Dehydroepiandrosterone sulfate levels at 7 years old and cardio-metabolic factors at 10 and 13 years old - the generation XXI birth cohort.

Objectives: Premature adrenarche is often linked to a cluster of endocrine-metabolic risk factors. Our objective was to explore the association of dehydroepiandrosterone sulfate (DHEAS) levels at age 7 with cardio-metabolic traits at ages 10 and 13, independently of adiposity and pubertal stage.

Methods: Longitudinal study of 603 individuals (301 girls/302 boys) from the Generation XXI birth cohort.

Association between Elevated Iodine Intake and IQ among School Children in Portugal.

The goal of this work was to examine whether elevated iodine intake was associated with adverse effects on IQ among school-age children in Portugal. In a representative sample of children from the north of the country, IQ percentiles by age (assessed with Raven’s Colored Progressive Matrices) were dichotomized to <50 (“below-average” IQs) and ≥50. Morning urine iodine concentrations, corrected for creatinine, were dichotomized to <250 µg/g and ≥250 µg/g, according to the European Commission/Scientific Committee on Food’s tolerable upper level of daily iodine intake for young children.

Dehydroepiandrosterone sulphate levels at 7 years old are positively associated with more advanced pubertal development between 10 and 13 years old in girls.

Objective: We aimed to explore the association between dehydroepiandrosterone sulphate (DHEAS) levels at age 7, pubertal development between ages 10 and 13, and age at menarche.

Design And Participants: This is a longitudinal study of 603 individuals (301 girls, 302 boys) from the Generation XXI cohort.

Measurements: Evaluation of the participants at ages 7, 10 and 13 included anthropometry and Tanner staging.

Association between dehydroepiandrosterone sulphate levels at 7 years old and bone mineral density at 10 years old: a prospective cohort study.

Unlabelled: We aimed to explore the effect of dehydroepiandrosterone sulphate (DHEAS) at age 7 on areal bone mineral density (aBMD) at age 10 and to distinguish the direct and indirect effects (explained by sexual maturity and by aBMD at age 7), for each sex, after adjustment for body mass index (BMI) z-score. In a subsample of 274 children (139 girls, 135 boys) from Generation XXI cohort, aBMD was assessed with dual-energy X-ray absorptiometry (DXA) scan at ages 7 and 10. The increase in aBMD at age 10 for each 10 µg/dL increase in DHEAS levels at age 7 was estimated using path analysis.

Differences in hormonal levels between heterozygous pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.

Objective: mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due to clinical and biochemical criteria and who have undergone molecular analysis.

Persistent weight gain between 0 and 4 years of age is associated with higher dehydroepiandrosterone sulphate levels at 7 years old: Data from the Generation XXI birth cohort.

Objective: To assess the influence of longitudinal weight gain from 0 to 4 years old on dehydroepiandrosterone sulphate (DHEAS) levels at 7 years old.

Design: DHEAS levels were measured at 7 years old in a subsample of 587 children from the Generation XXI birth cohort. Weight trajectories (0-4 years of age) were identified using model-based clustering and categorized as "normal weight gain," "weight gain during infancy," "weight gain during childhood" and "persistent weight gain.

Association of dehydroepiandrosterone sulfate, birth size, adiposity and cardiometabolic risk factors in 7-year-old children.

Background: Low birth size (BS) and obesity have been associated with higher dehydroepiandrosterone sulfate (DHEAS) levels in childhood, insulin acting as a mediator, despite contradictory findings. To further explore these issues, we studied the associations between DHEAS, BS, adiposity, maternal characteristics, and cardiometabolic risk indicators, in participants of Generation XXI, a population-based birth cohort.

Methods: A sample of 700 children (mean age 7.

Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome.

Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic ACTH deficiency and primary hypogammaglobulinemia, caused by pathogenic variants of the nuclear factor kappa-B subunit 2 () gene. We report the case of a 9-yr-old boy diagnosed with common variable immunodeficiency at the age of 3, who is under monthly intravenous immunoglobulin. The patient was admitted twice to the pediatric emergency service at the age of 9 due to symptomatic hypoglycemic events.

Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth.

CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attained.

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.

Congenital Adrenal Hyperplasia is a group of genetic autosomal recessive disorders that affects adrenal steroidogenesis in the adrenal cortex. One of the most common defects associated with Congenital Adrenal Hyperplasia is the deficiency of 21-hydroxylase enzyme, responsible for the conversion of 17-hydroxyprogesterone to 11-deoxycortisol and progesterone to deoxycorticosterone. The impairment of cortisol and aldosterone production is directly related to the clinical form of the disease that ranges from classic or severe to non-classic or mild late onset.

46,XX male disorder of sexual development.

