Journal of Pediatric Endocrinology & Metabolism最新文献

{"title":"Patterns and determinants of serum amylase, lipase concentrations in Indian adolescents and youth with type 1 diabetes.","authors":"Nimisha Shankar Dange, Chirantap Oza, Vaman Khadilkar, Ketan Gondhalekar, Sushil Yewale, Anuradha Khadilkar","doi":"10.1515/jpem-2024-0314","DOIUrl":"https://doi.org/10.1515/jpem-2024-0314","url":null,"abstract":"<p><strong>Objectives: </strong>Exocrine pancreatic insufficiency has been demonstrated in type 1 diabetes (T1D); lower concentrations of pancreatic enzymes have been associated with metabolic risk (MR). Influence of puberty and MR factors on serum concentrations of amylase and lipase remain unexplored in Indian youth with T1D. 1) To characterize and predict determinants of serum amylase and lipase concentrations in adolescents/youth with T1D. 2) To assess relationship between amylase, lipase, and prevalence of MR.</p><p><strong>Methods: </strong>Cross sectional, observational study on 291 (155 girls) adolescents/youth (10-24 years) with T1D. History, examination, body composition, biochemistry (glycated hemoglobin [HbA1c], thyroid stimulating hormone [TSH], lipids).</p><p><strong>Results: </strong>Mean age, diabetes duration and HbA1c were 15.3, 7.0 years and 10.0 ± 2.1, respectively. Relative risk of lower amylase/higher lipase concentrations (<median) in participants with poor glycemic control (HbA1c>9.5 %) was 1.42 and 1.34, respectively, though these did not reach statistical significance. In pubertal participants, amylase was lower and lipase higher; association was not found with MR. Higher TSH and lower serum calcium were significantly associated with higher lipase (p<0.001).</p><p><strong>Conclusions: </strong>We have characterized amylase and lipase concentrations across puberty; poor glycemic control tended to be associated with lower amylase and higher lipase, though these findings did not reach statistical significance. Amylase and lipase concentrations should be monitored in Indian adolescents with T1D, particularly in those with poor metabolic control, puberty, uncontrolled hypothyroidism, or reduced calcium intake, while further longitudinal and larger studies are needed to generalize these findings.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878549","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":"Central precocious puberty in a toddler with hypothalamic hamartoma.","authors":"Banu Turhan, Gönül Büyükyılmaz, Mehmet Boyraz","doi":"10.1515/jpem-2024-0273","DOIUrl":"https://doi.org/10.1515/jpem-2024-0273","url":null,"abstract":"<p><strong>Objectives: </strong>Hypothalamic hamartoma (HH) is a rare condition that causes epilepsy and central precocious puberty (CPP) at an early age. In this report, we describe a child with CPP secondary to HH and discuss the current literature.</p><p><strong>Case presentation: </strong>A 26-month-old girl was brought to our hospital for evaluation of breast enlargement. Her parents were first-degree relatives. Her breast development was categorized as Tanner stage 3, and her bone age was 7 years/4 months. Laboratory investigations were consistent with CPP. Brain magnetic resonance imaging (MRI) revealed a smooth, spherical lesion in the hypothalamus, located in the tuber cinereum and measuring 11 × 9 × 10 mm. The lesion was identified as a HH. The patient was started on gonadotropin-releasing hormone analogue therapy, specifically 200 μg/kg/month of leuprolide acetate (3.75 mg depot) administered intramuscularly every 28 days. During the 2-year follow-up, her breast development remained at Tanner stage 3, and she did not develop axillary or pubic hair. Her bone age was 7 years/6 months (chronological age; 4 years/2 months). 2-year follow-up MRI showed no change in the size or contours of the HH compared with the initial diagnosis. No side effects from the medical treatment were observed during the follow-up period.</p><p><strong>Conclusions: </strong>In patients under the age of 4 years showing signs of CPP, HH should be considered as diagnosis. All patients receiving medical treatment should be closely monitored.