Search Results (597)

Nutrient restriction (NR) increases small-for-gestational-age (SGA) offspring; however, some NR ewes deliver Non-SGA lambs. We evaluated whether fetal biometry and Doppler indices could distinguish divergent fetal growth trajectories. Ninety-five single-pregnant Corriedale ewes were assigned to NR grazing (n = 72) or supplemented Controls (n = 23) from gestational day (GD) 70 to 140. Fetal biparietal diameter (BPD), femur length (FL), thoracic height (TH), umbilical cord diameter (UCD), and resistance (RI) and pulsatility (PI) indices in umbilical (UA), cotyledonary (CA), and uterine (UtA) arteries were assessed at several GDs. Offspring within NR group was stratified by birth weight (BW) quartiles as SGA (n = 18) or Non-SGA (n = 18). At birth, BW differed (p < 0.05) among Control (4.95 ± 0.10 kg), Non-SGA (5.33 ± 0.06 kg), and SGA (3.79 ± 0.11 kg), with reduced BPD and FL in SGA lambs. Prenatal biometry did not differ. UA-RI at GD125 was higher in SGA (p < 0.005) and associated with BW (R² = 0.15; p < 0.001). UtA indices were lower in SGA at GD110 and GD125 (p < 0.05) but weakly associated with BW (R² ≤ 0.08). Doppler differences were detected before measurable growth divergence but have modest predictive value. Full article

Backgroud and Objectives: To evaluate conventional Doppler indices and the novel middle cerebral artery (MCA) diastolic deceleration area (DDA) in pregnancies complicated by gestational diabetes mellitus (GDM), and to explore their associations with perinatal outcomes. Prospective case–control study conducted at a tertiary referral perinatology center. Materials and Methods: The study included 83 women with GDM and 92 healthy controls. Standard fetal biometric and Doppler parameters—umbilical artery, MCA, ductus venosus, cerebroplacental ratio, and umbilicocerebral ratio—were assessed, alongside calculation of MCA DDA. Perinatal outcomes were recorded. Results: Most conventional Doppler indices did not differ between groups, except for lower MCA dicrotic notch velocity and higher ductus venosus time-averaged maximum velocity in the GDM group. MCA DDA values did not differ significantly between GDM and control groups (6.67 [5.02–8.20] vs. 7.05 [5.21–8.39] cm·s, p = 0.444) and showed no difference between insulin- and diet-controlled subgroups (p > 0.05). MCA DDA showed significant correlations with gestational age, MCA peak systolic velocity, and birth weight. However, after adjustment for potential confounders, gestational age remained the only independent determinant of MCA DDA. The multivariable analysis evaluating composite adverse neonatal outcomes was limited by the small number of adverse events (n = 14). Conclusions: MCA DDA did not differ between GDM and control pregnancies and primarily reflected gestational age-related physiological variation rather than diabetes specific hemodynamic changes. However, its relationship with adverse neonatal outcomes remains uncertain and requires further investigation in larger prospective studies. Full article

Background/Objective: Bedside ultrasonographic measurement of optic nerve sheath diameter (ONSD) has increasingly been used as a non-invasive method for evaluating intracranial dynamics. In preterm infants, interpretation of these measurements is complicated by the strong influence of gestational maturity. The objective of this study was to examine the relationship between ONSD and respiratory support in preterm infants and to determine whether this relationship reflects an independent physiological effect or is mainly related to maturational confounding. Methods: This retrospective single-center study included 110 preterm infants. ONSD measurements were obtained at the bedside using a standardized ultrasonographic technique. Infants were categorized according to the need for invasive mechanical ventilation. Associations between ONSD, respiratory parameters, and clinical variables were evaluated with correlation analyses and multivariable logistic regression after adjustment for gestational age and birth weight. Results: ONSD values were lower in infants who required invasive mechanical ventilation and who also had lower gestational age and birth weight. After adjustment for these variables, the association between ONSD and invasive ventilation became less pronounced. Although ONSD showed a moderate unadjusted correlation with SpO₂, no consistent independent association with respiratory parameters remained after adjustment for maturational factors. The difference in ONSD between groups was small (0.48 mm) and within the expected range of measurement variability. Conclusions: In this cohort, differences in ONSD according to respiratory support appeared to be more closely related to maturational status than to respiratory disease severity. ONSD measurements in preterm infants should therefore be interpreted within the clinical context of prematurity rather than used alone as indicators of respiratory status. Full article

