Diabetes mellitus in childhood: an emerging condition in the 21st century.

The International Diabetes Federation (IDF-2015) estimates the existence of 30,900 children under 15 years old with type 1 diabetes mellitus (DM1) in Brazil, and an increase of 3.0% per year is expected. This review focused on meta-analysis and pediatric diabetes update articles in order to draw attention to the need of planning coping strategies to support this serious public health problem in coming years.

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

Background: Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations.

Objective: To review causal mutations and genotype-phenotype correlation in 480 Brazilian patients.

Methods: DNA was extracted from 158 salt-wasters (SWs), 116 simple virilizing (SV), and 206 nonclassical (NC) patients.

Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up.

Background: McCune-Albright syndrome (MAS) is a genetic disorder characterized by the triad of fibrous dysplasia, skin hyperpigmentation, and autonomous hyperfunction of various endocrine organs. MAS frequently presents in females as precocious puberty (PP). Although many treatments have been proposed, the preservation of final height (FH) in these patients remains a challenge.

A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency.

Evaluation of adrenal reserve in children with acute lymphocytic leukemia treated with prednisone or dexamethasone.

Background/aims: The purpose of this study was to compare adrenal gland reserve in acute lymphocytic leukemia (ALL) patients 8 weeks after treatment with either prednisone (PRED) or dexamethasone (DEX) during the induction phase of therapy.

Methods: A double-blind comparative study of patients treated with PRED and DEX was performed. Sixteen patients received PRED (40 mg/m(2)/day) and 13 patients received DEX (6 mg/m(2)/day), both for 28 days.

Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities.

MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight gain, and absence of typical signs and symptoms of hypothyroidism, while the laboratory evaluation disclosed elevated T3, low total and free T4, and mildly elevated TSH serum levels.

[Evaluation of the main late endocrine effects in children and adolescents after treatment of malignancies].

Objective: To report the main endocrine effects after cancer treatment in children and adolescents and associate them to the disease and its treatment.

Subjects And Methods: Clinical and lab evaluation for endocrinopathy was performed in 320 patients after cancer therapy have been followed for six years.

Results: The most prevalent endocrine late effects in patients were: 32 patients had short stature, nine of them were under growth hormone therapy.

[Search of prostatic tissue in 46,XX congenital adrenal hyperplasia].

Objectives: To describe the presence of prostatic tissue in 46,XX patients with the classical form of congenital adrenal hyperplasia (CAH); to evaluate the sensitivity and specificity of prostatic specific antigen (PSA) measured in congenital adrenal hyperplasia patients with regard to the detection of prostatic tissue in pelvic MRI.

Methods: We studied 52 children and adolescents, 32 with the classical form of congenital adrenal hyperplasia, 10 boys and 10 girls without CAH. Pelvic MRI was performed in all patients to detect prostatic tissue.

Home blood glucose monitoring in type 1 diabetes mellitus.

Objective: To determine which of two simplified blood glucose monitoring schemes promotes better metabolic control in type 1 diabetic patients during 12 months of participation in educational groups.

Methods: A crossover clinical trial involving 21 patients divided into two groups was conducted. They were submitted to a two monitoring schemes: 2 alternate daily preprandial measurements and 2 alternate daily pre-and postprandial measurements.

[Hypoglycemia in type 1 diabetic patients].

The study analyzed the occurrence of hypoglycemia and metabolic control of two monitoring schemes in type-1 diabetic patients during 12 months they participated in education groups. Clinical crossed trials were conducted with 21 patients divided into two groups included the monitoring scheme proposed. Glycemic individuals' profiles directed monthly adjustments of insulin doses.

[Prader-Willi syndrome: metabolic aspects related to growth hormone treatment].

Aim: The focus of this study was to evaluate the metabolic profile of Prader-Willi Syndrome (PWS) patients treated with growth hormone.

Patients And Methods: Seven patients (four boys and three girls) with ages between six years and six months and 14 years and 11 months were treated with GH 0.1 U/kg/day subcutaneous by six times a week, for two years.

Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency.

