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: 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: 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...

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...

BackgroundAromatase deficiency is an extremely rare autosomal recessive condition due to mutations on CYP19A1 gene. Despite the size and complexity of this gene, only about 40 cases with aromatase deficiency have been reported.Case reportThe patient was born at term from non-consanguineous parents. Maternal signs of virilization were verified during third trimester (deep voice, acne on arms and face ...

Introduction: In our country somatropin treatment is supported by the National Health Service. A National Committee (CNNHC) rules and analysis the submission papers of patients with: isolated/multiple somatotropin deficiency (STD), short stature in: renal chronic disease (DRC), small for gestational age (SGA), Turner syndrome (TS) and Prader Willi syndrome (PWS). In adults only isolated somatropin deficiency diagnosed in childhood.Aims: To analyze the ch...