Hormone Research in Paediatrics最新文献

{"title":"Unveiling the Link: Obesity, Diet, Hypothalamic Inflammation, and Central Precocious Puberty - Recent Insights and Implications.","authors":"Galateia Stathori, Anastasia-Maria Tzounakou, Nikolaos F Vlahos, Evangelia Charmandari, Georgios Valsamakis","doi":"10.1159/000544837","DOIUrl":"10.1159/000544837","url":null,"abstract":"<p><strong>Background: </strong>Childhood obesity is on the rise globally, raising concerns among the medical community. The phenomenon is closely linked to high-fat diets. Concurrently, the prevalence of central precocious puberty (CPP) is increasing. Recent evidence demonstrates that obesity and high-fat diets induce inflammation in the mediobasal hypothalamus in humans, a region housing both the primary appetite-regulating centers and the GnRH neurons. Early activation of GnRH neurons is implicated in CPP. The proximity of these hypothalamic sites, exposed to obesity-/diet-induced neuroinflammation, coupled with the positive association between CPP, obesity, and high-fat diets, prompts exploration into the potential involvement of hypothalamic inflammation (HI) in CPP occurrence.</p><p><strong>Summary: </strong>This article delves into the molecular mechanisms through which HI may contribute to CPP in obese and lean girls, based on existing literature. We present evidence suggesting that HI could activate the gonadotropic axis by influencing cytokines and prostaglandins production, BDNF, and potentially phoenixin.</p><p><strong>Key messages: </strong>HI emerges as a potential pathophysiological mechanism linking obesity, high-fat diets, and CPP. Further research is imperative to elucidate the relationship between HI and CPP, providing insights into the origins of CPP, often termed as idiopathic.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial Non-Autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor.","authors":"Kazuhiro Shimura, Yosuke Ichihashi, Kiyomi Abe, Tomohiro Ishii, Tomonobu Hasegawa, Satoshi Narumi","doi":"10.1159/000544836","DOIUrl":"10.1159/000544836","url":null,"abstract":"<p><strong>Introduction: </strong>Non-autoimmune hyperthyroidism (NAH) is a rare genetic disorder caused by germline-activating variants in the TSH receptor (TSHR) gene. While most NAH-related TSHR variants are located in the seven-transmembrane domain (7TMD), three variants (p.Leu267Phe, p.Ser281Asn, and p.Asn406Ser) have been identified in the extracellular domain (ECD), with p.Leu267Phe previously not showing constitutively active in vitro.</p><p><strong>Methods: </strong>We searched for TSHR variants in a Japanese family with NAH using PCR-based direct sequencing. We created three ECD variants (p.Leu267Phe, p.Ser281Asn, and p.Asn406Ser) and a series of variants in which Leu267 was mutated to 18 amino acids other than Leu and Phe. Based on the cryo-electron microscopic structures, we evaluated the structure-function relationship of TSHR. We compared their cAMP-producing capacities to WT-TSHR in the luciferase activity assay using HEK293 cells. Western blot and fluorescence immunostaining were performed using HA-tagged TSHR vectors to compare Leu267Phe-TSHR with WT-TSHR.</p><p><strong>Results: </strong>A heterozygous TSHR variant (p.Leu267Phe) was identified. Comparison of the cryo-electron microscopy structures of the activated and inactivated TSHRs revealed a significant change in the ECD structure around Leu267. The ligand-independent cAMP-producing capacities compared to WT-TSHR were 238 ± 20% (mean ± SEM) for Leu267Phe. Of all 19 possible variants created through systematic mutagenesis, only Leu267Phe-TSHR and Leu267Tyr-TSHR exhibited significantly higher ligand-independent cAMP-producing capacities. Immunoblotting and fluorescence immunostaining showed that the Leu267Phe variant did not affect protein expression levels and intracellular localization of TSHR.</p><p><strong>Discussion/conclusion: </strong>Leu267Phe-TSHR causes NAH. Substituting Leu267 to aromatic amino acids may shift the equilibrium of the TSHR state toward activation.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.6,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypothyroidism in Infants after Enteral Administration of Iodinated Contrast Media: A Rare but Serious Complication.","authors":"Adinda G H Pijpers, Nitash Zwaveling-Soonawala, Joost van Schuppen, Wes Onland, A S Paul van Trotsenburg, L W Ernest van Heurn, Joep P M Derikx, Christiaan F Mooij","doi":"10.1159/000544706","DOIUrl":"10.1159/000544706","url":null,"abstract":"<p><strong>Introduction: </strong>Excessive exposure to iodine early in life can cause primary hypothyroidism by failure to escape the Wolff-Chaikoff effect. Although reported for intravenous iodinated contrast medium (ICM) and topical iodine, prospective studies on thyroid function after enterally administered ICM are lacking. This study aimed to determine the occurrence of hypothyroidism after enteral ICM administration in young infants.</p><p><strong>Methods: </strong>Prospective cohort study was conducted between November 1st, 2022, and July 1st, 2024, in infants <6 months of age, who underwent radiological examination (mostly abdominal X-ray, AXR) with enteral ICM administration. Stasis of contrast was evaluated by AXR on day two after ICM administration. Serum thyroid-stimulating hormone (TSH) and free thyroxine (fT4) levels were measured around days 5 and 10 after ICM administration and, if abnormal, repeated on day 15.