Journal of Pediatric Endocrinology & Metabolism最新文献

{"title":"Chronotype, sleep, and glycemic control in children and adolescents with type 1 diabetes: a case-control study.","authors":"Gulay Can Yilmaz, Mehmet Karadag","doi":"10.1515/jpem-2024-0492","DOIUrl":"https://doi.org/10.1515/jpem-2024-0492","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to explore the relationships between sleep parameters, chronotype preferences, and glycemic control in children and adolescents with type 1 diabetes (T1DM), compared to healthy peers.</p><p><strong>Methods: </strong>96 children and adolescents with T1DM and 95 healthy controls aged 8-18 years participated in this case-control study. Anthropometric measurements were collected, and participants completed the Munich Chronotype Questionnaire and the Pittsburgh Sleep Quality Index (PSQI). Glycemic control was assessed using HbA1c levels.</p><p><strong>Results: </strong>Children with T1DM demonstrated significantly shorter sleep durations, poorer sleep quality, and a later chronotype compared to controls (p<0.05). Poor glycemic control (HbA1c>7.5 %) was observed in 72.9 % of the T1DM group, with 34.3 % exhibiting very poor control (HbA1c>9 %). Logistic regression identified poor sleep quality (PSQI score, OR: 1.47, p<0.001) and later chronotype (OR: 5.14, p<0.01) as independent predictors of poor glycemic control. Generalized linear modeling (GLM) further revealed significant associations between HbA1c levels, insulin dosage (p<0.001), and chronotype (p=0.090).</p><p><strong>Conclusions: </strong>Late chronotype and poor sleep quality are closely linked to suboptimal glycemic control in pediatric T1DM populations. These findings underscore the importance of integrating sleep-focused strategies into routine diabetes management.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coexistence of <i>SRY, DHX37</i> and <i>POR</i> gene variants in a patient with 46,XY disorder of sex development.","authors":"Ayse Ozden, Hakan Doneray, Ayberk Turkyilmaz, Binali Firinci","doi":"10.1515/jpem-2024-0554","DOIUrl":"https://doi.org/10.1515/jpem-2024-0554","url":null,"abstract":"<p><strong>Objectives: </strong>Here we present a case of 46,XY disorder of sex development (DSD) in which three variants were detected in the <i>SRY</i>, <i>DHX37</i>, and <i>POR</i> genes.</p><p><strong>Case presentation: </strong>A patient with 46,XY karyotype and female phenotype presented at 15 years 3 months of age due to absence of puberty. She exhibited facial signs such as midfacial hypoplasia, long face, proptosis, bulbous nose, mild prognathism and skeletal signs such as scoliosis, pectus carinatum, arachnodactyly and her sex development remained prepubertal. The patient was found to have hypergonadotropic hypogonadism, elevation of 17-OH progesterone and progesterone levels, low anti-mullerian hormone and inhibin B levels, and absence of gonads and a hypoplastic uterus on pelvic ultrasound. Whole exome sequencing revealed a novel hemizygous missense variant in the <i>SRY</i> gene (c.247C>T, p.Pro83Ser), a homozygous missense variant in the <i>POR</i> gene (c.1355C>T, p.Pro452Leu), and a novel heterozygous missense variant in the <i>DHX37</i> gene (c.1325A>G, p.His442Arg).</p><p><strong>Conclusions: </strong>Our patient is the first case in which the coexistence of variants in the <i>SRY</i>, <i>DHX37</i> and <i>POR</i> genes was detected. This case suggests that a combined phenotype characterized by DSD and alterations in adrenal function may result from genetic variants in the <i>SRY</i>, <i>DHX37</i> and <i>POR</i> genes involved in gonadal development and synthesis of adrenal hormones.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bioinformatics analysis explores key pathways and hub genes in central precocious puberty.","authors":"Na Guo, Hongyun Li, Jinhong He, Linlin Yang, Huijuan Ma","doi":"10.1515/jpem-2024-0617","DOIUrl":"https://doi.org/10.1515/jpem-2024-0617","url":null,"abstract":"<p><strong>Objectives: </strong>Central precocious puberty (CPP) is one of the common endocrine diseases in pediatrics. However, the molecular mechanisms regulating development of CPP have remained unclear. The purpose of this study was to discover the key pathways and hub genes related to CPP.