Background/Objectives: Pediatric osteoporosis is a multifactorial condition characterized by impaired bone mineralization and increased fracture risk, particularly vertebral compression fractures. This study aims to evaluate the diverse etiology, diagnostic challenges, and treatment options for pediatric osteoporosis in a cohort of affected children. Methods: We reviewed eleven pediatric patients (aged 5–16 years) diagnosed with vertebral fractures and osteoporosis, who were hospitalized between 2020 and 2024 at the Department of Endocrinology and Metabolic Diseases at PMMH-RI in Lodz. Clinical evaluation included medical history, physical examination, biochemical markers of bone metabolism, and imaging techniques such as dual-energy X-ray absorptiometry (DXA) to determine underlying causes of bone fragility. Results: The cohort presented a broad etiological spectrum, including seven patients with genetic disorders (e.g., mutations in COL1A1, LRP5, SGMS2, and ALPL genes) and secondary osteoporosis due to chronic diseases requiring prolonged glucocorticoid therapy (two patients with Duchenne muscular dystrophy (DMD), one patient with Crohn’s disease) or endocrinological disorders (one patient with Cushing disease). Vertebral fractures were confirmed in all patients, with back pain as the predominant symptom. Low bone mass (BMD Z-score < −2.0) was observed in eight individuals; in others, clinical signs of skeletal fragility were present despite Z-scores above this threshold. Mild biochemical abnormalities included hypercalciuria (3/11 cases) and vitamin D deficiency (6/11 cases). Height adjustment improved BMD interpretation in short-stature patients. Most children received bisphosphonate therapy, supplemented with calcium and vitamin D. In two patients, bisphosphonates were not used due to lack of parental consent or underlying conditions in which such treatment is not recommended. Conclusions: Pediatric osteoporosis requires a multidisciplinary diagnostic and therapeutic approach, integrating clinical, biochemical, and genetic factors. It is a heterogeneous and often underrecognized condition, with vertebral fractures frequently serving as its earliest sign—even in the absence of overt symptoms or low bone mass. This underscores the need for clinical vigilance, as significant skeletal fragility may occur despite normal BMD values. Importantly, pediatric osteoporosis may also impact the attainment of peak bone mass and ultimately affect final adult height. Early diagnosis through thorough assessment, including height-adjusted DXA, and a multidisciplinary approach are essential to ensure timely management and prevent long-term complications.

Background: Recognizing insulin resistance (IR) in children remains challenging due to uncertain IRI-HOMA cut-offs and unclear recommendations for evaluating IR based on OGTT. In our study, we compare the effectiveness of IRI-HOMA and IRI-Belfiore (OGTT-based) in detecting IR and its metabolic complications in children. Methods: The analysis included 553 children who were hospitalized at the Department of Endocrinology and Metabolic Diseases of the Polish Mother’s Memorial Hospital Research Institute (PMMH-RI) in Lodz, Poland, between 2002 and 2018 due to various reasons—of these, 67.5% were girls. All underwent OGTT for glucose and insulin assessment. IR diagnosis relied on IRI-HOMA and IRI-Belfiore. IR based on IRI-HOMA was evaluated using three criteria: (A) >2.5; (B) >2.67 in boys and >2.22 in girls before puberty and >5.22 and >3.82 during puberty, respectively; (C) >95th percentile according to charts for IRI-HOMA in children. Results: Prepubertal children exhibited significantly lower IRI-HOMA and IRI-Belfiore than their pubertal counterparts (p < 0.00005). IRI-HOMA and IRI-Belfiore values positively correlated with age and BMI SDS value (p < 0.000001 for all calculations). As many as 26% to 46.9% of children with normal IRI-HOMA showed elevated IRI-Belfiore, with notably higher levels of triglycerides, a lower HDL cholesterol fraction, and a lower HDL/total cholesterol ratio in this subgroup. Conclusions: A notable proportion of children exhibited elevated IRI-Belfiore levels despite having normal IRI-HOMA values. This suggests the possibility of peripheral IR preceding hepatic IR in children—omitting an OGTT may therefore lead to overlooking cases of IR. Children diagnosed with IR via OGTT displayed significantly poorer lipid profiles compared to those without IR (characterized by normal values in both IRI-HOMA and IRI-Belfiore). This underscores the ability of OGTT-derived IR indices to identify individuals at risk of developing complications associated with obesity and IR before the onset of metabolic syndrome (MS) symptoms. If IR is already detected in children based on fasting glucose and insulin levels (IRI-HOMA), further evaluation may not be warranted, as OGTT results often simply confirm the diagnosis.