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878545","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 effect of phlebotomy and placement of an intravenous catheter on plasma catecholamine and serum copeptin concentrations.","authors":"Shruti Sastry, Emir Tas, Domenic Filingeri, Erika McCann, Rahul Amruthapuri, Michael J McPhaul, Luigi Garibaldi","doi":"10.1515/jpem-2024-0422","DOIUrl":"https://doi.org/10.1515/jpem-2024-0422","url":null,"abstract":"<p><strong>Objectives: </strong>Limited data are available on the hormonal response of children to venepuncture or intravenous cannulation (IVC). Catecholamines [epinephrine (E) and norepinephrine (NE)] have been traditionally recognized as stress hormones. Copeptin, the carboxyl-terminus of the arginine vasopressin (AVP) precursor peptide, is also a known marker for stressful stimuli, including myocardial infarction, critical illness, and sepsis. We aimed to measure the above stress markers in response to IVC in the pediatric population.</p><p><strong>Methods: </strong>We measured plasma E, NE and serum copeptin concentrations in 100 children aged 5-17 years undergoing endocrine testing. Labs were drawn 1-3 min (min) after placement of IV cannula (baseline or 0 min) and then re-measured 20 min later (+20 min) while subjects rested in a quiet room.</p><p><strong>Results: </strong>Between 0 and 20 min, the median (IQR) NE (n=99) changed from 349 (244, 482) pg/mL to 253 (184, 348) pg/mL (p<0.001); E (n=54) changed from 57 (43, 116) pg/mL to 57 (38, 96) pg/mL (p=0.024); Copeptin changed from 9.4 (6.3, 15.2) pmol/L to 9 (5, 13) pmol/L (p<0.001). The mean decrease (delta) was 106 pg/mL for NE (28 %, p<0.001), 16 pg/mL for E (18 %, p=0.042) and 2.7 pmol/L for copeptin (17 %, p=0.012). There was no correlation between the decrease (expressed as a percentage) in NE vs. E, E vs. copeptin, and NE vs. copeptin.</p><p><strong>Conclusions: </strong>Our data suggest that the stress of IVC induces a rapid increase in NE, E, as previously described, as well as copeptin levels. The copeptin decrement, concordant with the catecholamine trend in the minutes after IVC, supports this peptide (and AVP) as a rapid response marker of stress, and has unclear practical implications for copeptin measurements in evaluating fluid and sodium metabolism disorders in children.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840112","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":"Autosomally dominantly inherited isolated gonadotropin deficiency via maternal assisted reproduction due to SOX10 mutation.","authors":"Shadi Bakjaji, Robert P Hoffman","doi":"10.1515/jpem-2024-0501","DOIUrl":"https://doi.org/10.1515/jpem-2024-0501","url":null,"abstract":"<p><strong>Background: </strong>Kallmann syndrome (KS) is a rare genetic disorder marked by hypogonadotropic hypogonadism and either anosmia or hyposmia. It exhibits genetic heterogeneity, with mutations identified in only 30 % of cases, involving various genes such as KAL1, FGFR1, FGF8, CHD7, and SOX10. Here, we present a case of gonadotropin deficiency associated with KS, observed in both a mother and her daughter, the latter conceived through assisted reproductive technology using the mother's ovum.</p><p><strong>Case summary: </strong>A 12-year-old female presented with short stature and lack of growth over the past year. Initial laboratory testing revealed mildly elevated TSH (8.348 uIU/mL), normal free T4 (0.9 ng/dL), and positive thyroid antibodies, including elevated TPO (629 IU/mL). Her growth hormone peak response to stimulation testing was 12.8 ng/mL, and GnRH stimulation indicated a peak LH value of 1.78 mIU/mL and a peak FSH value of 2.83 mIU/mL, consistent with hypogonadotropic hypogonadism (HH). Genetic testing identified a novel heterozygous variant in the SOX10 gene, predicted to be damaging, and also present in her mother, who had Kallmann syndrome. The patient was initiated on low-dose estrogen therapy with estradiol patches to stimulate growth and pubertal development.</p><p><strong>Conclusions: </strong>This case highlights the transmission of a novel SOX10 mutation in a mother-daughter pair through assisted reproductive technology, bypassing the typical infertility-related barriers to genetic inheritance in KS. The autosomal dominant inheritance pattern observed in this family emphasizes the importance of genetic counseling when reproductive assistance is considered. This case also suggests that SOX10 mutations may contribute more broadly to the pathogenesis of KS and related HH.