</p><p><strong>Methods: </strong>We analyzed two public datasets (GSE7142 and GSE8310) to identify differentially expressed genes in the progression of CPP. Then, we screened out overlapping differential genes from these two datasets and performed a series of bioinformatics analyses to explore promising targets and molecule mechanism of CPP.</p><p><strong>Results: </strong>We identified 30 down-regulated overlapping DEGs between GSE7142 (CPP/no CPP) and GSE8130 (EP/JUV) datasets and 17 down-regulated overlapping DEGs between GSE7142 (CPP/no CPP) and GSE8130 (LP/JUV) datasets. KEGG signaling pathway shows that calcium signaling pathway is suppressed continuously in early and late pubertal of CPP patients. MAPK signaling pathway also plays an important role in the occurrence and development of CPP. Eventually, we screened out 2 hub genes (<i>FGFR2 and FLT1</i>) highly related to CPP, which may provide a new directions for the diagnosis and treatment of CPP.</p><p><strong>Conclusions: </strong>While further validation is needed, we provide useful and novel information to explore potential signaling pathways and candidate genes for CPP diagnosis and treatment options.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal vitamin D status for Chinese infants in Hong Kong: insights from the relationship between serum 25-hydroxyvitamin D and parathyroid hormone levels.","authors":"Joanna Yuet-Ling Tung, Hung-Kwan So, Ka-Man Yip, Sarah Wing-Yiu Poon, Gloria Shir-Wey Pang, Keith Tsz-Suen Tung, Hing-Wai Tsang, Wilfred Hing-Sang Wong, Patrick Ip","doi":"10.1515/jpem-2024-0507","DOIUrl":"https://doi.org/10.1515/jpem-2024-0507","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to identify the 25-hydroxyvitamin D (25OHD) threshold that maximally suppressed parathyroid hormone (PTH) in a group of healthy Chinese Infants in Hong Kong.</p><p><strong>Methods: </strong>Healthy infants detected to have low serum 25OHD less than 25 nmol/L in a population study on vitamin D status were referred to Hong Kong Children's Hospital (HKCH) for further management. Their total 25OHD was repeated with serum calcium, phosphate, alkaline phosphatase and PTH. Three-phase segmented regression was used to identify the optimal breakpoint between 25OHD and PTH.</p><p><strong>Results: </strong>Two hundred and twelve infants were included (59 % male). They were reassessed at a median age of 156 days (IQR: 111-247 days). Using unadjusted three-phase segmented regression, the estimated breakpoint of 25OHD on PTH suppression, after adjusting for factors including age, gender, history of vitamin D supplement and mode of feeding, was 20.0 nmol/L (95 % CI: 13.1 to 26.9).</p><p><strong>Conclusions: </strong>The threshold of 25OHD that triggered the inflection point for PTH in our Hong Kong Chinese infants was lower than that reported in the Western literature. This might imply the cutoff for vitamin D deficiency is lower for Chinese infants. This could be explained by younger age and different ethnicity. Further study with larger sample size is needed to validate the observation.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A recent update on childhood obesity: aetiology, treatment and complications.","authors":"Katherine Hawton, Diksha Shirodkar, Thomas Siese, Julian P Hamilton-Shield, Dinesh Giri","doi":"10.1515/jpem-2024-0316","DOIUrl":"https://doi.org/10.1515/jpem-2024-0316","url":null,"abstract":"<p><p>Obesity is a complex, chronic condition characterised by excess adiposity. Rates of obesity in childhood and adolescence are increasing worldwide, with a corresponding increase in adulthood. The aetiology of obesity is multifactorial and results from a combination of endocrine, genetic, environmental and societal factors. Population level approaches to reduce the prevalence of childhood obesity worldwide are urgently needed. There are wide-ranging