Introduction: 21-Hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia, followed in frequency by 11beta-hydroxylase deficiency (11betaOHD). Although the relative frequency of 11betaOHD is reported as between 3 and 5% of the cases, these numbers may have been somewhat underestimated.

Materials And Methods: In 133 patients (89 females/44 males; 10 d-20.

Subcutaneous use of a fast-acting insulin analog: an alternative treatment for pediatric patients with diabetic ketoacidosis.

Objective: To look for technical simplification and economic efficiency in the treatment of pediatric diabetic ketoacidosis (DKA) with subcutaneous use of the fast-acting insulin analog (lispro) and compare its use with regular intravenous insulin treatment.

Research Design And Methods: In this controlled clinical trial from June 2001 to June 2003, we randomized 60 episodes of DKA with a blood glucose level > or = 16.6 mmol/l (300 mg/dl), venous pH <7.

Adrenocortical carcinoma: prognostic indices based on clinical and immunohistochemical markers.

Adrenocortical carcinoma is a rare condition with an unpredictable prognosis as a rule. The authors retrospectively analyzed the clinical outcome of 46 patients (31 F, 15 M) during 16 years building up a numerical index for the prognosis, based on clinical and immunohistochemical data. Four indices were analyzed: J1= (Y + 2L + 4H)/T; J2 = (J1) square root of W/200; J3 = (O + Y + 2L + 4H)/T; J4 = (J3) square root W/200.

[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation].

We analyzed the clinical and molecular data of 205 patients with the three different clinical forms of 21-hydroxylase deficiency, in whom the clinical and molecular diagnosis were already defined. The most frequent mutations were I2 splice in the salt wasting form, I172N in the simple virilizing and V281L in the nonclassical form, presenting similar frequencies as those observed in other populations. We found a lower frequency of 21-hydroxylase gene deletion, similar to that previously identified in Argentinean and Mexican populations.

Growth and puberty after treatment for acute lymphoblastic leukemia.

Unlabelled: Over the last 20 years, after combining treatment of chemotherapy and radiotherapy, there has been an improvement in the survival rate of acute lymphoblastic leukemia patients, with a current cure rate of around 70%. Children with the disease have been enrolled into international treatment protocols designed to improve survival and minimize the serious irreversible late effects. Our oncology unit uses the international protocol: GBTLI LLA-85 and 90, with the drugs methotrexate, cytosine, arabinoside, dexamethasone, and radiotherapy.

[Thyroid carcinoma in children and adolescents - review of six cases].

OBJECTIVE: Childhood thyroid carcinoma is a rare entity whose management is controversial. The objective of the present study was to evaluate the characteristics of these patients in terms of diagnosis and evolution. PATIENT AND METHODS: The evolution of six patients with thyroid cancer, followed at a Pediatric Endocrinology Unit during the past 17 years, was retrospectively reviewed.

Precocious puberty: an endocrine manifestation in congenital toxoplasmosis.

We reviewed retrospectively seven children with congenital toxoplasmosis and precocious puberty. All seven showed very high levels of LH (25.2-155.

Premature thelarche: identification of clinical and laboratory data for the diagnosis of precocious puberty.

Purpose: Two groups of girls with premature breast development were studied retrospectively. We tried to identify clinical, radiological, and hormonal parameters that could distinguish between a benign, nonprogressive premature thelarche and a true precocious puberty.

Methods: The clinical outcome of 88 girls with breast enlargement before 6.

Evaluation of the hypothalamic-pituitary-adrenal axis in children with leukemia before and after 6 weeks of high-dose glucocorticoid therapy.

Among the adverse effects arising from chronic high-dose glucocorticoid treatment, adrenal insufficiency secondary to suppression of the hypothalamic-pituitary-adrenal (HPA) axis is a cause for concern. Glucocorticoid-induced adrenal suppression is related to the duration of therapy, type of steroid used and dosage, and schedule of glucocorticoid administration. To evaluate the suppression and recovery time of the HPA axis in children with acute leukemia, we performed the ovine CRH (oCRH) stimulation test in 15 patients, who were given high doses of dexamethasone as part of their induction chemotherapy for 42 days.