Background/Objectives: Peripheral(-muscle) oxygenation assessed with near-infrared spectroscopy might serve as an early marker of infection/inflammation; however, evidence of its clinical relevance is lacking so far. This study aimed to develop a peripheral(-muscle) oxygenation and perfusion score (POP-Score) using the peripheral(-muscle) tissue oxygenation index (pTOI) combined with non-invasive monitoring parameters within six hours after birth. The POP-Score was designed to explore associations with elevated C-reactive protein (CRP), as an early infection/inflammation marker, in term and late-preterm neonates. Methods: Secondary outcome parameters from a prospective observational study were analysed. Included neonates weighed ≥2000 g with respiratory distress, excluding those with umbilical artery pH < 7.20. Neonates with CRP ≥ 20 mg/L were 1:4-matched to those with CRP < 20 mg/L by gestational age (±2 weeks). For pTOI measurements, a sensor was placed for a duration of 30 s, followed by four further reapplications of the sensor, using the NIRO200NX within the first six hours after birth. The POP-Score was established using the following formula: (pTOI [%] × subcutaneous fat layer thickness [cm] × heart rate [bpm])/(arterial oxygen saturation [%] × systolic blood pressure [mmHg]). POP-Score was correlated with the highest CRP within 48 h. Results: Thirty neonates were included (median gestational age: 39.1 weeks [CRP < 20 mg/L group] vs. 37.3 weeks [CRP ≥ 20 mg/L group], p = 0.299; median birth weight: 3561 g vs. 3260 g, p = 0.058, respectively). Median POP-Scores were significantly different: 1.11 (CRP ≥ 20 mg/L) vs. 0.85 (CRP < 20 mg/L), p < 0.001. POP-Score correlated positively with CRP (r = 0.341; p = 0.070). In this small exploratory cohort, a POP-Score cut-off of 1.00 was associated with CRP ≥ 20 mg/L (100% sensitivity and 87% specificity); however, these estimates are uncertain due to the limited sample size. Conclusions: This study is the first to describe a new score for peripheral(-muscle) oxygenation and perfusion (POP-Score), which may represent a potential approach for early, non-invasive assessment but requires validation in adequately powered studies before any clinical application. Trial Registration: Clinicaltrials.gov, Trial registration number: NCT04818762, Date of Registration: 26 March 2021. Full article

Background: Treatment with recombinant human growth hormone (rhGH) is approved for children born small for gestational age (SGA) who fail to show postnatal catch-up growth; however, optimizing its efficacy remains a challenge. Aim: to evaluate the impact of rhGH therapy on growth trajectory (GT) and adult height (AH) in SGA children and to identify factors influencing height gain (HG). Methods: A total of 49 SGA children (24 males, 25 females) without postnatal growth recovery and treated with rhGH were enrolled. Clinical and anthropometric data were collected at treatment initiation (T0), after 1 (T1) and 2 years (T2) of therapy, at pubertal onset (P0), during the first (P1) and second year (P2) of puberty, and at attainment of AH. Parameters included age, bone age, H, weight, BMI (all expressed as SDS), HG, and the difference between H and target height (Δ H-TH). Results: a significant increase in HG at all evaluated stages was observed (p < 0.05). The H–TH difference progressively decreased from T0, particularly until the first two years of puberty. Nevertheless, mean AH was −1.75 ± 0.63 SDS, and it was found to fall within the TH range in 86% of cases. Univariate and multivariate regression analysis revealed that age and H at T0 were independent predictors of HG. Conclusions: rhGH treatment has a positive impact on GT in children born SGA. Pubertal growth has a limited contribution in influencing AH of these patients. H and timing of treatment initiation significantly influence HG in SGA children. Early selection of patients for rhGH therapy could further improve their GT. Full article