complications from excess weight affecting every system in the body, which lead to significant morbidity and reduced life expectancy. Treatment of obesity and its complications requires a multi-faceted, biopsychosocial approach incorporating dietary, exercise and psychological treatments. Pharmacological treatments for treating childhood obesity have recently become available, and there is further development of new anti-obesity medications in the pipeline. In addition, bariatric surgery is being increasingly recognised as a treatment option for obesity in adolescence providing the potential to reverse complications related to excess weight. In this review, we present an update on the prevalence, aetiology, complications and treatment of childhood obesity.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prader-Willi syndrome gene expression profiling of obese and non-obese patients reveals transcriptional changes in CLEC4D and ANXA3.","authors":"Ju Young Yoon, Choong Ho Shin, Murim Choi, Jung Min Ko, Young Ah Lee, Kye Shik Shim, Jun Lee, Suk Dong Yoo, Minji Kim, Yeuni Yu, Joo Young Lee, Yunhak Kim, Chong Kun Cheon","doi":"10.1515/jpem-2024-0408","DOIUrl":"https://doi.org/10.1515/jpem-2024-0408","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to characterize genetic alterations in PWS using whole genome microarrays.</p><p><strong>Methods: </strong>We performed mRNA expression microarray analysis using RNA isolated from whole blood of 25 PWS patients and 25 age-matched controls. After preprocessing the data to reduce heterogeneity, differentially expressed genes (DEGs) between groups were identified using a linear regression model package. Reactome pathway analysis was performed for upregulated and downregulated genes using EnrichR. Correlations between gene expression levels and clinical factors were estimated using Spearman's rank correlation coefficient.</p><p><strong>Results: </strong>Of 21,488 probes examined in the microarray analysis, 4,156 were detected. Fifty-two genes had different expression levels in children with PWS compared with healthy controls (36 genes upregulated and 16 downregulated). Twelve genes were upregulated and 13 were downregulated in obese PWS patients compared with normal-weight PWS (NW-PWS) patients. The C-type lectin domain family 4 member D (CLEC4D) was upregulated in both PWS (vs. control) and obese-PWS (vs. NW-PWS) patients, and CLEC4D expression was also correlated with body mass index-standard deviation score in PWS patients. Among the genes upregulated in obese PWS vs. NW-PWS, Annexin A3 (ANXA3), potassium inwardly rectifying channel subfamily J member 15 (KCNJ15), and selenium binding protein 1 (SELENBP1) were upregulated in obese-control vs. NW-control. Gene ontology analysis revealed that upregulated DEGs were significantly enriched in biological processes, including pathways involved in myeloid dendritic cell activation associated with CLEC4D.</p><p><strong>Conclusions: </strong>This study revealed differences in gene expression between obese and NW-PWS patients. The regulation of macrophage infiltration by CLEC4D suggests a possible mechanism associated with obesity-related complications in PWS.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Determinants of childhood and adolescent obesity and it's effect on metabolism in South Indian population.","authors":"Sengottaiyan Palanivel, Egappan Subbiah, K S Raghavan, Subbiah Sridhar","doi":"10.1515/jpem-2024-0340","DOIUrl":"https://doi.org/10.1515/jpem-2024-0340","url":null,"abstract":"<p><strong>Objectives: </strong>The primary objective is to determine the risk factors underlying the development of childhood and adolescent obesity. The secondary objective is to determine the predictors of metabolic syndrome (MetS) in childhood and adolescent obesity and its metabolic alterations in the South Indian population.