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.

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.

[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].

Objective: To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP.

Subjects And Methods: Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed.

[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.

[Cystic fibrosis-related diabetes: a frequent co-morbidity].

Cystic fibrosis-related diabetes (CFRD) is a major co-morbidity generally affecting patients over 15 years old and it is associated with increased morbidity and mortality. The pathophysiology includes exocrine tissue destruction, insulin deficiency and insulin resistance; the carbohydrate metabolism dysfunction begins with an altered kinetic in insulin secretion followed by a progressive insulin deficiency. Postprandial hyperglycemia is the first abnormality seen in CF patients and the classical symptoms of diabetes may not be recognized.

Hypothyroidism in children: diagnosis and treatment.

Objective: To present relevant and updated information on the status of hypothyroidism in the pediatric population (newborn infants to adolescents).

Sources: Original and review articles and books containing relevant updated data.

Summary Of The Findings: This review addressed data on the etiopathogeny of hypothyroidism and on the importance of screening for congenital hypothyroidism to assure early diagnosis and treatment of the newborn.

[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.

[XX male: 3 case reports during childhood].

We report on three patients with the clinical condition known as "XX male", which is uncommon in the pediatric age group. Patients have a male phenotype (usually without ambiguous genitalia) and testes; however, the karyotype is 46,XX. The diagnosis is usually made in adult life due to infertility; it may also be done by the pediatrician when there is ambiguous genitalia or gynecomastia.

[True hermaphroditism: experience with 36 patients].

Aim: To show data on true hermaphrodites (TH) followed in two reference centers in the state of São Paulo.

Patients: Twenty-six TH patients have been followed from 1975 to 2004 in the Pediatric Endocrinology Unit, São Paulo University Medical School, and the other 10 patients from 1989 to 2004 in the GIEDDS-UNICAMP.

Methods: Clinical and pathological data were retrospectively analyzed, as well as the decision about the sex of rearing.

[Brain sex: just beginning to pave the way].

It has become clear that a sexual brain dimorphism exists between males and females and animal studies have shown specific circuits developing depending on the sex. Since the first studies by Gorski, in rats, characterizing a sexually dimorphic nucleus in the pre optic area (SDN-POA) it has been accepted that the male sex imprint is done by estradiol, locally converted from testosterone through the action of a local aromatase. The presence of estradiol inhibits the apoptosis of the cells of SDN, making it bigger in the male sex.

[Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].

We studied the growth hormone receptor (GHR) gene in 6 patients with Laron syndrome (LS) from 4 unrelated families. Exons 2 to 10 were amplified by PCR using specific intronic pairs of primers. The PCR products were directly sequenced.

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.

Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.

Familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) are consequent to inactivating mutations of the calcium-sensing receptor (CaR) gene. FHH is usually associated with heterozygous inactivating mutations of the CaR gene, whereas NSHPT is usually due to homozygous inactivation of the CaR gene. FHH is generally asymptomatic and is characterized by mild to moderate lifelong hypercalcemia, relative hypocalciuria, and normal intact PTH, whereas individuals with NSHPT frequently show life-threatening hypercalcemia.

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.

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.

Hypopituitarism, deficiency of factors V and VIII and von Willebrand factor: an uncommon association.

A 9 year-old boy with hypopituitarism and blood coagulation abnormalities is presented and discussed. The association between acquired von Willebrand disease and hypothyroidism has been reported but the combination of hypopituitarism and coagulopathy is unusual. Combined multiple clotting deficiencies are rare and, when present, factors V and VIII is the commonest association.