Background/Objectives: The skeletal system reaches peak bone mass through modeling and remodeling processes, influenced by environmental, dietary, hormonal, and genetic factors. In children with endocrinopathies, disturbances in bone mass and mineralization may correlate with hormonal levels, but conditions like short stature or obesity can confound DXA results. This study aimed to assess the prevalence of decreased bone mineral density (BMD) in children with endocrine disorders and evaluate the impact of auxological and hormonal abnormalities on BMD. Methods: This study analyzed medical records of 148 children (mean age 11.85 ± 3.34 years); 73 girls and 75 boys). Conditions included obesity (22.9%), short stature (47.9%), precocious puberty (10.1%), and other diagnoses. Clinical data included primary diagnosis, height, body weight, pubertal stage, and serum concentrations of calcium, phosphate, alkaline phosphatase, 25OHD, PTH, osteocalcin, Crosslaps, TSH, fT4, IGF-1, IGF-BP3, cortisol, estradiol, testosterone, and bone age. DXA scans were performed at the total body less head (TBLH) and lumbar spine (Spine) projection. Results: Low bone mass (aBMD Z-score ≤ −2) was found in 34.46% at TBLH and 15.54% at the Spine. After height adjustment (HAZ adjustment), the prevalence of low bone mass decreased to 11.4% at TBLH and 4.1% at the Spine. In the short stature group, the normalization of Z-scores for height significantly reduced abnormal results. A positive correlation was found between DXA parameters and age, height standard deviation score (HSDS), BMI SDS, estradiol, testosterone, IGF-1, and IGF-BP3. A negative correlation existed between vitamin D and DXA parameters. Bone turnover markers (osteocalcin and Crosslaps) also negatively affected bone mass. No significant correlations were found with PTH, TSH, fT4, or cortisol. In children with growth retardation, lower aBMD_HAZ Z-scores were observed in those with decreased IGF-1. Positive correlations existed between BMI SDS, IGF-1, and adjusted aBMD Z-scores. Conclusions: Children with endocrine disorders, especially those with short stature, are at risk for bone mineralization disorders. Height normalization is crucial for accurate DXA interpretation and avoiding overdiagnosis. Positive influences on bone mass include height, BMI, IGF-1, estradiol, and testosterone, while negative factors include bone turnover markers and low vitamin D.

Cushing’s disease (CD) is an extremely rare diagnosis in children. In this report, we present the case of an almost 16-year-old, short and thin boy with CD, the first symptoms of which were spinal pain and vertebral fractures as a result of osteoporosis. In light of his growth retardation and short stature, the boy underwent diagnostics, which excluded growth hormone (GH) deficiency, hypothyroidism and celiac disease. Finally, based on cortisol profile results, dexamethasone suppression tests and bilateral sampling during catheterization of the inferior petrosal sinuses, CD was diagnosed.

