Endocrine Abstracts

Background: Klinefelter syndrome is the most common sex chromosome abnormality causing primary hypogonadism and affects approximately 1 to 2.5 per 1000 males. However, other rarer sex chromosomal abnormalities have been associated to testicular dysfunction.Clinical Case: A thirteen-year-old male was referenced to Pediatric consultation due to obesity starting around age four. Perinatal background: maternal gestational diabetes controlled with diet and 10...

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: Graves’ disease (GD) is the most common cause of hyperthyroidism in children. Therapeutic options available (anti-thyroid drugs, radioactive iodide, and thyroidectomy) are associated with complications and treatment of this age group remains controversial.Objective: To review our experience in the management of pediatric patients with GD.Materials and methods: Retrospective review of 35 children, diagnosed betwee...

Introduction: The final height of children with congenital adrenal hyperplasia (CAH) seems to be compromised. That can happen because of the disease itself or because an excessive dose of corticoids used during treatment. This work evaluates the final stature SDS of a group of patients with CAH and correlates it with 17-hydroxyprogesterone levels (17OHP) and corticoid dose at 10 years of age and at puberty onset.Methods: Selection of children with CAH di...

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...