An individual's sexual phenotype is usually determined by the presence or absence of the Y chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange through male meiosis, a few individuals develop male genitalia in the absence of the Y chromosome. This case report presents an adolescent referred to the Pediatric Endocrinology Unit due to bilateral gynecomastia. A diagnosis of hypergonadotropic hypogonadism was established and chromosomal analysis disclosed 46,XX karyotype, with the gene locus found on one of his X chromosomes.

Juvenile breast hypertrophy.

Not required for Clinical Vignette.

Clinical, biochemical and gender characteristics of 97 prepubertal children with premature adrenarche.

Background Premature adrenarche (PA) is defined as the appearance of clinical signs of androgen action associated with levels of dehydroepiandrosterone sulfate (DHEAS) ≥40 μg/dL, before age 8 years in girls and 9 years in boys, without breast or testicular enlargement. The aim of this study was to characterize a population of prepubertal Caucasian children with PA and to compare them with regard to gender and body mass index (BMI) (normal BMI vs. overweight/obesity).

Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.

Background Permanent primary congenital hypothyroidism (CH) can be caused by thyroid dysgenesis or dyshormonogenesis. A molecular genetic study is recommended in dyshormonogenesis, in syndromic hypothyroidism and when there is a family history of CH. The aim of this study was to identify a monogenic etiology for CH in selected individuals from a cohort of primary permanent CH.

Arterial stiffness in children and adolescents with and without continuous insulin infusion.

Background Arterial stiffness is a consequence of aging, but there are several diseases that contribute to this process. The evaluation of pulse wave velocity (PWV) allows a dynamic evaluation of vascular distensibility and the detection of atherosclerosis at an early stage. It was intended to evaluate the PWV in children and adolescents with type 1 diabetes mellitus (T1DM) and to compare their outcome according to the type of treatment used.

Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report.

Background Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing's syndrome (CS). It may occur sporadically or as part of a familial syndrome called Carney complex (CC). It is a rare entity, with fewer than 750 cases reported.

Pituitary incidentalomas in paediatric age are different from those described in adulthood.

Purpose: Guidelines on pituitary incidentalomas evaluation and management are limited to adults since there are no data on this matter in the paediatric population. We aim to analyse the morphologic characteristics, hormonal profile and follow-up of these lesions in children.

Methods: We have searched for pituitary incidentalomas in the neuroimaging reports and electronic medical records of the Paediatric Endocrinology Clinic of our centre.

Metabolic risk factors in adolescent girls with type 1 diabetes.

Background: The incidence of pediatric metabolic syndrome (MS) has progressively increased. The incidence of type 1 diabetes mellitus (T1DM) has also increased. Thus, some children and adolescents with T1DM exhibit MS parameters.

Phthalates and type 1 diabetes: is there any link?

Phthalates are a group of chemical compounds used as plasticizers in the manufacture of plastic materials. They can be present in many commonly used products. There seems to be a relationship between exposure to phthalates and the occurrence of metabolic dysfunctions, such as a decrease in glucose tolerance, oxidative stress, loss of beta cells, and a decrease in insulin synthesis.

Can Antioxidative Status Be Involved in Type 1 Diabetes?

Background: Type 1 diabetes mellitus (T1DM) is an autoimmune disease with beta-cell destruction, resulting in insulin deficiency. It is now clear that environmental factors also play a role in disease development. The prevalence of type 1 diabetes in children and young people in Portugal is 0.

Iodine Status and Iodised Salt Consumption in Portuguese School-Aged Children: The Iogeneration Study.

The World Health Organization promotes salt iodisation to control iodine deficiency. In Portugal, the use of iodised salt in school canteens has been mandatory since 2013. The present study aimed to evaluate iodine status in school-aged children (6-12 years) and to monitor the use of iodised salt in school canteens.

Hyponatremia in a Teenager: A Rare Diagnosis.

Introduction: Hyponatremia is a common electrolyte alteration which has the potential for significant morbidity and mortality. Endocrine disorders, such as primary hypothyroidism and adrenal insufficiency are uncommon causes of hyponatremia. We present the case of a teenager with symptomatic hyponatremia caused by a rare disorder.

Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea.

Permanent neonatal diabetes (PNDM) can result from activating heterozygous mutations in KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic ATP-sensitive potassium channels (KATP). Sulfonylureas promote KATP closure and stimulate insulin secretion, being an alternative therapy in PNDM, instead of insulin.

The dilemma of the gender assignment in a Portuguese adolescent with disorder of sex development due to 17β-hydroxysteroid-dehydrogenase type 3 enzyme deficiency.

Unlabelled: The development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17β-hydroxysteroid-dehydrogenase type 3 (17βHSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (Δ4) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development.