Endocrine Abstracts

Introduction: Progressive osseous heteroplasia (POH) is a rare genetic condition of progressive heterotopic ossification (HO), from skin and subcutaneous tissues into deep skeletal muscles. Most cases are caused by heterozygous inactivating mutations of GNAS gene. Related disorders are Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP), and primary osteoma cutis. Distinction from other GNAS-based conditions is made by the extension of HO from superficial ...

Aim: Somatic growth results from the generation of new support and connective tissue. Since collagen is the major protein constituent of connective tissue, its synthesis must be a prerequisite for the normal growth. The aim of the study was to determine age-related reference intervals for P3NP, a collagen – formation marker in a group of normal height prepubertal children and to compare to IGF1 levels.Subjects: Forty-three prepubertal children, male...

Neurofibromatosis 1 (NF1) is a rare disease determined by mutations in the RAS-MAPK pathway. It can cause precocious or delayed puberty.Case 1: A 11 years 9 months old girl known with Neurofibromatosis – Noonan Syndrome (NF-NS) was admitted for severe growth deficit (-5.14 SDS). She had over 20 café au lait spots, hypertelorism, pterigium colli, B1 P1. At 18 months she had had surgery for pulmonary stenosis and after that a left ventricular tum...

Objective: To evaluate the comparative effects of different glucocorticoid treatments on growth and sexual maturation in patients with congenital adrenal hyperplasia.Patients and methods: We conducted a retrospective observational cohort study in 78 patients (60 girls, 18 boys) diagnosed with congenital adrenal hyperplasia (CAH), followed-up for a period of 5 years. The majority had 21-hydroxylase deficiency (75 patients), 2 had 11-β hydroxylase def...

Introduction: Pituitary adenomas (PAs) are rare in childhood and the transition period, can result from AIP/MEN1 mutations, are difficult to manage and severely impair quality-of-life.Aim: To describe the clinical and genetic characteristics of patients with PA onset before 21 years old.Patients and methods: Retrospective study (1980–2015). Clinical, imaging and hormonal data, AIP/MEN1 sequencing.<p class...

Background: Obesity is associated with adipocyte dysfunction, characterized by an impaired secretion of adipokines, which leads to a systemic inflammatory status.Aim: To characterize adipokines’ profile in a group of obese children and adolescents.Method: A case–control study comparing 102 obese children (BMI ≥95th percentile; aged 10–18 years) to a group of 43 healthy controls matched for age and pubertal stat...

Background: Oral glucose tolerance test (OGTT) is a step in the evaluation of children and adolescents with tall stature for documenting a possible autonomous GH secretion.Aim: Assessment of GH dynamics in OGTT in children and adolescents with tall stature in various stages of pubertal development for documenting a possible autonomous GH secretion.Method: Our study included 44 subjects, 18 girls and 26 boys, with age between 6.5 an...

Introduction: In human cancer cells DNMTs are responsible for both de novo and maintenance methylation of tumor suppressor genes. Many studies have analyzed the relationship between the altered expression of DNMT1 and DNA methylation in cancer.Aim: To analyze DNMT1 expression in thyroid papillary carcinoma.Design: 49 patients aged 10–82 years hospitalized for thyroidectomy were included between January 2013 and July 2...

Introduction: HOXB4 functions as a transcription factor involved in cell differentiation during embryogenesis and plays a role in apoptosis.Aim: This study analyzed HOXB4 methylation status in thyroid papillary carcinoma.Method: 54 patients aged 10–82 years hospitalized for thyroidectomy were included between January 2013 and July 2013. The inclusion criterion was patients with thyroid nodules with indication for surgery and t...