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840098","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":"Effects of orlistat on body mass index and serum lipids in overweight and obese adolescents: a meta-analysis.","authors":"Lingnan Zhang, Chang Meng, Fang Zhang, Xinwei Jia, Junmin Xie, Yeran Zhu, Xiaozhe Zhou, Peng Liu","doi":"10.1515/jpem-2024-0429","DOIUrl":"https://doi.org/10.1515/jpem-2024-0429","url":null,"abstract":"<p><strong>Objectives: </strong>We performed a meta-analysis to compare the effects of orlistat on body mass index and serum lipids in overweight and obese adolescents.</p><p><strong>Methods: </strong>The meta-analysis was conducted to identify randomized controlled trials (RCTs) published up to 1 August 2024. PubMed, Embase, and Cochrane Library databases were searched. The outcome measures body mass index (BMI) and serum lipids, such as total cholesterol (TC), total triglycerides (TG), low-density lipoprotein (LDL), and high-density lipoprotein (HDL). The review of publications was conducted in accordance with the guidelines set forth in the Cochrane Handbook and the Preferred Reporting Project for Systematic Review and Meta-Analysis (PRISMA).</p><p><strong>Results: </strong>This study has been registered with INPLASY (number INPLASY202480052). A total of 696 patients were included in five randomized controlled trials. The orlistat group reduced BMI compared to placebo in the short term (MD=-0.73, 95 % CI: -1.44 to -0.02, p=0.04, I²=73 %) but appeared to have little effect in the long term (MD=-1.72, 95%CI: -3.55 to 0.12, p=0.07, I²=84 %). The exciting thing is that orlistat can significantly improve blood lipid levels in children, TC (MD=-8.11, 95 % CI: -10.88 to -5.33, P<0.05, I²=0 %), TG (MD=-3.22, 95 % CI: -5.58 to -0.86, P<0.05, I²=0 %), LDL (MD=-6.06, 95 % CI: -8.75 to -3.37, P<0.05, I²=0 %), and HDL (MD=0.87, 95 % CI: 0.13-1.61, P<0.05, I²=31 %).</p><p><strong>Conclusions: </strong>Orlistat has been linked to alter lipid levels in obese or overweight children. However, the evidence regarding its efficacy in reducing BMI is inconclusive, with inconsistent findings across short and long-term studies. Further randomized controlled trials are necessary to ascertain its long-term impact on prognosis.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796166","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":"Nephrogenic diabetes insipidus results from a novel in-frame deletion of <i>AVPR2</i> gene in monozygotic-twin boys and their mother and grandmother.","authors":"Shengfang Qin, Zemin Luo, Jin Wang, Xueyan Wang, Ximin Chen, Mengling Ye, Xiangyou Leng","doi":"10.1515/jpem-2024-0301","DOIUrl":"https://doi.org/10.1515/jpem-2024-0301","url":null,"abstract":"<p><strong>Objectives: </strong>Mutations in the <i>AVPR2</i> gene are the most common cause of nephrogenic diabetes insipidus(NDI). In-frame deletions of the <i>AVPR2</i> gene are a rare variant that results in NDI. We report a novel variant of the p.H138del in an NDI family with twin male patients and three female carriers of different clinical phenotypes.</p><p><strong>Methods: </strong>The proband's blood genome was sequenced with a panel, and the variants were classified according to ACMG/AMP (2015) guidelines. X chromosome inactivation (XCI) was analyzed in the peripheral blood of his mother, grandmother, and maternal aunt, respectively. The haplotypes of the X chromosome were determined using their STR loci.</p><p><strong>Results: </strong>A novel in-frame deletion in the <i>AVPR2</i> gene was detected in monozygotic-twin boys, and his mother, grandmother, and maternal aunt were heterozygous carriers. The two boys showed typical NDI, and their mother and grandmother presented polydipsia, polydipsia, and polyuria, but the maternal aunt did not have similar symptoms. The blood XCI results of the mother, grandmother, and maternal aunt showed random inactivation (36.18 , 48.37, and 49.30 %, respectively). The X haplotype indicated that the variant of the mother and grandmother was on their activated X chromosomes(Xa), while the maternal aunt's variant was on her inactivated X chromosome(Xi).