Journal of Pediatric Endocrinology & Metabolism最新文献

{"title":"Cord blood metabolomic profiling in high risk newborns born to diabetic, obese, and overweight mothers: preliminary report.","authors":"Özlem Ünal Uzun, Duygu Eneş, Müge Çınar, Ayla Günlemez Adugit, Büşra Uçar, Ali Duranoğlu, Ufuk Bozkurt Obuz, Mustafa Çelebier, İncilay Lay","doi":"10.1515/jpem-2024-0605","DOIUrl":"https://doi.org/10.1515/jpem-2024-0605","url":null,"abstract":"<p><strong>Objectives: </strong>Newborns of diabetic and obese/overweight mothers face long-term metabolic risks. Untargeted cord blood metabolomic analysis using quadrupole time-of-flight liquid chromatography/mass spectrometry (Q-TOF LC/MS) was performed to explore metabolic alterations and pathways in these high-risk infants.</p><p><strong>Methods: </strong>Cord blood samples were collected from 46 newborns born to mothers with gestational diabetes (10), obesity (14), overweight (18), type 2 diabetes mellitus (3), type 1 diabetes mellitus (1), and 20 newborns born to healthy mothers. Q-TOF LC/MS was used to investigate the alterations in cord blood metabolomic profiles. Data processing was conducted using MZmine 2.53. Putative metabolites were idendtified using MetaboAnalyst 6.0.</p><p><strong>Results: </strong>Distinct metabolite profiles were observed between diabetes and control groups. Significant identical trend in 19 metabolites were determined in both diabetes and obesity + overweight group vs. control group. Key pathways included steroid and bile acid biosynthesis. Upregulated oxidative stress, clues to sphingophospholipid metabolism, high levels of dihomo-gamma-linolenic acid (DGLA), pantothenic acid, and TRH were detected. The kynurenine pathway was prominent in the diabetes group.</p><p><strong>Conclusions: </strong>Estrogen metabolites from the 16- and 2-pathways may indicate metabolic risk, with increased downstream flux under diabetic conditions. Accelerated bile acid synthesis may alter fetal metabolic programming, since bile acids play crucial roles in cellular energy regulation and signaling. Elevated pantothenic acid, essential for the production of coenzyme-A, suggests significant alterations in carbohydrate, protein, and fat metabolism. High serum DGLA levels emerge as a potential biomarker for metabolic abnormalities. Increased plasma kynurenines could predict cardiovascular risks. Larger targeted studies are required to validate these metabolic profiles and pathways.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804640","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":"Hormonal therapy for impaired growth due to pediatric-onset inflammatory bowel disease: a systematic review and meta-analysis with trial sequential analysis.","authors":"Mardhen Catunda Rocha Melo, Rian Vilar Lima, Maryana Modena Strada, João Lucas Maia Rocha, Beatriz Vieira Cavalcante, Maria Lya Pinheiro Bezerra, Lívia Vasconcelos Martins, Maria Clara Parente Torquato, Túlio Veras Veloso, Delanie Bulcao Macedo","doi":"10.1515/jpem-2024-0609","DOIUrl":"https://doi.org/10.1515/jpem-2024-0609","url":null,"abstract":"<p><strong>Introduction: </strong>Inflammatory bowel diseases (IBDs) have an increasing incidence in the pediatric population. The dysabsorptive effects of this condition often lead to a decrease in linear growth. However, the effectiveness and safety of growth hormone (GH) therapy in this population is still a topic of debate, with studies showing conflicting results.</p><p><strong>Content: </strong>MEDLINE, Embase, and Cochrane Library databases were systematically searched according to the PRISMA guidelines. All experimental studies featuring children with IBD receiving GH therapy were included. In addition, a trial sequential analysis (TSA) was conducted to determine the sample size required for each outcome. The prospective registry was carried out under protocol CRD42024563079. The total data set comprised eight studies involving 127 patients with IBD, 78 (61.41 %) of whom received GH therapy, with a mean follow-up duration of 1.3 years. A statistically significant effect of GH was found in increasing the height standard deviation score (HtSDS) of children with IBD (standardized mean difference - SMD=1.07; CI=0.58, 1.56; p<0.0001). When comparing children who received GH with controls, no significant improvement in HtSDS was observed (SMD=0.18; CI=-0.73, 1.08; p=0.70). However, meta-regression analysis indicated that a longer follow-up was associated with a greater improvement