Illness stress-induced transient hyperglycemia in a patient with a novel YIPF5 homozygous missense variant: expanding the phenotype.

A recently described type of neonatal diabetes mellitus is caused by mutations in the YIPF5 gene and is combined with manifestations from the central nervous system, including developmental delay, epilepsy, and microcephaly. The molecular pathophysiology behind this phenotype involves the breakdown of the endoplasmic reticulum stress response due to the loss of protein folding capacity. This results in overt diabetes present from very early in life.

Osteoprotegerin in infection-induced acute inflammatory states in children.

Background And Aims: Osteoprotegerin (OPG) is a tumor necrosis factor receptor superfamily member which increases in chronic inflammation and is associated with altered bone turnover and cardiovascular complications. In this study, we investigated whether OPG increases during acute inflammatory states induced by infections in children and correlated its levels with other biomarkers.

Materials And Methods: This is a prospective study that included 59 patients with documented bacterial infections, 20 with viral infections and 20 healthy controls.

Evaluation of copeptin in children after stimulation with clonidine or L-Dopa.

Objectives: Arginine-stimulated serum copeptin has been proposed as a new method to diagnose arginine vasopressin (AVP) deficiency in children and adolescents. Herein we investigated the secretagogic potential of clonidine or L-Dopa on the copeptin serum levels in children.

Methods: Eight stimulation tests (4 with clonidine and 4 with L-Dopa) were performed in eight children (5 boys and 3 girls) with a median age of 6.

Reversibility of disturbed pituitary function in pediatric conditions with psychological stressors: implications for clinical practice.

The complex communication network between the central nervous system and the hypothalamic-pituitary axis forms the basis of endocrine functional plasticity, which facilitates adaptation to changing internal and external conditions, but also makes it vulnerable to the negative effects of stressful psychological factors. Herein, clinical conditions such as functional hypothalamic amenorrhea, eating disorders, growth faltering, post-traumatic stress disorder, and pubertal disorders that may emerge during childhood or adolescence, their origin possibly including psychological stressors, are analyzed regarding their genetic susceptibility and reversibility of endocrine function. A discussion on the optimization of therapeutic management defined by managing stress and maximizing the degree and rate of reversibility follows.

Safety and Efficacy of Bilateral Epiphysiodesis Surgery to Reduce Final Height in Extremely Tall Adolescents - A Follow-up Study.

Introduction: Treatment options in patients with extreme tall stature are limited. Bilateral epiphysiodesis has emerged as a possible treatment method aiming to reduce final height. However, there is still insufficient data on long-term safety and final height outcome.

Diabetic ketosis vs ketoacidosis as initial presentation of pediatric type 1 diabetes mellitus. Associated features and rate of progression during the first two years after diagnosis.

Aims: In this study we described the clinical and laboratory features of children presented with diabetic ketosis or diabetic ketoacidosis at diagnosis of type 1 diabetes (T1DM) and evaluated its course up to 2 years after initial diagnosis to investigate the progression rate of T1DM in both groups.

Methods: This was a prospective longitudinal cohort study that included 59 children and adolescents presented with either diabetic ketosis (DK) (n = 27) or diabetic ketoacidosis (DKA) (n = 32) at their first diagnosis with T1DM.

Results: Apart from the metabolic state of presentation at diagnosis, differences in the other basic clinical and laboratory features of both DK and DKA were not statistically significant (age, BMI, pre- diagnosis symptomatic period, HbA1c, multiplicity of autoantibodies positivity, fasting insulin, and total IgG levels), except from the C-peptide and IgA levels which were lower in DKA (p < 0.

A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.

Introduction: Although the majority of growth hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include "atypical" GHIS subjects with milder phenotypes due to very rare heterozygous growth hormone receptor (GHR) mutations with dominant negative effects.

Case Presentation: A 13-year-old pubertal boy presented with short stature (-1.7 SDS) and delayed bone age (11.

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.

Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator () gene. More recently, dominant-negative mutations within the PHD1, PHD2, and SAND domains have been associated with an incompletely penetrant milder phenotype with later onset familial clustering, often masquerading as organ-specific autoimmunity. Patients with immunodeficiencies or autoimmunity where genetic analyses revealed heterozygous mutations were included in the study and the dominant-negative effects of the mutations were functionally assessed .

Acquired idiopathic isolated ACTH deficiency with associated autoimmune thyroiditis in pediatrics: case report and review of the literature.

Objectives: Isolated ACTH deficiency (IAD) is defined as an impaired secretion of ACTH from the pituitary gland without any other anterior pituitary hormonal deficits. The idiopathic form of IAD has been described mainly in adults and is thought to be caused by an autoimmune mechanism.

Case Presentation: Herein, we present an 11-year-old _prepubertal previously healthy boy, who suffered a severe hypoglycemic episode short after the initiation of thyroxine for autoimmune thyroiditis and was finally diagnosed with secondary adrenal failure due to idiopathic IAD, after all other etiologies were excluded, thought an extensive diagnostic work-up.

A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the gene.

We investigate the genetic etiology in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of a mild and transient form of pseudohypoaldosteronism type 1 (PHA1). Twelve patients with PHA1 from four different families with clinical and biochemical data were analyzed. The coding regions of and genes were sequenced.

Fear of hyperglycaemia in parents of children with type 1 diabetes mellitus - A multi-centre multinational study.

