Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies.

: Recent advances in genetic research have significantly expanded our understanding of the molecular bases of growth hormone deficiency (GHD), and numerous genes have been identified as impacting final stature through isolated or combined abnormalities of growth hormone (GH), GH insensitivity, and insulin growth factor-1 (IGF-I) resistance. : This review summarizes the current knowledge on the genetic causes of GHD in the context of pediatric short stature, emphasizing the role of next-generation sequencing technologies in real-life clinical practice and the potential impact of genetic diagnosis over therapeutic decisions regarding GH replacement therapy. : Articles from PubMed up to April 2025 dealing with GHD were retrieved and analyzed, focusing on genes influencing the GH pathway and stunted growth, with focused attention on relevant molecular and clinical studies.

Prevalence and Metabolic Characterization of Polycystic Ovary Syndrome in a Cohort of Patients Diagnosed with Spina Bifida: Study Protocol.

Myelomeningocele, commonly known as spina bifida, is a congenital malformation of the spinal cord. Polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disorder affecting 9-21% of women of reproductive age and is characterized by hyperandrogenism and ovulatory dysfunction. Hyperhomocysteinemia, insulin resistance, metabolic syndrome, and alterations in inositol metabolism play a crucial pathophysiological role in both PCOS and spina bifida; however, the potential link between these two significant conditions has not been explored.

Distinguishing organic from idiopathic central precocious puberty: clinical characteristics and predictive factors for organic etiology in a multicenter Italian cohort study.

Objectives: Central Precocious Puberty (CPP) is characterized by the early onset of secondary sexual characteristics before the age of 8 in girls and 9 in boys. While rapid progression of sexual development may indicate an underlying organic cause, such as the presence of anatomical abnormalities of the hypothalamic-pituitary axis, no definitive diagnostic standard exists. Therefore, diagnosis requires a comprehensive assessment incorporating clinical, biochemical, and radiological evaluations.

Neonatal Symptoms in Pediatric Idiopathic Growth Hormone Deficiency: Prevalences and Insights.

Background: Growth hormone deficiency (GHD) is one of the primary endocrine-related causes of short stature in pediatric patients; while neonatal GHD symptoms are well-documented in populations with known genetic and/or organic causes, their exact prevalences in pediatric patients categorized as having idiopathic GHD remains unclear.

Materials And Methods: We retrospectively analyzed the medical records of patients with idiopathic GHD followed at the Pediatric Endocrinology Unit of the Fondazione Policlinico Universitario A. Gemelli IRCCS starting from January 2010.

Efficacy and Safety of Growth Hormone (GH) Therapy in Patients with SHOX Gene Variants.

Background: Among the potential indications for growth hormone (GH) therapy is the presence of mutations in the SHOX (short stature homeobox-containing) gene, located in the telomeric pseudotautosomal region (PAR1) on the short arm of both sex chromosomes. Despite general recommendations supporting GH therapy in these cases, there is a lack of comprehensive evidence specifically evaluating its efficacy and safety in this subgroup of pediatric patients.

Aim: The objective of this scoping review was to evaluate the efficacy and safety of growth hormone therapy in patients with SHOX gene variants, providing a narrative synthesis of the included studies.

The Impact of Acquired Hypothyroidism on the Growth and Metabolic Profiles of Pediatric Patients: A Retrospective Monocentric Study.

Hypothyroidism is the most common thyroid dysfunction in childhood, resulting from the decreased biological activity of thyroid hormones in tissues. Pediatric patients with hypothyroidism, when left untreated or when thyroid hormone levels fail to normalize despite treatment, may exhibit various complications such as growth retardation, obesity, and hypercholesterolemia. We conducted a monocentric retrospective study to evaluate potential differences in obesity rates and auxological parameters between healthy patients and children with hypothyroidism undergoing levothyroxine replacement therapy.

Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy.

Objectives: We conducted a scoping review and analyzed the medical literature on PubMed to assess any potential short-term and long-term benefits of pubertal induction in patients with Duchenne muscular dystrophy (DMD).

Content: We identified six articles from our research cumulatively reporting clinical data from 58 pediatric patients with DMD, of age between 12 and 17.7 years.