β-thalassemia minor, often referred to as the β-thalassemia trait, is among the most prevalent hemoglobinopathies globally, impacting around 80–90 million carriers, with a prevalence of up to 15% among Mediterranean, Middle Eastern, and Asian populations. Although traditionally regarded as clinically benign, pregnancy imposes hematologic and metabolic stressors that may unmask latent vulnerabilities. This review combines the latest data and findings about the pathophysiology of β-thalassemia minor during pregnancy, its short-term outcomes on the mother and fetus, and its long-term impact on the child, as well as management techniques. A narrative review of PubMed-indexed studies (2000–2025) was conducted, including cohort and case–control studies, systematic reviews, meta-analyses, and international guidelines. Outcomes were organized by theme, and quantitative findings (prevalence, relative risks, odds ratios) were combined when available. Anemia is a common health issue for mothers. Literature mentions that the pooled incidence is between 30% and 40% during the third trimester, with ~5%of carriers needing a blood transfusion (mainly in iron-deficient or baseline Hb 6–8 g/dL cases). Meta-analyses have shown elevated risks of pre-eclampsia (odds ratio (OR) ~ 1.4, 95% confidence interval (CI) 1.1–1.8) and postpartum hemorrhage (PPH); however, estimates differ by region. The odds of preterm delivery (OR ~ 1.4), small-for-gestational-age (SGA) (OR ~ 1.5), and low birth weight (LBW) are slightly increased for carriers, and neonatal intensive care unit (NICU) admission rates are also higher for carriers. However, the risk of stillbirth is not always increased. The usual approach is iron supplementation guided by ferritin levels to prevent overload, personalized transfusion thresholds, and regular folate support. There is not much evidence for long-term consequences for children of carrier mothers since no research has followed more than 200 children born to carrier mothers into adulthood. However, maternal anemia is linked to slower growth, neurodevelopmental issues, and a higher risk of cardiometabolic problems in larger groups of pregnant women. However, maternal anemia is associated with slower growth, neurodevelopment, and higher cardiometabolic risk in larger groups of pregnant women. β-thalassemia minor during pregnancy usually has a mild, though significant, impact. While most pregnancies proceed without complications, this condition is associated with a significantly higher prevalence of anemia and other adverse postnatal outcomes. Consequently, the implementation of risk-stratified monitoring, smart supplementation, and standardized management protocols is essential. Prospective registries, mechanistic placental research, and long-term offspring cohorts are necessary to better understand long-term trends. Full article

Background: Adverse pregnancy outcomes such as preeclampsia (PE), preterm birth, low birth weight (LBW), small for gestational age (SGA), and stillbirth are major contributors to maternal and neonatal morbidity and mortality. Elevated maternal homocysteine (Hcy) levels, influenced by genetic, dietary, and lifestyle factors, have been increasingly associated with placental dysfunction and adverse pregnancy outcomes. This review aims to evaluate the link between hyperhomocysteinemia and pregnancy complications to inform clinical practice. Methods: A comprehensive search of PubMed, Scopus, Web of Science, and Cochrane Central Library was conducted up to December 2024. Observational studies assessing maternal Hcy levels in relation to pregnancy complications were included. Heterogeneity was measured using the I² statistic, and a random-effects model using the DerSimonian–Laird method was applied to account for study variability. Effect sizes were reported as odds ratios (ORs) with 95% confidence intervals (CIs). Results: Thirteen studies were included in this meta-analysis. Elevated maternal Hcy was significantly associated with: PE (OR: 2.49; 95% CI: 1.41–4.40; I² = 96.03%; n = 9), preterm birth (OR: 4.01; 95% CI: 1.84–8.72; I² = 91.08%; n = 6), fetal loss (OR: 1.76; 95% CI: 1.22–2.52; I² = 41.47%; n = 6), SGA (OR: 1.69; 95% CI: 1.35–2.11; I² = 0.00%; n = 3), and LBW (OR: 2.46; 95% CI: 1.37–4.43; I² = 77.71%; n = 3). Conclusions: This review highlights a significant association between elevated maternal Hcy levels and various pregnancy complications. However, given the substantial heterogeneity and reliance on observational evidence, these findings should be interpreted with caution. Future well-designed prospective cohort studies with standardized definitions of hyperhomocysteinemia, consistent timing of exposure assessment across pregnancy trimesters, and adjustment for key confounders are needed to better clarify these associations and underlying mechanisms. Full article

