Endocrine Abstracts

Background: Childhood cancer survivors (CCS) are at high risk of 25-hydroxivitamin D (25(OH)D) inadequacy and the lack of a consensual definition has hampered its epidemiological study. Despite international recommendations, bone health and vitamin D inadequacy (VDI) are still quite undervalued, even in a high-risk population as CCS, due to disease treatment, physical limitations and insufficient solar exposure. Objectives: Our aims were to determine the...

Introduction: Polyglandular Autoimmune Syndromes (PAS) are a group of diseases characterized by the association of different endocrine and non-endocrine autoimmune pathologies. Although the diagnosis of PAS is more frequent in adulthood, it can occur in pediatric age, with PAS type 3 being the most frequent.Objective: To study the prevalence and characteristics of PAS in the pediatric population of a tertiary center.Methods: Retros...

Introduction: Type 1 diabetes (T1D) is the most frequent children’s endocrinopathy in Portugal. The duration of the disease and metabolic control may affect the final height of pediatric patients. Despite the metabolic advantages of technological advances, such as continuous subcutaneous insulin perfusion (CSII), the effect on growth is unclear.Aim: To assess the impact of T1D treatment, with multiple daily injections (MDI) or CSII, on growth.<p...

Introduction: Diabetic ketoacidosis (DKA) is an endocrine emergency and the leading cause of morbi-mortality in children with type 1 diabetes mellitus (1DM). DKA treatment is still controverse, mainly regarding hydroelectrolytic replacement and insulin dose.Aims: To evaluate efectiveness and safety of our tertiary centre protocol in DKA treatment, which included initial volume expansion with isotonic saline in the first two hours followed by 0.45% sodium...

Introduction: Adrenal insufficiency is a life-threatening disease caused by primary adrenal failure or secondary adrenal failure due to an impairment of hypothalamic-pituitary axis that affects adrenal cortisol synthesis. It is characterized by deficient production of glucocorticoids and may be associated with mineralocorticoid and androgens deficiency. Prompt diagnosis and management are essential and may even be life-saving.Methods: We retrospectively ...

Background: Adrenal insufficiency (AI) is a rare condition affecting children, potentially life-threatening. Autoimmune adrenalitis accounts for 15% of all cases of primary adrenal insufficiency in pediatric age. Most symptoms are usually unspecific, making the diagnosis quite challenging.Objective: The aim of the study was to describe clinical presentation, biochemical abnormalities, treatment and the clinical course of patients with autoimmune AI.<...

Introduction: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare form of central diabetes insipidus (CDI) characterized by childhood-onset progressive polydipsia and polyuria due to mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene.Case description: Two male siblings were referred at 1 month of age to exclude CDI owing to a family history of CDI in the father and paternal grandfather. The proband was the fa...

Background: Thyroid nodule in the pediatric age group is rare, but the rate of malignancy is much higher than adult population. Fine needle aspiration biopsy (FNAB) is an accurate test commonly used to determine whether thyroid nodules are malignant in adults. However, less is known about its diagnostic accuracy for this purpose in children.Aim: To characterize the outcomes of FNAB of nodular thyroid disease at a pediatric tertiary-care institution and t...

Introduction: Germline mutations in tumour suppressor gene PTEN cause heterogeneous phenotypes, that comprise the spectrum of PTEN-hamartoma tumour syndrome (PHTS). Manifestations include macrocephaly, developmental delay, cutaneous lesions, intestinal polyposis and increased risk of neoplasms. Thyroid nodules are identified in about 75% of patients and follicular cell-derived cancer affects 35% of cases, some of which diagnosed as early as 7 years old.C...

Introduction: Premature pubarche (PP) is most often related to idiopathic premature adrenarche (IPA). However, it is a diagnosis of exclusion and differential diagnosis must include milder and nonclassic variants of congenital adrenal hyperplasia (CAH).Purpose: To identify clinical predictors of CAH and IPA in children with PP.Materials and methods: A retrospective study was conducted including children seen for PP between 2001 and...