Context There are only a few nationwide studies on boys with central precocious puberty (CPP) and the last Italian study is a case series of 45 boys that dates back to 2000. Objective We aimed to evaluate the causes of CPP in boys diagnosed during the last 2 decades in Italy and the relative frequency of forms with associated central nervous system (CNS) abnormalities on magnetic resonance imaging (MRI) compared to idiopathic ones. Methods We performed a national multicenter retrospective study collecting data from 193 otherwise normal healthy boys with a diagnosis of CPP. Based on MRI findings, the patients were divided into: Group 1, no CNS abnormalities; Group 2, mild abnormalities (incidental findings) unrelated to CPP; and Group 3, causal pathological CNS abnormalities. Results The MRI findings show normal findings in 86%, mild abnormalities (incidental findings) in 8.3%, and causal pathological CNS abnormalities in 5.7% of the cases. In Group 3, we found a higher proportion of patients with chronological age at diagnosis < 7 years (P = .00001) and body mass index greater than +2 SDS (P < .01). Gonadotropin-releasing hormone analogue therapy was started in 183/193 subjects. The final height appeared in the range of the target height in all groups and in 9 patients in whom the therapy was not started. Conclusion In our study on a large nationwide cohort of boys referred for precocious puberty signs, the percentage of forms associated with CNS abnormalities was one of the lowest reported in the literature.

Background: Recombinant human growth hormone (rhGH) is approved in Europe as a treatment for short children born small for gestational age (SGA) since 2003. However, no study evaluated the prevalence of SGA children with short stature who qualify for rhGH in Europe so far. This study aimed to investigate in an Italian population the prevalence of children born SGA, of short stature in children born SGA, and of SGA children who qualify for rhGH treatment at 4 years of age.Methods: We conducted a population-based study on primary care pediatricians’ databases in Trieste, Italy. Data was collected on 3769 children born between 2004 and 2014. SGA was defined as birth weight and/or birth length ≤ − 2 SDS. Data on height and weight were registered at the closest well-being visit to 1, 2, 3, 4 years of age. Short stature was defined as height ≤ − 2 SDS. Short children born SGA who qualify for rhGH treatment were identified according to Note AIFA #39 criteria (age ≥ 4 years; height ≤ − 2.5 SDS; growth velocity < 50th percentile).Results: Full data at birth were available for 3250 children. The SGA prevalence was 3.6% (0.8% SGA for weight, 2.2% SGA for length, 0.6% SGA for both weight and length). The prevalence of short stature among SGA children was 9% at 1 year of age, 6% at 2 years (significantly higher in preterm in the first 2 years), 4% at 3 years, 3% at 4 years (all born at term). At 4 years of age, median height SDS was − 0.52. One child born SGA was eligible for GH treatment (0.8% among SGA children).Conclusions: The prevalence in a general pediatric population of children born SGA who qualify for GH treatment was 1:3250. Although the prevalence of SGA in our population was similar to previous studies, catch-up growth was recorded earlier in our sample compared to previous reports, and term babies had late catch-up. Height SDS of children born SGA at 4 years of age was lower than expected (− 0.52 SDS).

Long-acting growth hormones (LAGHs) represent a significant advancement in the treatment of pediatric GH deficiency, offering an alternative to daily recombinant human GH (rhGH) therapy. Traditional rhGH treatments, although effective, require daily injections, often leading to poor adherence due to the frequency of dosing, injection pain, and difficulties with storage and travel. In contrast, LAGHs, such as somatrogon, somapacitan, and lonapegsomatropin, are designed for once-weekly administration, improving patient compliance and quality of life. LAGHs have demonstrated non-inferiority to daily rhGHs in phase 3 clinical trials, showing similar efficacy in terms of growth velocity and safety profiles. Despite these advantages, concerns remain regarding the altered pharmacodynamics of LAGHs such as the lack of pulsatile secretion and potential for antibody formation. Although the overall safety of LAGHs has been confirmed, side effects, such as lipoatrophy at the injection site, may occur, especially with PEGylated formulations. Guidelines for prescribing LAGHs are currently evolving. LAGHs are not yet approved for other conditions traditionally treated with rhGHs, such as Turner or Noonan syndrome. Pediatric endocrinologists should carefully consider which patient groups would benefit most from this therapy, particularly individuals at risk of poor adherence to daily injections such as patients undergoing multidrug therapy, patients with needle phobia or behavioral disorders, very young children, adolescents, patients with separated parents, families that travel frequently, or children involved in activities such as scouting. LAGHs present an opportunity to enhance therapeutic outcomes and adherence, but careful patient selection remains critical to maximize their potential benefits.

Aims: Italy is the first country to implement a nationwide Type 1 Diabetes (T1D) screening program aimed at reducing cases of diabetic ketoacidosis and potentially delaying disease progression through early interventions. This study assesses the knowledge, perceptions, and willingness of family pediatricians (FPs) to participate in this program. Methods: An anonymous online survey was conducted among 113 FPs in the Friuli Venezia Giulia region, an area not included in the initial pilot study. The survey evaluated their knowledge, readiness, and concerns regarding the screening program. Results: Of the 62 respondents (55% response rate), 84% expressed a willingness to participate in the screening program, although most reported limited knowledge about it. The key concerns included family anxiety, identifying individuals at risk of diabetes, and uncertainty regarding follow-up procedures. While FPs acknowledged the potential benefits of reducing ketoacidosis, 75% emphasized the need for more training and support. Conclusions: While FPs are largely willing to participate in the T1D screening program, significant gaps in knowledge and preparedness remain. Addressing these gaps through comprehensive education and clear followup protocols is crucial for the successful nationwide implementation of the program in 2025.

Introduction: Girls with early thelarche may show an intermediate clinical picture between isolated premature thelarche (PT) and central precocious puberty (CPP), defined as “thelarche variant” (TV), characterized by an FSH-predominant response, although a univocal definition is lacking.Methods: Retrospective analysis on 91 girls with early thelarche (<8 years) and advanced bone age and/or accelerated growth who underwent 104 LHRH tests. Patients were classified into CPP (LH peak ≥5 IU/L; n = 28, 31%), TV (FSH peak ≥20 IU/L, LH peak <5 IU/L; n = 15, 16%), or PT (FSH peak <20 IU/L and LH peak 5 mm in TV (42%) was similar to CPP but significantly higher than PT, whereas maximum ovarian volume was smaller in TV (1.0 cm³). At the last follow-up visit (available in 60% of the cases), 44% of TV developed CPP compared with 14% of PT (p = 0.04). At first evaluation, those who progressed to CPP had a higher basal FSH (3.2 IU/L), lower LH/FSH ratio (0.07), and a higher peak LH (4.1 IU/L) compared with those who did not progress to CPP (basal FSH 1.9 IU/L, p < 0.01; basal LH/FSH ratio 0.12, p < 0.01; peak LH 2.8 IU/L, p = 0.02).Conclusion: Using laboratory parameters only as a definition, we identified the clinical, laboratory, and imaging features of TV: these girls showed less advanced bone age and FSH predominance also at baseline, with smaller ovaries but with follicles >5 mm. Almost half of girls initially diagnosed as TV developed CPP at last follow-up visit, and these girls had higher baseline FSH, lower baseline LH/FSH ratio, and higher peak LH at first evaluation. Therefore, TV may represent a “precocious prepuberty” in which the FSH predominance may initially limit the progression into proper puberty, but it may eventually trigger full puberty (even CPP, depending on the girls’ age).