Thyroid complications after hemopoietic stem cell transplantation in children and adolescents.

Purpose: To evaluate the prevalence of thyroid dysfunction and its association with possible contributing factors related to diagnosis and treatment in children who received hematopoietic stem cell transplantation (HSCT) in the only national transplant unit in Greece.

Methods: This is an observational, retrospective, single center cohort study that included 194 patients (58.6% boys) who survived for at least 1 year following allogeneic HSCT.

A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia.

Objectives: To highlight important clinical aspects of Persistent Müllerian duct syndrome (PMDS). PMDS belongs to the group of differences of sex development. It is attributed to mutations in genes encoding for the anti-Müllerian hormone or its type II receptor (AMHR2) and inherited via an autosomal recessive transmission.

In vivo magnetic resonance spectroscopy for the differential diagnosis of a cerebral mass in a boy with precocious puberty: a case report and review of the literature.

Purpose: To highlight the role of in vivo magnetic resonance spectroscopy (MRS) as a non-invasive tool that can clarify the etiology of sellar tumors by presenting the case of a boy with central precocious puberty (CPP) and to review the current literature.

Methods: A 4-year-old boy was admitted to our hospital due to repeated episodes of focal and gelastic seizures in the previous year. Clinical examination (testicular volume 4-5 ml bilaterally, penile length of 7.

An 11-year-old girl with Autoimmune Polyglandular Syndrome (APS) type 2: a case report and review of literature.

Objectives: Autoimmune polyglandular syndrome type 2 (APS2) is characterized by autoimmune adrenal insufficiency (AI) in conjunction with autoimmune thyroid disease (AITD) and/or type 1 diabetes mellitus (T1DM). The aim is to report an 11-year-old girl with concurrence of Addison disease, celiac disease and thyroid autoimmunity.

Case Presentation: She initially presented at the age of 5 with vomiting, dehydration, hyponatremia, hyperkalemia and low glucose.

Hypertriglyceridemic Waist Phenotype and Its Association with Metabolic Syndrome Components, among Greek Children with Excess Body Weight.

The hypertriglyceridemic waist (HTGW) phenotype is characterized by abdominal obesity and elevated serum triglycerides. We aimed to assess the prevalence of the HTGW phenotype among children with overweight or obesity and its association with indices of insulin resistance (IR) and dyslipidemia. A total of 145 children with mean age of 10.

Detection of hepatocyte nuclear factor 4A() gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother.

Objectives: Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms.

Case Presentation: In this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH.

Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.

Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) concentrations as the result of end-organ unresponsiveness to PTH. Case presentation We present a 14-year-old boy, who was admitted with severe symptomatic hypocalcaemia, absence of dysmorphic features and Albright's hereditary osteodystrophy features.

Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis.

Objective: Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding aldosterone synthase are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide.

Τriglycerides-glucose (TyG) index is a sensitive marker of insulin resistance in Greek children and adolescents.

Purpose: To investigate the association between Triglyceride-glucose (TyG) index and the Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) and Matsuda indices in Greek obese children and adolescents, in order to assess whether it could be used as a predictor of insulin resistance.

Methods: 367 children (47.7% boys) with mean age of 9.

Paediatric obesity and brain functioning: The role of physical activity-A novel and important expert opinion of the European Childhood Obesity Group.

While most of the time unconsidered, child and adolescent obesity has been also associated with impaired brain health and function that can definitely affect their social interaction and integration, and then well-being and mental health. The European Childhood Obesity Group recently gathered experts in the field who discussed the main available and reliable evidence regarding the role of physical activity on brain health and cognitive functioning in children and adolescents with obesity and who propose here their main conclusions and recommendations.

Validation of the Greek version of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire.

Background The Quality of Life in Short Stature Youth (QoLISSY) questionnaire is a condition-specific instrument for measuring the health-related quality of life (HRQoL) in short statured children/adolescents from patients' and parents' perspectives. The aim of this study was to investigate the psychometric properties of the Greek version of the QoLISSY questionnaire. Methods The original European QoLISSY scales were translated into Greek following the guidelines for linguistic validation and applied to 184 dyads of children 8-18 years old and their parents, as well as to 14 parents of children 4-7 years old in Greece.

Ectopic Intrathyroidal Thymus in Childhood: A Sonographic Finding Leading to Misdiagnosis.

Background: During gestation, the primordial thymus migrates from the pharynx to the anterior mediastinum, thus thymic tissue can remain at any point along this path. Intrathyroidal thymic remnants are rare, and their sonographic patterns have only recently been described. This retrospective study presents the sonographic appearance of ectopic intrathyroidal thymus and emphasizes the role of sonography in order to avoid misdiagnosis.

OB CITY-Definition of a Family-Based Intervention for Childhood Obesity Supported by Information and Communication Technologies.

Childhood obesity is becoming one of the 21st century's most important public health problems. Nowadays, the main treatment of childhood obesity is behavior intervention that aims at improve children's lifestyle to arrest the disease. Information and communication technologies (ICTs) have not been widely employed in this intervention, and most of existing ICTs systems are not having a long-term effect.