</p><p><strong>Conclusions: </strong>In-frame deletion of the <i>AVPR2</i> gene within its functional domain can significantly affect protein function, which is one of the vital causes of NDI. The clinical variability of female carriers of <i>AVPR2</i> is associated with underlying environmental and epigenetic factors or complex recombination of the X chromosomes.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796244","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":"Psychological and behavioral assessments in girls with idiopathic central precocious puberty.","authors":"Warisa Uthayo, Hathaichanok Chunin, Khemika K Sudnawa, Wirongrong Arunyanart, Voraluck Phatarakijnirund","doi":"10.1515/jpem-2024-0186","DOIUrl":"https://doi.org/10.1515/jpem-2024-0186","url":null,"abstract":"<p><strong>Objectives: </strong>Idiopathic central precocious puberty (iCPP) is the most common cause of precocious puberty in girls. However, research on the psychological outcomes of iCPP girls is limited. To evaluated the psychological characteristics in iCPP girls in comparison to prepubertal girls throughout the first diagnosis and six-month follow-up period.</p><p><strong>Methods: </strong>Eighty-five girls, age 6-8 years, and their caregivers were enrolled to the prospective cohort study. Three Thai-standardized questionnaires were used as psychological assessment tools, including Children's Depression Inventory (CDI), Parent Screen for Child Anxiety Related Disorders (SCARED) and Parent-Strengths and Difficulties Questionnaire (SDQ).</p><p><strong>Results: </strong>Forty-six iCPP and 39 prepuberty girls were enrolled at baseline. No significant differences in psychological and behavioral problems between iCPP and prepuberty girls. However, the iCPP group exhibited a significantly higher proportion of \"risk and problem\" for emotional problems compares to the prepuberty group (7 vs. 0, p 0.01) while the prepuberty group exhibits the significantly proportion of \"risk\" for peer problems (6 vs. 0, p 0.007). At baseline, twelve percent of iCPP girls exhibited depression and mean CDI score was 8.1 ± 7.2 and 3.7 ± 2.3 (p 0.007) in iCPP and prepuberty group, respectively. At the 6-month follow-up, there was no significant difference in psychological outcomes between two groups.</p><p><strong>Conclusions: </strong>There were no significant differences in psychological and behavioral problems in iCPP girls compared to prepubertal girls. However, the higher prevalence of emotional problems and depression observed in iCPP girls constitutes significant psychological issues that necessitate close monitoring.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695838","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":"Reviewer Acknowledgment.","authors":"","doi":"10.1515/jpem-2024-2001","DOIUrl":"https://doi.org/10.1515/jpem-2024-2001","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683273","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":"Association between overweight or obesity and vitamin D status in preschool children: an epidemiological survey in Beijing, China, 2021-2023.","authors":"Li Yuan, Huiyu Wang, Yan Luo, Lei Wang","doi":"10.1515/jpem-2024-0330","DOIUrl":"10.1515/jpem-2024-0330","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have shown that vitamin D deficiency is a risk factor for obesity in children and adolescents, but most focus on school-age children and adolescents, with little attention paid preschoolers.</p><p><strong>Objectives: </strong>To explore the relationship between overweight or obesity in the context of vitamin D intake among preschool children in Beijing, and analyze the correlation.</p><p><strong>Methods: </strong>A total of 51,640 preschoolers (26,775 boys; 24,865 girls), aged 1-6 years, were recruited for physical examination. Overweight or obesity was defined according to the World Health Organization Child Growth and Development Standards (2006 edition). Serum 25-hydroxy (OH) vitamin D levels were determined using standardized liquid chromatography-tandem mass spectrometry (LC-MS/MS), and vitamin D status was evaluated based on the Practice Guide on Clinical Issues Related to Vitamin D Nutrition in Chinese Children (2022).