in the HtSDS (p=0.04). Regarding height velocity (HV), a significant increase was found when comparing measurements before and after the initiation of hormone therapy (mean difference - MD=4.09; CI=2.58, 5.60; p<0.0001). An increase in HV was also noted in children receiving GH compared to the control group (MD=4.47; CI=2.03, 6.90; p=0.0003). No significant changes in the Pediatric Crohn's Disease Activity Index (PCDAI) were detected, comparing values before and after the start of treatment (MD=-10.09; CI=-22.29, 2.10; p=0.10). The overall prevalence of any adverse effect was estimated at 15.51 % (95 % CI: 2.32-58.70 %). Most common reaction was itching at injection sites. TSA indicated a low risk of overestimating or underestimating the intervention's effect on the analyzed outcomes.</p><p><strong>Summary: </strong>Our study points to the effectiveness and safety of GH therapy in children with IBD and growth impairment.</p><p><strong>Outlook: </strong>Further randomized controlled trials (RCT) with standardized methodologies and extended follow-up periods are necessary to confirm these findings.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804573","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":"Cardiac function in children with congenital adrenal hyperplasia.","authors":"Tuğba Kontbay Çetin, Abdulkadir Akkuş, Müge Atar","doi":"10.1515/jpem-2025-0037","DOIUrl":"https://doi.org/10.1515/jpem-2025-0037","url":null,"abstract":"<p><strong>Objectives: </strong>Glucocorticoid excess or deficiency with hyperandrogenism may cause cardiovascular morbidity in patients with congenital adrenal hyperplasia (CAH) due to failing to mimic physiological circadian rhythm. This study aimed to evaluate the cardiac function in pediatric patients with CAH treated with conventional hydrocortisone treatment and its relation to hydrocortisone dose and therapy duration.</p><p><strong>Methods: </strong>Twenty-three pediatric patients with CAH, aged 3-16 years, and 21 age- and gender-matched healthy controls were enrolled to the study. All the patients were evaluated by physical examination, electrocardiogram (ECG), conventional echocardiography, and tissue Doppler imaging (TDI).</p><p><strong>Results: </strong>The mean Sm (systolic myocardial velocity) in the CAH group was 7.96 ± 1.22 cm/s, which was significantly lower than that in the control group (p=0.034). The mean systolic excursion in the CAH group was 14.17 ± 1.92 mm, which was significantly lower than that in the control group (p=0.046). The tricuspid-derived early diastolic myocardial velocity (Em) and the tricuspid-derived E/Em ratio were significantly higher in the CAH group than in the control group (p=0.003 and 0.008, respectively). No signs of left ventricular hypertrophy or dilatation were detected on ECG and echocardiography.</p><p><strong>Conclusions: </strong>Long-term conventional hydrocortisone therapy even within the recommended therapeutic range may adversely affect cardiac functions in children with 21-hydroxylase deficiency.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804638","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":"Impact of Covid-19 on children and adolescents with type 1 diabetes: lifestyle, telecommunication service, and quality of life.","authors":"Randa M Matter, Ghada E Amin, Nabil R Youssef, Yasmeen A Fereig","doi":"10.1515/jpem-2024-0437","DOIUrl":"https://doi.org/10.1515/jpem-2024-0437","url":null,"abstract":"<p><strong>Objectives: </strong>The COVID-19 pandemic brought about major changes, such as lifestyle changes, modification in telecommunication, as well as increased mental and psychological burden. This has raised concerns regarding its impact on the quality of life of children and adolescents with type 1 diabetes. To detect the impact of COVID-19 pandemic on children and adolescents with type 1 diabetes in terms of lifestyle changes and telecommunication service using a predesigned questionnaire, as well as quality of life using the Pediatric Quality of Life Inventory (PedsQL).</p><p><strong>Methods: </strong>A cross-sectional study including 286 participants with type 1 diabetes at the Pediatrics and Adolescent Diabetes Unit was conducted from March to August 2022. A predesigned questionnaire was used to collect data about lifestyle, telecommunication service, and quality of life using PedsQL.