as indicating a transition phase to an improvement in iodine deficiency. Autoimmune diseases would only explain 4 % of cases of goiter.

Introduction: Valproate use in young girls has been associated with the adverse endocrinological effects of weight gain and hyperandrogenism. Furthermore, polycystic ovaries and hyperinsulinism have been described in adult women. In men and young boys, however, the possible adverse endocrinological effects of valproate have scarcely been analyzed., Objectives: The aim of this study was to evaluate the effects of valproate treatment on pubertal development, especially the possible hyperandrogenic effects, in girls and boys with epilepsy., Material and Methods: Twenty-three girls and 15 boys (aged 8-16 years old) who were undergoing valproate treatment for epilepsy were compared with 15 control girls and 10 control boys of the same age range. Anthropometric indexes, sexual maturation, and hirsutism scores were evaluated. Serum concentrations of follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, androstenedione, dehydroepiandrosterone, estradiol, and insulin were measured. Ultrasound examination of ovaries and estimation of bone age through X-ray of the left hand were also performed., Results: Valproate did not affect pubertal development in the study group. No hirsutism or polycystic ovaries were found. Increases in weight, relative weight, and body mass index were observed in the group undergoing valproate treatment, but no statistically significant differences compared with the control group were found. Plasma testosterone was higher in valproate-treated girls (0.71 0.51 ng/ml) than in control girls (0.35 0.15) (p 0.001). This finding was independent of valproate dose and treatment duration. Hyperandrogenism was not found in valproate-treated boys., Conclusions: Valproate may induce hyperandrogenism in epileptic girls but not in boys. This is an early adverse effect and is independent of the dose used. No changes in normal pubertal development or physical repercussions were found in epileptic patients.

We have evaluated different aspects of the kidney function of 68 diabetic children and adolescents with the aim of estimating the prevalence of nephropathy and its influential factors. In addition, the kidney function is followed for an additional 18 months. The results are compared with those obtained from a group of healthy children of the same ages. No clinical nephropathy existed, with only 4 (5.97%) and 8 cases of incipient nephropathy and microalbuminuria, respectively, being demonstrated. The urinary albumin excretion rate (AER) is very clearly connected with the duration and the metabolic control of diabetes. Elevated values for AER were also observed in poorly controlled diabetics and those with prolonged evolution. Nevertheless, the last point may be secondary to the development of puberty, since with the same duration of diabetes (under 5 years), the proportion of pubertal patients with microalbuminuria is higher than that for prepubertal children.

In order to evaluate risk factors and clinical manifestations of theophylline intoxication in the infant, a comparative study between intoxicated and non intoxicated during a period of 4 years has been made. The incidence of this complication was 9.5% (7/74). Except for the cases of 2 children where there was an administrative error, everyone received a similar dose, finding great variability in the reaction to the drug. Only age seems to contribute to an increased tendency to intoxication (6/7 less than or equal to 3 months). Concerning the clinical manifestations, we do not find any correlation between the theophylline levels and severity. All the infants presented tachicardia and irritability, 3/4 tonic-clonic seizures and/or episodes and 1/7 severe metabolic disturbances. Only 1/7 had prodromic symptoms, therefore in view of the variability in individual tolerance, we believe that theophylline should not be used for small without an appropriate control of its serum concentrations.

A population of 29 diabetic school children has been studied with the purpose of evaluating the repercussion the disease has on the psychosocial development of the child. Eysenck's inventory of personality, Achembach's IPCDS and the drawing of the human figure have been employed as psychological test. The sociological aspects are valued through interviewing and questionnaires. The outstanding conclusions are: 1. Diabetes does not condition the development of a specific personality. 2. Psychiatric alterations and pathological behaviours are not present in the diabetic school child with a greater frequency than in the normal child. The most problematic is the pattern of behaviour found in preadolescent teenagers, individual cases stand out in relation to their antisocial and reserved behaviour. 3. The disease neither cuts down social life, nor does it condition the appearance of school-failure, but it does have a repercussion and a modifying effect on practical aspects of family life and the relations among its members.

The presence of limited movement articular (LMA) was examined in 58 insulin-dependent diabetic children 38 boys and 20 girls in a range of 1 to 18 years. The children were ill during a mean of 4 years and 7 months +/- 3 years and nine months. The MAL was present in 36.2% of diabetic children versus 2.08% in the control group (96 healthy children). The presence of MAL has a statistically significant correlation with: age (9 years or more) (p less than 0.01); poor metabolic control (specially in severe forms) (p less than 0.001) and retinopathy (p less than 0.02). The examination of LMA is very useful for the early diagnosis of retinopathy in high risk patients because of the very frequent association of both complications of diabetes.