</p><p><strong>Results: </strong>No significant change was observed in the incidence of overweight (7.72, 7.51, and 7.24 %) or obesity (2.75, 2.63, and 2.40 %) from 2021 to 2023. Among boys, 7.3 % were overweight and 2.8 % were obese. Among girls, 7.6 % were overweight and 2.3 % were obese. Vitamin D deficiency (2.10, 1.70, and 1.01 %) and insufficiency rate (24.09, 18.42, and 15.44 %) showed a decreasing trend. Deficiency or insufficiency was most common in children aged 36-59 months, and serum 25- (OH) vitamin D levels were significantly lower in winter compared to other seasons, with the highest levels in summer. Time spent outdoors was significantly less among children with vitamin D deficiency or insufficiency, and preschoolers who spent more than 2.94 h/day had higher serum vitamin D level. Serum 25- (OH) vitamin D levels were negatively correlated with body mass index (BMI), with overweight or obesity preschoolers showing significantly lower than their normal weight group. After adjusting for age, gender and season, family economic status, guardian educational level and time spent outdoors, the odds of vitamin D deficiency and insufficiency in overweight or obesity in preschoolers were 1.025 (95 % Cl: 1.002-1.174), 1.218 (95 % Cl: 1.099-1.708), respectively.</p><p><strong>Conclusions: </strong>From 2021 to 2023, there was no significant change in the incidence of overweight or obesity among preschool children in Beijing. Furthermore, the rate of vitamin D deficiency or insufficiency decreased year by year. Vitamin D deficiency or insufficiency associates with factors such as age, season of the year, and time spent outdoors, and there is an association between overweight or obesity and vitamin D status among preschoolers.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630900","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 rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.","authors":"Aikaterini Mastoropoulou, Andrew H Lane","doi":"10.1515/jpem-2024-0321","DOIUrl":"10.1515/jpem-2024-0321","url":null,"abstract":"<p><strong>Objectives: </strong>We describe a male with adrenal hypoplasia congenita (AHC) caused by a novel mutation in <i>NR0B1</i>, who was noted at 9 months of age to have central precocious puberty (CPP).</p><p><strong>Case presentation: </strong>A 3-week-old full-term male presented with hypothermia and lethargy, and a 0.3 kg weight loss since birth. Labs were consistent with adrenal crisis, he was stabilized with stress dose hydrocortisone (HC), insulin, and antibiotics, and he was admitted to the Pediatric Intensive Care Unit. Subsequent labs revealed primary adrenal insufficiency with abdominal ultrasound remarkable for nonvisualization of the adrenal glands. Genetic testing identified a novel pathogenic c.707G>A [p.Trp236ter] nonsense variant in the DNA-binding domain of <i>NR0B1</i> (DAX-1) confirming AHC. The patient was discharged with HC, fludrocortisone, and sodium supplementation with good tolerance and interval weight gain and normal electrolytes. At 9 months of age, the patient developed signs of precocious puberty, which failed to self-resolve or diminish with increased dosing of HC, and by the age of 15 months, he was treated with leuprolide acetate.</p><p><strong>Conclusions: </strong>Historically, hypogonadotropic hypogonadism has been observed in 76 % of adolescent patients with AHC who have alterations in <i>NR0B1</i>. CPP has been infrequently described in AHC, and the natural history and management of CPP in this setting is not established. Our observations may contribute to the understanding of factors influencing normal and abnormal puberty in infants. Increased awareness of the possibility of CPP in AHC will aid clinicians in the earlier clinical and laboratory detection of this complication.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"1086-1090"},"PeriodicalIF":1.3,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523540","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}