</p><p><strong>Results: </strong>Results show that most of the participants (62.2 %) food consumption increased during the lockdown period. Moreover, results also reveal that 79.7 % of the participants were informed about the telecommunication service, 93.4 % of them actually used it, and 88.6 % thought it was simple. As regards the quality of life, there was a statistically significant difference in PedsQL total score between the younger and older groups, with a p-value=0.009 indicating a better quality of life in the older group.</p><p><strong>Conclusions: </strong>The COVID-19 pandemic influenced the lifestyle of children and adolescents with type 1 diabetes. Their food consumption increased, the telemedicine service was easy to use and appealed to the majority, and the quality of life of older participants was better.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755564","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 diagnostic utility of bioelectrical impedance analysis in distinguishing precocious puberty from premature thelarche.","authors":"Serkan Bilge Koca, Tarık Kırkgöz, Leyla Kara","doi":"10.1515/jpem-2025-0028","DOIUrl":"https://doi.org/10.1515/jpem-2025-0028","url":null,"abstract":"<p><strong>Objectives: </strong>Clinical (assessing breast development), laboratory (FSH, LH, estradiol, and GnRH stimulation test), and radiological methods (bone age and pelvic ultrasonography) are used to distinguish central precocious puberty (CPP) from premature thelarche (PT). We examined also via bioelectrical impedance analysis (BIA).</p><p><strong>Methods: </strong>The fat mass (FM), fat-free mass (FFM), muscle mass (MM), bone mass (BM), total body water, and percentages (%), basal metabolic rate, phase angle (PhA), muscle-to-fat ratio (MFR), sarcopenic index, and segmental body proportions were determined via Tanita MC-780 MA model measuring device.</p><p><strong>Results: </strong>A total of 111 girls, 34 with CPP, 35 with PT, and 42 with healthy controls, were included. Although the baseline weight, height, and BMI SDS of the groups were not statistically different, the FM (%) was found to be lower (p=0.021), and the FFM (%) (p=0.021), MM (%) (p=0.015), BM (%) (p=0.022), and MFR values (p=0.017) were higher in CPP group. In CPP group, right arm FM (%) (p=0.016), left arm FM (%) (p=0.007), and trunk FM (%) (p=0.008) were lower than other groups.</p><p><strong>Conclusions: </strong>We detected a MFR cutoff value of (2.96) with 58.8 % sensitivity and 58.4 % specificity, a cutoff value of (3.57) with 50 % sensitivity and 82 % specificity to differentiate CPP cases from others (PT and healthy controls). These rates are relatively low, but these are the first results in this field and may be guiding for studies conducted in large series.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755578","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 disorders in juvenile idiopathic arthritis: a systemic review.","authors":"Soumaya Boussaid, Sonia Rekik, Hanene Lassoued Ferjani, Maissa Abbes, Safa Rahmouni, Khaoula Zouaoui, Rim Dhahri, Wafa Hamdi, Hela Sahli","doi":"10.1515/jpem-2024-0412","DOIUrl":"https://doi.org/10.1515/jpem-2024-0412","url":null,"abstract":"<p><strong>Introduction: </strong>Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disease beginning before 16 years. Inflammatory cytokine, medication, and genetic factors may lead to puberty disorders in children with JIA. The main objectives of this systematic review were to elucidate the impact of JIA on puberty and identify the influential factors that disrupt puberty.</p><p><strong>Content: </strong>A systematic literature review was performed on pubertal disorders from Medline, Google Scholar, and Scopus databases. This systematic review followed the preferred reporting items for systematic review guidelines. The initial search yielded 4,011 articles: identified by Google Scholar (3,880), PubMed (99), and Scopus (940). Finally, 11 articles were retained.</p><p><strong>Summary and outlook: </strong>The age of menarche onset, Tanner stage, and pubertal signs were later compared with controls. The mean age of menarche onset ranged from 12.0 ± 0.3 to 13.39 ± 0.93 years for the JIA girls. This delay was more reported in the polyarticular and oligoarticular subtypes. Menstrual irregularities, metrorrhagia with irregular cycles, primary oligomenorrhea, and secondary amenorrhea were also reported. Factors found to influence delayed menarche and puberty were steroid use, JIA subtype, disease duration, and age at onset. Any studies have focused on the effect of puberty on JIA outcomes. Overall, our review revealed that pubertal disorders are frequent in JIA patients with polyarticular and systemic subtypes. However, some influencing factors remain editable if well-assessed and controlled.