</p><p><strong>Methods: </strong>This is a cross-sectional study conducted over two years. We have screened 3,195 school children and adolescents from lower and lower-middle socioeconomic groups. From this pool, by random cluster sampling technique, we have included 166 overweight and obese individuals and 38 control subjects. We have analyzed their sociodemographic, dietary, lifestyle, anthropometric, clinical, and metabolic parameters.</p><p><strong>Results: </strong>The prevalence of overweight and obesity in rural areas was 14.2 and 7.6 %, respectively, and in urban areas, it was 16.1 and 8.8 %, respectively. The age distribution of the control and study group is 12.3 ± 1.5 and 13.0 ± 1.9 years with a male-to-female ratio of 1.4:1 and 1.6:1, respectively. Our study found a higher average consumption of energy-dense food and screen time in the obese group compared to the control group. The average outdoor play time was 1.5 h per day in the control group and less than 0.5 h per day in the obese group. In our study, the waist-to-height ratio (WHtR) optimum cutoff value of 0.56, has 95 % sensitivity and 84 % specificity, effectively identifying MetS cases. HOMA-IR optimum cutoff value of 2.25, has 96 % sensitivity and 72 % specificity. The triglyceride-glucose index (TGI) optimum cutoff value of 4.51, has 92 % sensitivity and 88 % specificity indicating a strong balance between correctly identifying positive and negative MetS cases.</p><p><strong>Conclusions: </strong>Our study found that even in lower socioeconomic status, there is a higher prevalence of childhood and adolescent obesity due to an urbanized lifestyle in rural areas, a sedentary lifestyle, higher consumption of low-cost energy-dense foods, and higher screening time in this electronic era<b>.</b> We also conclude that WHtR is a simple anthropometric marker that predicts MetS more effectively than BMI and WHR among children and adolescents. HOMA-IR and TGI are effective biochemical markers to identify metabolically unhealthy obesity early.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early-onset growth hormone treatment in Prader-Willi syndrome attenuates transition to severe obesity.","authors":"Aneta Kodytková, Shenali Anne Amaratunga, Eva El-Lababidi, Ivana Čermáková, Jana Černá, Marcela Dvořáková, Božena Kalvachová, Stanislava Koloušková, Ivana Kotvalová, Olga Magnová, David Neumann, Dana Novotná, Barbora Obermannová, Renata Pomahačová, Štěpánka Průhová, Jiří Strnadel, Jaroslav Škvor, Marta Šnajderová, Zdeněk Šumník, Jirina Zapletalová, Daniela Zemková, Kateřina Kusalová, Jiří Šilar, Jan Lebl","doi":"10.1515/jpem-2024-0463","DOIUrl":"https://doi.org/10.1515/jpem-2024-0463","url":null,"abstract":"<p><strong>Objectives: </strong>Subsequent to early life feeding issues, children with Prader-Willi syndrome (PWS) develop hyperphagia and severe obesity. Growth hormone (GH) therapy has been approved in PWS to improve growth, body composition, and BMI. We aimed to clarify the role of age at GH therapy onset on growth and BMI trajectories in children with PWS.</p><p><strong>Methods: </strong>We analyzed height and BMI in 114 patients (58 boys) from REPAR - Czech national GH registry. From them, 69 started GH therapy prior to 2 y/o (age 0.8 ± 0.4 years; mean ± SD; early-onset group [EO]), and 45 later (age 7.1 ± 4.1 years; late-onset group [LO]).</p><p><strong>Results: </strong>Height-SDS before therapy was similar in all (EO: -1.9 ± 1.2 [mean ± SD]; LO: -1.7 ± 1.1). After the first year of GH therapy, height-SDS in the EO group increased to -1.0 ± 1.2, in the LO group to -0.9 ± 1.1. After 5 years, height fully normalized in all (-0.1 ± 1.1 SDS). The LO children were already obese at treatment initiation (BMI-SDS: 2.9 ± 2.2), and their BMI-SDS decreased after 1 year of GH therapy by 0.9 (p=0.003). The weight in EO children was below average before GH treatment (BMI-SDS: -0.9 ± 1.2) and their BMI-SDS increased to the overweight range of 1.3 ± 2.2 (p<0.001) within the oncoming 3 years. Albeit BMI-SDS was around the obesity limit in most children after 5 years on GH therapy, the highest lifetime BMI-SDS was lower in EO (2.2 ± 2.6) than in LO (3.7 ± 2.2; p<0.001).