Background/Objectives: Children with autoimmune gastrointestinal diseases are at increased risk of impaired bone health due to chronic inflammation, nutritional deficiencies, growth disturbances, and treatment-related factors. While dual-energy X-ray absorptiometry (DXA) is the standard method for assessing bone mineral density (BMD), it provides limited information on bone microarchitecture. The trabecular bone score (TBS), derived from lumbar spine DXA images, has emerged as a complementary marker of bone quality. This study aimed to evaluate bone mass and TBS in children with autoimmune gastrointestinal diseases and to assess the clinical utility of TBS in comparison with children with a history of fractures and healthy controls. Methods: This study included 152 children aged 5–18 years: 45 with autoimmune gastrointestinal diseases (Crohn’s disease, ulcerative colitis, or celiac disease), 37 with a history of fractures, and 70 healthy controls. Anthropometric measurements, serum 25-hydroxyvitamin D [25(OH)D] concentrations, DXA-derived parameters, and TBS values were analyzed. Bone mineral density was assessed at the lumbar spine and total body less head (TBLH), with additional adjustment for height-for-age Z-score (HAZ). TBS values were expressed as sex- and pubertal stage-adjusted Z-scores. Results: Low bone mass (aBMD_{for age} Z-score ≤ −2) was observed in 30.3% of participants at TBLH and 11.1% at the lumbar spine, whereas a TBS Z-score ≤ −2 was identified in 5.2% of children. No significant differences in TBS or TBS Z-scores were found among the study groups. In multivariable analysis, fracture history was independently associated with lower absolute TBS, whereas no independent predictors of TBS Z-score were identified. Children with fractures had significantly lower HAZ-adjusted lumbar spine aBMD Z-scores than children with autoimmune gastrointestinal diseases and controls. TBS Z-scores correlated positively with age-adjusted and HAZ-adjusted aBMD values but showed no association with BMI or serum 25(OH)D concentrations. Conclusions: In this cross-sectional study, TBS did not distinguish children with autoimmune gastrointestinal diseases from those with fractures or healthy controls in the unadjusted analyses. Although TBS was associated with selected DXA-derived measures of bone mineral density and fracture history was independently associated with lower absolute TBS after multivariable adjustment, no independent predictors of TBS Z-score were identified. These findings suggest that the clinical role of TBS in the assessment of pediatric bone health remains to be established. Larger prospective studies are crucial to determine whether TBS provides clinically meaningful information complementary to conventional DXA for the assessment of skeletal health and fracture risk in children. Larger prospective studies are needed to clarify the clinical value of TBS for fracture risk assessment in pediatric autoimmune gastrointestinal diseases.

Background/Objectives: Noonan syndrome (NS) is characterized by marked phenotypic variability. Although the classical phenotype includes short stature, craniofacial dysmorphism, skeletal abnormalities, and congenital heart defects, some patients present with subtle or atypical manifestations, making clinical recognition challenging. Methods: This retrospective case series included six pediatric patients with molecularly confirmed NS managed at the Department of Endocrinology and Metabolic Diseases, Polish Mother’s Memorial Hospital-Research Institute, Lodz, Poland. Medical records were reviewed for auxological data, phenotypic features, endocrine and skeletal assessment, cardiovascular findings, associated conditions, and multidisciplinary management. The aim of this study was to characterize the phenotypic diversity of NS in pediatric endocrine practice, with particular emphasis on growth patterns, endocrine and skeletal manifestations, and atypical clinical presentations. Results: The six patients demonstrated markedly heterogeneous clinical presentations. One boy exhibited the classical phenotype with severe short stature and pulmonary valve stenosis, whereas a girl with typical NS features maintained relatively preserved growth around the 3rd percentile. Another patient presented with progressive resorption of permanent incisor roots and a coexisting pathogenic NBN variant. A boy with LZTR1-associated NS and Klinefelter syndrome (47,XXY) demonstrated a blended phenotype and height between the 25th and 50th percentiles. Two girls lacked characteristic NS dysmorphism and presented predominantly with growth impairment, accompanied by markedly low bone mass in one case and a prolonged diagnostic pathway in the other. GH deficiency was not identified in the evaluated patients, and rhGH therapy was initiated in three patients. Conclusions: NS encompasses a broad clinical spectrum, ranging from classical phenotypes to atypical presentations dominated by growth, skeletal, or dental abnormalities. Neither the absence of characteristic dysmorphism nor relatively preserved growth excludes the diagnosis, while coexisting genetic conditions may further modify the phenotype. Awareness of this heterogeneity is essential for appropriate recognition and individualized multidisciplinary care. In selected children with otherwise unexplained growth or atypical clinical findings, consideration of NS and genetic evaluation may help establish a unifying diagnosis and potentially shorten the diagnostic pathway.