Background/Objectives: Glucagon-like peptide-1 receptor agonists (GLP-1RAs) are increasingly used for the management of obesity and type 2 diabetes, particularly among women of reproductive age. Emerging evidence suggests potential effects on ovulation, fertility, and pregnancy outcomes. This narrative review aims to synthesize current evidence on the reproductive safety of GLP-1RAs, with a focus on their implications for conception, unintended pregnancy, and maternal–fetal outcomes. Methods: A narrative literature review was conducted using PubMed and relevant bibliographic sources to identify studies published between 2020 and 2025. The search included clinical trials, observational studies, registry data, case reports, and selected preclinical evidence. Studies addressing reproductive outcomes, including ovulation, fertility, pregnancy exposure, and fetal safety, were included. Evidence was synthesized descriptively in accordance with recommended approaches for narrative reviews. Results: Available evidence indicates that GLP-1RAs may improve ovulatory function and menstrual regularity, particularly in women with obesity or polycystic ovary syndrome, potentially increasing the likelihood of conception. However, human data on pregnancy exposure remain limited. While current evidence does not consistently demonstrate a strong teratogenic signal, findings are based on small samples and heterogeneous study designs. Concerns persist regarding unintended pregnancies due to improved fertility and the absence of robust safety data during early gestation. Conclusions: GLP-1RAs present a complex clinical scenario in women of reproductive age, with potential benefits for metabolic and reproductive health but uncertain safety during pregnancy. Clinicians should exercise caution, provide appropriate contraceptive counseling, and carefully weigh the risks and benefits when prescribing these agents. Further large-scale, prospective studies are needed to clarify reproductive safety and inform evidence-based clinical guidelines. Full article

Background: Short-term morbidities and mortality decreased significantly in the past decade at preterm born < 25 weeks of gestation. Severe lifelong morbidities affect an important part of these patients. Objective: to investigate the in-hospital morbidity, mortality, and short-term complications of preterm neonates born ≤25 weeks of gestation. Methods: A prospective longitudinal cohort study was conducted in children born 2021–2024, ≤25 weeks of gestation, admitted to a 3rd-level unit, and care till discharge. Pregnancy complications’ effect on neonatal evolution was analyzed, six main in-hospital morbidities specific for preterm birth and other aggravating circumstances, with a possible effect on the evolution were analyzed, as follows: inflammatory syndrome, early pulmonary or digestive hemorrhages, and early inotropic support. The neurological development in the first year of life was analyzed through theparticipation of premature infants in the follow-up program after discharge. Results: Forty-nine premature infants were enrolled, with a mean gestational age of 24.37 ± 0.76 weeks and an average weight of 665 ± 143 g. Most newborns required intubation at birth (42/49), and 33/49 received 2-dose surfactant therapy postnatally. NEC was present in 26.5% of the group, being more common in patients with inflammatory syndrome—increase in procalcitonin (PCT), and those who received a higher number of blood transfusions. The BPD and ROP, as well as the severity of the latter, correlated with the oxygen requirement on the 28th day of life. BPD was more common in infants associated with PDA requiring combination treatment. ROP increased with the number of transfusions required by patients. At the follow-up at the first timepoint evaluation, were 51% of the study group, and 30.6% of them had normal neurological development. At 12 months of age, however, the neurological examination was normal in only three patients (23.08%) but only 36.5% of the study group attended the follow-up. Neurodevelopmental disorders were present in 10 of the patients, one with spastic diplegia. Conclusions: In the hospital, the morbidity and survival rate of the group was like other studies. The small number of follow-up participants does not allow the generalization of the data, but as far as neurological development is concerned, it is like that of other studies. Full article