</p><p><strong>Results: </strong>Thirty-three patients were included. Seventeen patients (51.5%) were born preterm. Stasis of ICM after 2 days was present in 12 of 28 patients (42.9%). In 5 male patients (15.2%), abnormal TSH or fT4 levels were observed during follow-up. One of these 5 patients developed ICM-induced hypothyroidism requiring treatment. In 2 cases, physiological escape of the Wolff-Chaikoff effect was seen. In 2 cases, non-thyroidal illness/hypothyroxinemia of prematurity was observed. Four of the 5 patients with abnormal TSH or fT4 levels were born preterm.</p><p><strong>Conclusion: </strong>In this study, 1 patient developed primary hypothyroidism requiring levothyroxine treatment after enteral ICM administration. We recommend monitoring of thyroid function in infants younger than 6 months after enteral ICM administration, especially in preterm born infants.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-6"},"PeriodicalIF":2.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report and Literature Review: A 46,XX Infant with Atypical Genitalia Diagnosed with Primary Ovarian Insufficiency Caused by HFM1 Gene Variants.","authors":"Zheng Yuan, Ming Cheng, Xi Meng, Bingyan Cao, Chunxiu Gong","doi":"10.1159/000544052","DOIUrl":"10.1159/000544052","url":null,"abstract":"<p><strong>Introduction: </strong>Primary ovarian insufficiency (POI) due to single-gene variant is classified as a 46,XX difference of sexual development. Variants in the Helicase Family Member 1 (HFM1) gene are associated with POI in females and non-obstructive azoospermia in males.</p><p><strong>Case presentation: </strong>We described a case of POI with unique genital characteristics, including clitoromegaly, fusion of the labia majora, an opening of the urethral meatus at the perineum, and the absence of the vaginal opening. Hormonal analysis revealed hypergonadotropic hypogonadism. Genetic testing identified two variants in the HFM1 gene: c.1978-2A>C and c.2681-3T>A. A comprehensive analysis of published cases with HFM1 gene variations was conducted to summarize the range of variants and phenotypes associated with HFM1 gene mutations.</p><p><strong>Conclusion: </strong>This study connects HFM1 gene variants to external genital malformations, expanding the spectrum of phenotypes related to HFM1 mutations. Clinicians should consider the possibility of POI in 46,XX female infants with atypical genitalia and perform genetic testing for HFM1 to avoid leaving out the diagnosis.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New Features in a Rare Monogenic Obesity: Carboxypeptidase E Deficiency.","authors":"Dicle Canoruc Emet, Ekim Helhel, Oytun Portakal, Nazlı Gonc","doi":"10.1159/000543524","DOIUrl":"10.1159/000543524","url":null,"abstract":"<p><strong>Introduction: </strong>Carboxypeptidase E (CPE) is an enzyme involved in the neuropeptides/hormones processing. Its deficiency is associated with endocrinopathies comparable to those caused by proprotein convertase 1/3(PC1/3) deficiency. In this case report, we expand the clinical features of CPE deficiency by examining the index case's clinical/laboratory results, which are also indicative of PC1/3 deficiency.</p><p><strong>Case presentation: </strong>The index case, 13.5 years old, had obesity, central hypothyroidism, developmental delay, hypogonadotropic hypogonadism, enuresis. A 4-hour oral glucose tolerance test revealed glucose intolerance with a partial insulin deficiency and postprandial hypoglycemia. Proinsulin level was high. Partial central diabetes insipidus was verified with a water deprivation test. Administration of desmopressin successfully alleviated the symptoms of polyuria-polydipsia and enuresis. Brain-derived-neurotrophic-factor level, which might be linked to ID, was low. The 8-month-old sibling had central hypothyroidism and hypotonicity but has not yet developed obesity.</p><p><strong>Conclusion: </strong>Patients with CPE deficiency should undergo evaluation not only for hypothyroidism and hypogonadism but also for glucose and water metabolism disorders. The presentation of new cases may lead to the discovery of novel findings, and the identification of other pituitary hormone deficiencies.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program.","authors":"Valérie Cormier-Daire, Thomas Edouard, Bertrand Isidor, Swati Mukherjee, Jeanne M Pimenta, Massimiliano Rossi, Elise Schaefer, Sabine Sigaudy, Geneviève Baujat","doi":"10.1159/000543743","DOIUrl":"10.1159/000543743","url":null,"abstract":"<p><strong>Introduction: </strong>Vosoritide is the first approved treatment for achondroplasia, a rare genetic disorder that results in disproportionate short stature. In clinical trials, vosoritide has shown a positive safety profile and increased height in children with achondroplasia. This article shares the organizational structure, initiation, follow-up protocol, and findings of a vosoritide early access program (EAP) conducted in France.