</p><p><strong>Conclusions: </strong>GH treatment in PWS normalizes body height. After 5 years of GH therapy, BMI-SDS in EO and LO groups are similar; however, the EO group is exposed to lower maximal BMI-SDS values.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The clinical characteristics of 10 cases and adult height of six cases of rare familial male-limited precocious puberty.","authors":"Dandan Xie, Song Guo, Huamei Ma, Yanhong Li, Rujiang Zheng, Jun Zhang, Qiuli Chen","doi":"10.1515/jpem-2024-0602","DOIUrl":"https://doi.org/10.1515/jpem-2024-0602","url":null,"abstract":"<p><strong>Objectives: </strong>Familial Male-Limited Precocious Puberty (FMPP) is a rare autosomal-dominant genetic condition with sexual dimorphism. We aim to summarize the clinical characteristics of FMPP patients and emphasize the use of a therapeutic regimen involving letrozole, spironolactone, and GnRHa, to augment clinician's understanding of the disease, thus enhancing patient care.</p><p><strong>Methods: </strong>We retrospectively analyzed the clinical data of 10 FMPP patients and conducted follow-up assessments of adult height in six patients.</p><p><strong>Results: </strong>Out of the 10 FMPP cases, five had the <i>LHCGR M398T</i> mutation, three exhibited the <i>LHCGR A564G</i> mutation, and two had the <i>LHCGR T577I</i> mutation. All patients initially presented with symptoms like penile enlargement, frequent erections, and rapid growth. Their median age at diagnosis was 4.67 years with bone age being 9 years. Four patients were untreated with a median adult height of 162 cm. Six patients underwent treatment between ages 3.58 and 5.5 years noting decreased frequency of erections, slower growth rate, and delayed bone age progression. Secondary Central Precocious Puberty (CPP) developed between ages 5 and 6.5 years in all cases, necessitating additional GnRHa treatment. Two treated cases reached an adult height of 176 cm and 173 cm, respectively, without any significant adverse effects.</p><p><strong>Conclusions: </strong>The most prevalent genotype among FMPP patients in this study was the <i>LHCGR M398T</i> mutation. Early intervention using a regimen including letrozole and spironolactone, and later GnRHa, appears beneficial in limiting physical signs and improving adult height without major side effects. However, the longer-term effects on fertility require further investigation.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy.","authors":"Giorgio Sodero, Clelia Cipolla, Donato Rigante, Federica Arzilli, Eugenio Maria Mercuri","doi":"10.1515/jpem-2025-0061","DOIUrl":"https://doi.org/10.1515/jpem-2025-0061","url":null,"abstract":"<p><strong>Objectives: </strong>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 DMD.</p><p><strong>Content: </strong>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. All of them were on glucocorticoid therapy with variable duration and the longest follow-up of 11.7 years. In all patients, the induction protocol was successful (leading to appearance of secondary sexual characteristics); no secondary effects were reported by any analyzed studies. Three papers reported an objective improvement of patients' quality of life, while in four there was a benefit on the bone profile.</p><p><strong>Summary: </strong>Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder that affects approximately 1 in 5,000 live-born male children. Because of early and chronic exposure to glucocorticoids, used as standards of care, pubertal development may be variable. While some boys experience a normal pubertal growth spurt, others have testosterone levels below the normal range for age and require pubertal induction therapy to achieve an adequate testicular volume, development of secondary sexual characteristics, and peak bone mass. When and how to use pubertal induction therapy in pediatric patients with DMD is still object of controversy.</p><p><strong>Outlook: </strong>The reported evidence of testosterone therapy in patients with DMD is still limited to small cohort sizes, which suggest efficacy and psychosocial benefits.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}