Objective: This study compared fetal adrenal gland ultrasound parameters between pregnancies complicated by fetal growth restriction (FGR) diagnosed according to Delphi consensus criteria and gestational-age-matched normally grown controls, and interpreted their apparent discriminatory performance cautiously. Methods: This prospective single-center case–control study with a cross-sectional ultrasound assessment enrolled 60 singleton pregnancies (30 FGR, 30 controls) between 24 and 41 weeks’ gestation. Controls were recruited contemporaneously from the same unit and had normal fetal biometry and Doppler findings. All examinations were performed using a Voluson E8 system by a single experienced operator; operator blinding to group status was not feasible in routine clinical practice. Standard fetal biometry and Doppler indices (umbilical artery [UA] PI, middle cerebral artery [MCA] PI, uterine artery [UtA] PI) were recorded and the cerebroplacental ratio (CPR) was calculated. Fetal adrenal assessment included the total adrenal gland volume, fetal zone (FZ) width, and middle adrenal artery (MAA) Doppler PI. Results: Maternal age, body mass index, and gestational age at scan were similar between groups (p > 0.05). Compared with controls, the FGR group had higher UA PI and UtA PI and lower MCA PI and CPR (all p < 0.001). Absolute adrenal gland volume was lower in FGR (0.46 ± 0.03 vs. 0.68 ± 0.04 cm³; mean difference −0.22 cm³, 95% CI −0.24 to −0.20; p < 0.001), and FZ width was smaller (median 4.70 vs. 6.55 mm; Hodges–Lehmann shift −1.80 mm, 95% CI −2.00 to −1.70; p < 0.001). MAA PI was higher in FGR (2.44 ± 0.14 vs. 1.79 ± 0.12; mean difference 0.65, 95% CI 0.58–0.72; p < 0.001). In this selected case–control dataset, adrenal volume, FZ width, and MAA PI each showed apparent complete separation (empirical AUC = 1.00); however, these findings should be interpreted cautiously because absolute adrenal measures were not adjusted for fetal size and such performance may reflect spectrum effects in a relatively small sample. Conclusions: In pregnancies with Delphi-defined FGR, absolute fetal adrenal volume and fetal zone width were lower, and MAA PI was higher than in controls. These findings should be considered hypothesis-generating and require external validation in larger multicenter cohorts using standardized and size-adjusted measurement approaches before clinical implementation. Full article