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732656","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":"Presence of hyperandrogenemia in cases evaluated due to menstrual irregularity, the effect of clinical and/or biochemical hyperandrogenemia on polycystic ovary syndrome.","authors":"Serkan Bilge Koca, Esra Tengiç, Gönül Büyükyılmaz","doi":"10.1515/jpem-2025-0010","DOIUrl":"https://doi.org/10.1515/jpem-2025-0010","url":null,"abstract":"<p><strong>Objectives: </strong>Polycystic ovary syndrome (PCOS) is known one of the most common causes of menstrual irregularities and hyperandrogenism in adolescents. We compared cases with increased risk for PCOS (presence of clinical hyperandrogenemia (CH) and/or biochemical hyperandrogenemia (BH) along with menstrual irregularity (MI)) and cases with only MI.</p><p><strong>Methods: </strong>Patients were divided into four subgroups. Those with only MI (n=130), CH+MI (n=68), BH+MI (n=25), and CH+BH+MI (n=31). Age, weight, height, and body mass index were recorded. The CH was assessed by the presence of persistent acne, hirsutism, or androgenic alopecia. Modified Ferriman Gallwey (mFG) score was used to evaluate hirsutism. Cases with total testosterone levels above 55 ng/dL were considered to have BH.</p><p><strong>Results: </strong>We observed that basal LH and LH/FSH ratio do not provide insight into CH. Unlike, DHEA-S (p=0.006), total testosterone (p=0.003), and free androgen index (FAI) (p=0.027) are relatively high in patients with CH. Polycystic ovarian morphology (PCOM) is lower in cases with only MI compared to cases with increased risk of PCOS (43.3 vs. 56.7 %, p=0.096). We predicted that 28.05 μg/L for Total testosterone, 75.9 for FAI, and 192.9 μg/dL for DHEA-S could be used as a cut-off value with a sensitivity and specificity over 60 %, ​​to distinguish MI from increased risk for PCOS.</p><p><strong>Conclusions: </strong>After excluding other secondary endocrinological causes of MI in the first years, routine use of total testosterone, DHEA-S, and FAI is sufficient to distinguish cases presenting menstrual disorders due to anovulation from increased risk of PCOS.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702003","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":"Two families, two pathways: a case series of 46, XY DSD with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novel <i>CYB5A</i> variant.","authors":"Rakesh Garg, Manasvini Bhatt, Ashutosh Kumar Arya, Viveka P Jyotsna, Rajesh Khadgawat","doi":"10.1515/jpem-2024-0613","DOIUrl":"https://doi.org/10.1515/jpem-2024-0613","url":null,"abstract":"<p><strong>Objectives: </strong>17α-hydroxylase and 17,20-lyase are enzymes encoded by the <i>CYP17A1</i> gene mapped at chromosome 10q, and are required for the synthesis of sex steroids and cortisol. 17α-hydroxylase deficiency causes a decrease in cortisol and androgen with a subsequent overproduction of adrenocorticotrophic hormone (ACTH), gonadotropin, and 11-deoxycorticosterone. However, isolated 17,20-lyase deficiency is a rare condition that results in sex steroid deficiency with normal serum cortisol. This case series aims to report a novel canonical splice site <i>CYB5A</i> variant causing isolated 17,20-lyase deficiency and highlight the utility of steroid metabolomics in diagnosing 17α-hydroxylase and isolated 17,20-lyase deficiencies.</p><p><strong>Case presentations: </strong>We describe four patients with ambiguous genitalia who were accurately diagnosed through steroid metabolomics using liquid chromatography- mass spectroscopy (LC-MS). Genetic testing identified a novel homozygous likely pathogenic 5' canonical splice site variant, c.129 + 1G>A in intron 1 of <i>CYB5A</i> gene, resulting in isolated 17, 20 lyase deficiency.</p><p><strong>Conclusions: </strong>Here, we report four patients with 46, XY disorder of sexual development (DSD) from two families with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to cytochrome b5 variant with a variable spectrum of under-virilization who had received inadequate treatment for a prolonged period of time due to incorrect diagnosis.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694288","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":"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}