Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI.

Objective: To evaluate the baseline and follow-up clinical and radiological characteristics of a paediatric cohort initially diagnosed with isolated congenital growth hormone deficiency (IGHD) and pituitary morphology abnormality in MRI.

Patients And Methods: Observational, ambispective and longitudinal review of paediatric patients with an initial diagnosis of growth hormone deficiency with pituitary morphology abnormality in MRI followed-up in a single tertiary hospital.

Results: After mean 11.

Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.

Objective: Heterozygous germline inactivating mutations in GNAS can cause hormonal resistance, while activating mutations, usually somatic, result in constitutive cyclic adenosine monophosphate (cAMP) stimulation. Recent research has described germline activating variants leading to nephrogenic syndrome of inappropriate antidiuresis (NSIAD). The present study aims to characterise 4 families with an unusual combination of symptoms indicative of loss of Gsα function and a tendency to hyponatraemia compatible with NSIAD.

Global, multi-center, repeat-dose, phase 2 study of RZ358 (ersodetug), an insulin receptor antibody, for congenital hyperinsulinism.

Background: Congenital hyperinsulinism (cHI) is a rare, primarily pediatric disease characterized by dysregulated insulin secretion resulting in severe, persistent hypoglycemia, frequently leading to lifelong neurologic impairments. The safety, pharmacokinetics, and glycemic efficacy of ersodetug, a fully human monoclonal antibody that allosterically and reversibly binds the insulin receptor (INSR) and reduces excess insulin action, are being evaluated for the treatment of cHI-related hypoglycemia.

Methods: A global, open-label, phase 2b study (ClinicalTrials.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes.

Introduction: 11β-hydroxylase (11β-OH) deficiency is the second most frequent cause of classic congenital adrenal hyperplasia (CAH) (5%-8% of cases). Clinically, it is characterized by virilization and arterial hypertension. The objective of this study was to describe the clinical, biochemical and genetic characteristics classic 11β-OH deficiency in patients managed in our hospital and its outcomes.

Patients with Thyroid Dyshormonogenesis and Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in can cause partial to total iodination organification defects and clinical heterogeneity, from transient to permanent congenital hypothyroidism. The aim of this study was to undertake a molecular characterization and genotype-phenotype correlation in patients with THD and candidate variants in .

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the gene.

Introduction: Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to () gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe permanent hypothyroidism. We present high-throughput sequencing results of patients with variants.

Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.

Objectives: To report the association of zinc finger and SCAN domain containing 1 antibodies (ZSCAN1-abs) with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome in patients without tumor.

Methods: Patients with symptoms compatible with ROHHAD syndrome but without an associated tumor were selected from our database. Serum and CSF samples were examined for the presence of ZSCAN1-abs by an in-house cell-based assay.

Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia.

Background: Children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency require treatment with glucocorticoids, usually at supraphysiologic doses, to address cortisol insufficiency and reduce excess adrenal androgens. However, such treatment confers a predisposition to glucocorticoid-related complications. In 2-week phase 2 trials, patients with CAH who received crinecerfont, a new oral corticotropin-releasing factor type 1 receptor antagonist, had decreases in androstenedione levels.

Phosphate Uptake and Its Relation to Arsenic Toxicity in Lactobacilli.

The use of probiotic lactobacilli has been proposed as a strategy to mitigate damage associated with exposure to toxic metals. Their protective effect against cationic metal ions, such as those of mercury or lead, is believed to stem from their chelating and accumulating potential. However, their retention of anionic toxic metalloids, such as inorganic arsenic, is generally low.

Vitamin D Status in an Italian Pediatric Cohort: Is There a Role for Tobacco Smoking Exposure?

Objective: Vitamin D deficiency is a common public health issue worldwide. The purpose of this study was to investigate the vitamin D status and its potential determinants in children residing in Sardinia (40°N), Italy.

Methods: Children were enrolled over a 12-month period.

Tissue-Tracking Mitral Annular Displacement in Neonates: A Novel Index of Left Ventricular Systolic Function.

Objectives: To assess the feasibility, accuracy, and reproducibility of tissue-tracking mitral annular displacement (TMAD) compared with other measures of left ventricular systolic function in healthy preterm and term neonates in the transitional period.

Methods: This was a prospective observational study. Two echocardiograms were performed at 24 and 48 hours of life.

Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients.

Background: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Delayed puberty, growth retardation, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs, with the most frequent being prolactinomas.

Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study.

Importance: Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development.

Objective: This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development.

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

Context: Patients with congenital hyperinsulinism due to ABCC8 variants generally present severe hypoglycemia and those who do not respond to medical treatment typically undergo pancreatectomy. Few data exist on the natural history of non-pancreatectomized patients.

Objective: This work aims to describe the genetic characteristics and natural history in a cohort of non-pancreatectomized patients with congenital hyperinsulinism due to variants in the ABCC8 gene.

Application of "Behind the Barriers" Model at Neighbourhood Scale to Improve Water Management under Multi-Risks Scenarios: A Case Study in Lyon, France.

In modern urban areas, water management highly depends on the socio-ecological urban water cycle (UWC) that heavily relies on water infrastructures. However, increasing water-related hazards, natural and/or human-based, makes it difficult to balance water resources in the socio-ecological UWC. In the last decade, urban infrastructure resilience has rapidly become a popular topic in disaster risk management and inspired many studies and operational approaches.

How much does a liter of donor human milk cost? Cost analysis of operating a human milk bank in Italy.

Background: To date, 40 Human Milk Banks (HMB) have been established in Italy; however, recent cost analysis data for operating an HMB in Italy are not available in the literature.

Methods: This study was a cross-sectional study performed at "Bambino Gesù" Children's Hospital in Rome, Italy in 2019. We assessed the one-year operational costs and, the per liter unit costs at our HMB.

Novel variant in as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.

The palmitoylation of the Hedgehog (Hh) family of morphogens, named sonic hedgehog (SHH), desert hedgehog (DHH), and Indian hedgehog (IHH), is crucial for effective short- and long-range signaling. The hedgehog acyltransferase (HHAT) attaches the palmitate molecule to the Hh; therefore, variants in cause a broad spectrum of phenotypes. A missense novel variant c.

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.

Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is an autosomal recessive multi-system disorder, which mainly incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency. Other variable endocrine manifestations are described. In this study, we aimed to comprehensively annotate the endocrinopathies associated with pathogenic SGPL1 variants and assess for genotype-phenotype correlations by retrospectively reviewing the reports of endocrine disease within our patient cohort and all published cases in the wider literature up to February 2022.

A New Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report.

(X chromosome) is one of the recognized genes related to different sex development. It is expressed in testis and ovaries and seems to be involved in fetal sex development and in adult reproductive function, including testosterone biosynthesis. However, its exact role remains unclear.

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.

Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4).

Design: Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries.

Congenital Heart Disease: Growth Evaluation and Sport Activity in a Paediatric Population.

(1) Objective: To evaluate: (i) the associations of age and disease severity with anthropometric indices and weight status, (ii) the difference in the frequency of sports activity among different levels of disease severity in paediatric patients with congenital heart disease (CHD). (2) Methods: Clinical data of Caucasian children (aged 2-18 years) diagnosed with CHD (2005-2018) were retrospectively collected from the electronic register of outpatient visits. Of the 475 children with CHD, 368 children and their 1690 complete anthropometric measurements were eligible for inclusion in our analysis.