Introduction: The prevalence of maternal arrhythmias is increasing with advanced maternal age. Current evidence regarding the association between maternal arrhythmias and pregnancy outcomes remains inconsistent. This meta-analysis aimed to define the associations between adverse pregnancy outcomes and specific maternal arrhythmias. Methods: We conducted a systematic review and meta-analysis using the PRISMA guidelines. We searched MEDLINE, Scopus, and Cochrane on the 4th of November 2025 for cohort and case–control studies comparing pregnant women with cardiac arrhythmias to those without. Primary outcomes included preeclampsia, stillbirth, preterm delivery, and small-for-gestational-age (SGA) neonates. Data were pooled using random-effects models with subgroup analyses by arrhythmia type. Results: Nineteen studies were included. Maternal arrhythmias were associated with a significantly increased risk of preeclampsia (RR = 1.46, 95% CI [1.10, 1.93]), preterm delivery (RR = 1.39, 95% CI [1.12, 1.72]), and stillbirth (RR = 2.09, 95% CI [1.11, 3.91]). Ventricular tachycardia/fibrillation was linked to the most severe outcomes, including a four-fold increase in stillbirth (RR = 4.20, 95% CI [3.75, 4.71]) and a fifteen-fold increase in neonatal death (RR = 15.47, 95% CI [3.45, 69.45]). Supraventricular tachycardia was independently associated with preeclampsia (aRR = 1.14, 95% CI [1.04, 1.24]), preterm delivery (aRR = 1.76, 95% CI [1.39, 2.23]), and SGA neonates (aRR = 5.93, 95% CI [1.23, 28.55]). Risks were notably higher in the general population compared to women with known heart disease, supporting an “unmasking” of occult vulnerability. Conclusions: Maternal arrhythmias are associated with distinct fetal risks beyond maternal hemodynamics. Ventricular tachycardia was associated with severe outcomes, likely reflecting acute compromise, while supraventricular tachycardia was linked to signs of chronic vascular dysfunction. These findings suggest arrhythmias as possible sentinels for placental insufficiency, necessitating enhanced surveillance. Full article

Objective: This study aimed to investigate the effect of hydroxychloroquine (HCQ) application during pregnancy on perinatal outcomes in cases of combined non-specific auto-antibodies. Methods: A retrospective cohort study was carried out. Cases of pregnancy combined with isolated auto-antibody positivity at Peking University Third Hospital from 2016 to 2020 were included. HCQ use during pregnancy was defined as the primary exposure. The impact of HCQ on perinatal outcomes was explored through univariate and multivariate analyses, and stratified analyses of its effects were conducted according to prophylactic anticoagulation use and medication duration. Results: A total of 338 cases were included, accounting for 39.62% (338/853) of pregnancies with autoimmune abnormalities during the same period. Univariate analysis of the overall population showed that HCQ use during pregnancy was associated with a significantly lower incidence of pre-eclampsia (9.13% vs. 25.53%), early-onset pre-eclampsia (1.37% vs. 10.08%), and small for gestational age (SGA) (12.07% vs. 22.88%). In the subgroup without anticoagulation, both multivariate and univariate analyses revealed that HCQ was associated with markedly lower rates of pre-eclampsia (0% vs. 36.67%, p = 0.004), early-onset pre-eclampsia (0% vs. 15.00%, p = 0.046), and SGA (0% vs. 28.33%, p = 0.006), and a significantly longer pregnancy gestational age with a higher birth weight. The timing of HCQ initiation showed no significant impact on adverse pregnancy outcomes. Conclusions: HCQ use during pregnancy is associated with favorable perinatal outcomes among women with isolated non-specific auto-antibody positivity, especially in those not receiving anticoagulation. Strengthened clinical evaluation and careful risk–benefit assessment are warranted to avoid unnecessary interventions. Full article

The slaughter of pregnant pigs raises legal, ethical, and animal welfare concerns in pig production. Relevant information for this overview was compiled from research identified through searches of PubMed, Web of Science, and Google Scholar using defined combinations of search terms related to pregnancy, slaughter of sows, fetal age, gestational stage, and prevalence. No lower time limit for publication year was predefined; publications published up to 2025 were considered. Regulations vary widely between countries, with some specifying clear restrictions for animals in late gestation, while many provide no stage-specific limits. Reasons for culling include economic pressures, management practices such as unrecognized pregnancies and mixed-sex housing, and health or welfare issues. In Europe, the prevalence of sows being pregnant at slaughter ranges from 1.5% to 13%, with most fetuses being in the first or second trimester and a small proportion in the final trimester. In Africa, prevalence is higher and more variable, ranging from 9% to 36.14%, with a larger share of fetuses in mid to late gestation. Data from America is limited, reporting prevalences between 5.9% and 13.5%. The comparability of prevalence estimates is limited due to high heterogeneity and differences in study design. Fetal age can be assessed using metric or non-metric methods, applied either postmortem or in vivo (for example, ultrasonography). Variations in study design, methodology, and population characteristics restrict direct comparability. For legal enforcement and veterinary inspection, reliable fetal age assessment is important, and updated fetometric reference values could contribute to a more consistent interpretation of fetal age. Full article