The conspiring role of gut microbiota as primer of autoimmune thyroid diseases: A scoping focus.

The thyroid gland is the body's largest single organ specialized for endocrine hormone production, and still unraveled mechanisms regulate its interaction between the hypothalamic-pituitary-thyroid axis and composition of the gut microbiota: in particular, a disrupted integrity of the intestinal barrier, causing dysbiosis and increasing detrimental substances or reducing beneficial metabolites, such as short-chain fatty acids (SCFAs) with proinflammatory effects, may be crucial for the induction of an autoimmune thyroid disease. More specifically, Lactobacilli and Bifidobacteria have a role in this partnership through a "molecular mimicry" mechanism, as their protein sequences share structural similarity with thyroid peroxidase and thyroglobulin. Lactobacilli can also increase T helper 17 cells, modifying the number of colonic regulatory T cells, largely implicated in the maintenance of immunological tolerance at the gut barrier.

Endocrinologic Dysfunctions and Neuropsychiatric Sequelae in Pediatric Patients With a History of Central Nervous System Infection (ENDLESS): A Prospective Monocentric Study.

Introduction: Central nervous system (CNS) infections represent some of the most critical pediatric health challenges, characterized by high mortality rates and a notable risk of long-term complications. Despite their significance, standardized guidelines for endocrinological follow-up of CNS infection survivors are lacking, leading to reliance on the expertise of individual centers and clinicians.

Materials And Methods: Prospective monocentric observational study conducted at the Fondazione Policlinico Universitario Agostino Gemelli in Rome, Italy.

Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk.

Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor () gene. We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel variant (c.159_207del).

Predictive value of transabdominal pelvic ultrasonography for the diagnosis of central precocious puberty: A single-center observational retrospective study.

This single-center, observational, retrospective study aimed to evaluate the diagnostic accuracy of pelvic ultrasonographic parameters for detecting central precocious puberty (CPP) in a cohort of female pediatric patients undergoing gonadotropin stimulation tests. The study population consisted of 47 female patients with a suspicion of CPP. Thirty four out of 47 patients (72.

Impact of Sodium Glucose Cotransporter 2 Inhibitors (SGLT2i) Therapy on Dementia and Cognitive Decline.

Dementia is an age-related syndrome characterized by the progressive deterioration of cognition and capacity for independent living. Diabetes is often associated with cognitive decline and shares similar pathophysiological mechanisms with dementia, such as systemic inflammation, oxidative stress, insulin resistance, and advanced glycation end-products formation. Therefore, adequate diabetes management may reduce the risk of cognitive decline, especially in patients with other comorbidities and risk factors.

Lipid Profile and Triglyceride-Glucose Index (TyG) Alterations in a Single-Center Cohort of Children Diagnosed with Central Precocious Puberty.

A correlation between plasma lipids and timing of pubertal development has been hypothesized, though lipid influence remains unclear in central precocious puberty (CPP). To assess any possible alterations in the lipid profile and triglyceride glucose index (TyG) in children diagnosed with CPP. Retrospective single-center study conducted on children (aged 6.

Hypovitaminosis D and Leukocytosis to Predict Cardiovascular Abnormalities in Children with Kawasaki Disease: Insights from a Single-Center Retrospective Observational Cohort Study.

An aberrant immune response involving yet unidentified environmental and genetic factors plays a crucial role in triggering Kawasaki disease (KD). The aim of this study was to assess general and laboratory data at the onset of KD in a single-center cohort of children managed between 2003 and 2023 and retrospectively evaluate any potential relationship with the development of KD-related cardiovascular abnormalities (CVAs). We took into account a total of 65 consecutive children with KD (42 males, median age: 22 months, age range: 2-88 months) followed at the Department of Life Sciences and Public Health in our University; demographic data, clinical signs, and laboratory variables at disease onset, before IVIG infusion, including C-reactive protein, hemoglobin, white blood cell (WBC) count, neutrophil count, platelet count, aminotransferases, natremia, albumin, total bilirubin, and 25-hydroxyvitamin D were evaluated.

Cardiometabolic Risk Assessment in a Cohort of Children and Adolescents Diagnosed with Hyperinsulinemia.