Aims: Study aims: (1) developing and validating a novel questionnaire for measuring fear of hyperglycaemia among parents of children with type 1 diabetes (T1D) - the Hyperglycaemia Fear Survey - Parent version (FoHyper-P); (2) investigating correlations between parental fear of hyperglycaemia and objective measures of glycaemic control.

Methods: A multi-centre, multinational study of 152 parents of children with T1D was conducted in three large diabetes clinics from Israel, Poland, and Greece. Inclusion criteria were parents of children aged 6-16 years, at least 6 months from diagnosis, at least 3 months of CGM use and parental involvement in care.

Addison's disease without hyperpigmentation in pediatrics: pointing towards specific causes.

Introduction: Hyperpigmentation of skin and mucous membranes comprises a hallmark of the clinical diagnosis of Addison's disease. However, there have been reports of patients with adrenal insufficiency from diverse causes who did not develop hyperpigmentation. The pathophysiology responsible for the absence of increased pigmentation is not clearly defined in many cases.

NMR-based metabolic profiling of children with premature adrenarche.

Introduction: Premature adrenarche (PA) for long time was considered a benign condition but later has been connected to various diseases in childhood and adulthood which remains controversial.

Objective: To investigate the effect of premature adrenarche on the metabolic phenotype, and correlate the clinical and biochemical data with the metabolic profile of children with PA.

Methods: Nuclear magnetic resonance (NMR)-based untargeted and targeted metabolomic approach in combination with multivariate and univariate statistical analysis applied to study the metabolic profiles of children with PA.

A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?

The pituitary gland, as a nodal component of the endocrine system, is responsible for the regulation of growth, reproduction, metabolism, and homeostasis. Although pituitary formation though the hierarchical action of different transcription factors is well studied in mouse models, there is little evidence of the analogous developmental processes in humans. Herein, we present a female patient with a phenotype that includes blepharoptosis-ptosis-epicanthus syndrome and premature ovarian failure.

Primary Thyroid Diffuse Large B-cell Lymphoma in a Child with Hashimoto’s Thyroiditis: A Case Report.

Primary thyroid lymphoma (PTL) is a rare thyroid gland cancer, with diffuse large B-cell lymphomas (DLBCL) being extremely rare in children and adolescents. Thus, optimal therapy is debatable. We describe a rare case of thyroid DLBCL in an adolescent girl with a history of Hashimoto thyroiditis (HT), the difficulty in diagnosis and the outcome of treatment.

Myostatin serum levels in children with type 1 diabetes mellitus.

Purpose: Type 1 diabetes mellitus (T1DM) can cause several complications, among them myopathy, which can appear even in adolescents. This is of importance, since skeletal muscle is the largest of the insulin-sensitive tissues and thus plays a significant role in glucose homeostasis. A prime regulator of skeletal muscle mass is myostatin, a protein which has a negative role in skeletal muscle development but also in glucose homeostasis, causing insulin resistance.

Insulin-like growth factor ternary complex components as biomarkers for the diagnosis of short stature.

Objective: The diagnosis of growth hormone deficiency (GHD) in children is not always straightforward because insulin-like growth factor 1 (IGF-I) or GH stimulation tests may not be able to discriminate GHD from constitutional delay of growth and puberty (CDGP) or other causes of short stature.

Design: Boys and girls (n = 429, 0.7-16 years) who attended our department for short stature participated in this study.

The effect of feeding patterns on serum zonulin levels in infants at 3-4 months of age.

Zonulin so far is the only known endogenous modulator of intercellular tight junctions which regulate the intestinal permeability. Breastfeeding is considered to enhance the integrity of the gastrointestinal tract; however, limited data are available about the effect of feeding patterns on intestinal permeability. We aimed to investigate the potential association between the mode of feeding (breast versus formula milk) and the serum zonulin levels as a marker of intestinal permeability.

Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14.

Trisomy 14 (T14) mosaicism is a rare chromosomal condition characterised by various clinical features, including developmental delay, growth impairment, and dysmorphism. Here, we report on a 12-year-old female referred for cytogenetic analysis due to short stature. Standard GTG-banding analysis on the patient's peripheral blood revealed mosaic Τ14 in the form of an i(14)(q10) in 3% of cells.

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Context: Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting, and failure to thrive. The main causes of this rare autosomal recessive disorder is pathogenic variants of the CYP11B2 gene leading to aldosterone synthase deficiency.

Objective: To investigate the presence of CYP11B2 pathogenic variants in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of aldosterone synthase deficiency.

Osteoprotegerin levels in children with subclinical hypothyroidism.

Aim: In this study, we investigated the osteoprotegerin (OPG) and soluble receptor activator of nuclear factor-kappa Β ligand (sRANKL) serum levels in association with thyroid function in children with subclinical hypothyroidism.

Methods: In 143 children and adolescents with subclinical hypothyroidism and 343 with normal thyroid function, age, height, weight and pubertal status were recorded and TSH, free thyroxine (FT4), anti-thyroid antibodies, OPG and sRANKL were measured in serum. Multiple linear regression was used for the statistical analysis with P < .

Osteoprotegerin and RANKL serum concentrations in neonates of mothers with early-onset pre-eclampsia: comparison with neonates of normotensive mothers.

Background: Pre-eclampsia is a known risk factor for long-term cardiovascular complications. Osteoprotegerin (OPG) and the receptor activator of nuclear factor κB ligand (RANKL) have been implicated in the pathogenesis of cardiovascular disease. The OPG-RANKL axis function is also altered in pregnant women with pre-eclampsia, but there is lack of data regarding OPG and RANKL concentrations in their neonates.