Objective: Systemic lupus erythematosus (SLE), Sjögren syndrome (SS) and antiphospholipid syndrome (APS) are common autoimmune conditions in child-bearing aged women, but their influence on pregnancy and assisted reproductive outcomes remain controversial. We aimed to perform an umbrella review to summarize the current evidence to provide a reference for clinicians and future research. Methods: PubMed, Embase (Ovid) and Cochrane database were searched (inception to April 2025) for relevant publications. Study selection, data extraction, quality evaluation, evidence grading and data synthesis were completed independently by two authors. Odds ratio, relative risk or standardized mean difference with 95% confidence intervals were calculated. Results: Fourteen articles (51 meta-analyses) were included, to report the associations of SLE, primary SS (pSS), antiphospholipud antibodies (aPLs), primary APS (pAPS) and 6 maternal/8 fetal/5 assisted reproductive outcomes. SLE and pAPS significantly increased the risks of spontaneous abortion, total fetal loss, pregnancy-induced hypertension, premature delivery, small for gestational age, neonatal death and neonatal intensive care unit. SLE also decreased anti-Müllerian hormone level and significantly increased the risks of pre-eclampsia (PE), stillbirth, low birth weight (LBW) and neonatal one minute Apgar < 7. pSS significantly increased spontaneous abortion and LBW risks. Positive aPLs significantly increased the risk of miscarriage rate in assisted reproductive techenology (ART) and were also associated with total fetal loss, PE, intrauterine growth retardation and placental abruption. Conclusions: This review offers a thorough overview of the current evidence linking SLE, SS and APS to pregnancy and assisted reproductive outcomes. It identifies existing gaps and proposes future research directions. Full article

Background: Genetic causes of growth failure should be suspected in patients born small for gestational age (SGA) who fail to show postnatal catch-up growth, present with severe short stature (SS), and exhibit a poor or absent response to growth hormone (rhGH) therapy. Mutations in the insulin-like growth factor 1 receptor (IGF1R) gene are associated with impaired growth, intrauterine growth restriction (IUGR), low birth weight and/or length, and postnatal SS. Case Description: A 9-year-old boy, born SGA for birth length, was evaluated for severe SS. Common causes of SS were excluded. At 9 years and 7 months of age, his height was 112.6 cm (−3.99 SDS), weight 18 kg (−3.79 SDS), and BMI 14.2 kg/m² (−1.8 SDS); pubertal development was Tanner stage 1. The target height was 158 cm (−2.62 SDS). Bone age was delayed by approximately one year compared with chronological age. Serum IGF-1 levels were within the upper-normal range for age. GH therapy (0.035 mg/kg/day) was initiated due to the lack of catch-up growth in an SGA subject. After three years of treatment, the height gain was only 0.5 SDS. IGF-1 levels showed a transient treatment-related increase, followed by persistent normalization during ongoing therapy. Next-generation sequencing (NGS) analysis identified novel heterozygous paternal nonsense variant in the IGF1R gene: c.3498C>G (p.Tyr1166Ter). At 12 years of age, impaired fasting glucose and reduced glucose tolerance were detected; consequently, it was decided to discontinue rhGH therapy, also in light of the IGF1R mutation and the lack of height recovery. Conclusions: This case underlines the critical role of genetic testing in the evaluation of patients born SGA. The coexistence of SGA status and an IGF1R gene mutation may provide a clear explanation for both the poor response to rhGH therapy and the increased risk of alterations in glucose metabolism. An extensive narrative review of the literature on growth outcomes and glucose metabolism abnormalities during GH treatment in SGA patients carrying IGF1R variants was also performed. Full article