Background: Individuals with hyperinsulinemia may initially not meet any diagnostic criteria for metabolic syndrome, though displaying a higher risk of cardiovascular complications combined with obesity, diabetes, and hypertension.

Aim: The main objective of our study was to assess the diagnostic accuracy of various cardiovascular risk indices in hyperinsulinemic children and adolescents; a secondary objective was to estimate the optimal cut-offs of these indices.

Patients And Methods: This retrospective single-center study was conducted on 139 patients aged 12.

Procalcitonin and Presepsin as Markers of Infectious Respiratory Diseases in Children: A Scoping Review of the Literature.

Introduction: Procalcitonin and presepsin have been suggested to be able to discriminate bacterial and viral infections, also in children. This scoping review aims to better explore the available evidence around the potential role of these biomarkers in the subgroup of children with respiratory infectious diseases.

Methods: We performed a systematic scoping review of studies published until March 2023 in the following bibliographic databases: PubMed, EMBASE, Cochrane and SCOPUS.

Predictors of Urinary Abnormalities in Children Hospitalised for Their First Urinary Tract Infection.

We aimed to investigate if children with their first UTI and a concomitant positive blood culture have a higher risk of abnormalities. We performed a retrospective study of children younger than 18 years of age with their first UTI. Multivariate logistic regression and receiver operating characteristic (ROC) curves were used to evaluate if positive blood cultures are associated with urinary abnormalities.

Bone mineral density and body mass composition measurements in premenopausal anorexic patients: the impact of lean body mass.

Introduction: Evaluating bone density and body composition by dual-energy x-ray absorptiometry (DXA) and analyzing their relationships among young anorexic women in comparison with normal-lean matched controls.

Materials And Methods: In this observational cohort study, 98 normal-underweight young females were enrolled (aged more than 16 and less than 24 years). The study group included 68 anorexic patients and 30 healthy age-matched controls.

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

: Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. Hypercholesterolemia has been described in SMS, and obesity is also commonly found.

Characteristics of Children and Adolescents with Hyperinsulinemia Undergoing Oral Glucose Tolerance Test: A Single-Center Retrospective Observational Study.

The aim of this study was to evaluate a potential correlation between results of the oral glucose tolerance test (OGTT) and the auxological/metabolic parameters in a cohort of overweight patients assessed for suspicion of hyperinsulinism. We analyzed 206 patients, comparing those with insulin peak below (nonhyperinsulinemic) and over 100 uIU/mL (hyperinsulinemic) at the OGTT. We found a significant difference in weight ( 0.

Auxological and Metabolic Parameters of Children Undergoing the Gonadotropin-Releasing Hormone Stimulation Test: Correlations with the Final Diagnosis of Central Precocious Puberty in a Single-Center Study.

Background-Central precocious puberty (CPP) is characterized by clinical, biochemical, and radiological features similar to those of normal puberty, but CPP occurs before the age of eight in girls and before the age of nine in boys, subsequently leading to a reduction in the final body height in adulthood due to premature fusion of growth plates. The diagnosis of CPP is confirmed with a gonadotropin-releasing hormone (GnRH) stimulation test, which can lead to different interpretations because the diagnostic peak levels of luteinizing hormone (LH) can vary. Patients and methods-This was a single-center, retrospective observational study investigating the possible correlation between gonadotropin peaks on the GnRH test and auxological, metabolic, and radiological parameters of patients evaluated for CPP.

Efficacy and safety of growth hormone therapy in children with Noonan syndrome.

Patients with Noonan syndrome typically have a target height <2 standard deviations compared to the general population, and half of the affected adults remain permanently below the 3rd centile for height, though their short stature might result from a multifactorial etiology, not-yet fully understood. The secretion of growth hormone (GH) following the classic GH stimulation tests is often normal, with baseline insulin-like growth factor-1 (IGF-1) levels at the lower normal limits, but patients with Noonan syndrome have also a possible moderate response to GH therapy, leading to a final increased height and substantial improvement in growth rate. Aim of this review was to evaluate both safety and efficacy of GH therapy in children and adolescents with Noonan syndrome, also evaluating as a secondary aim the possible correlations between the underlying genetic mutations and GH responses.