</p><p><strong>Methods: </strong>Participants aged ≥5 years with achondroplasia and open epiphyses were eligible for enrollment in the EAP, conducted by six centers within the French national rare disease reference center for constitutional bone diseases network, from 24 June 2021 to 13 December 2022. Treatment consisted of once-daily subcutaneous vosoritide 15 μg/kg. Safety and effectiveness (height, height Z-score, annualized growth velocity [AGV]) data over a 12-month follow-up period were collected.</p><p><strong>Results: </strong>Among 62 enrolled participants, 57 started treatment with vosoritide within the EAP period with 38 completing at least 6 months and 22 at least 12 months of treatment. After 12 months of treatment, participants achieved a mean AGV of 6.0 cm/year, absolute gain in height of 6.2 cm, and increase in height Z-score referenced to the average stature population of 0.38. All adverse events were mild (mainly injection site reactions) and there were no discontinuations related to vosoritide treatment.</p><p><strong>Conclusions: </strong>In this first use of vosoritide in a real-world setting, vosoritide had a positive benefit-risk ratio similar to that observed in vosoritide clinical trials. The French EAP provides a model that may be adapted and adopted for use in other countries.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.6,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Demographic Factors Associated with a Delayed Thyroid-Stimulating Hormone Rise in Infants with Congenital Hypothyroidism: A Retrospective Review of a 10-Year Cohort in Indiana.","authors":"Preet K Matharu, Louis J Martin, Erica A Eugster","doi":"10.1159/000543744","DOIUrl":"10.1159/000543744","url":null,"abstract":"<p><strong>Introduction: </strong>The objective of our study was to determine the prevalence of a delayed thyroid-stimulating hormone (TSH) rise in infants with congenital hypothyroidism (CH) born in Indiana. Additionally, we sought to determine whether there are differences in clinical or demographic factors associated with this delayed cohort compared to those seen in infants detected early.</p><p><strong>Methods: </strong>Newborn screen (NBS) results were collected for all cases of CH diagnosed between 2012 and 2022. Infants with a delayed TSH rise had an initial normal NBS followed by an abnormal NBS, and a confirmatory serum TSH value >20 mU/mL. Binary logistic regression was performed to identify if demographic and clinical factors (gestational age, birth weight, race, sex, ethnicity, and maternal age) were associated with a delayed rise in TSH. Linear regression was used to assess the relationship between TSH concentration versus selected factors and timing of diagnosis.</p><p><strong>Results: </strong>Seventy-three infants met our inclusion criteria for a delayed diagnosis (16% prevalence). Lower gestational age and birth weight Z scores were associated with higher odds of a delayed TSH rise (each p ≤ 0.001). Lower TSH values were also found to be associated with a delayed diagnosis (p = 0.010).</p><p><strong>Conclusion: </strong>Our study confirms that prematurity is a significant contributing factor for having a delayed diagnosis of CH. In contrast, other demographic factors such as race, sex, ethnicity, and maternal age do not appear to be associated with a delayed diagnosis. Other post-natal factors that may be associated with an increased risk of a delayed rise in TSH in infants with CH require further exploration.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-5"},"PeriodicalIF":2.6,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Automated Insulin Delivery Systems for Treatment of Type 1 Diabetes: Strategies for Optimal Performance.","authors":"Revital Nimri, Moshe Phillip","doi":"10.1159/000543654","DOIUrl":"10.1159/000543654","url":null,"abstract":"<p><strong>Background: </strong>The use of automated insulin delivery (AID) devices is now widespread in the management of type 1 diabetes (T1D), being used for younger and older children, adolescents, and adults. The integration of insulin pumps with continuous glucose monitors and smart management software in AID systems has significantly improved glycemic management compared to the separate application of each diabetes technology. The efficacy of AID systems has been demonstrated in randomized controlled trials (RCTs), but it is their application in real-world studies that fully demonstrates their impact for people with T1D.</p><p><strong>Summary: </strong>Available AID systems differ in how they are initiated and how they calculate and deliver insulin, which dictates the parameters that can be adjusted for each system. Here, we discuss how each system can be best optimized for each individual user, taking into account their activities of daily life, including mealtimes and physical activity, with a focus on commercially available systems for pediatrics (Medtronic MiniMed 780 G, Tandem Control-IQ, Omnipod 5, CamDiab CamAPS, and Beta Bionics iLet. Another FDA-cleared AID is the Tidepool Loop, which, although not yet in real-world on-label use, is currently utilized in its open-source format). We also look at the essential process of initiating AID therapy with these devices and how to navigate the important first steps, once the decision to start using an AID system has been made.</p><p><strong>Key messages: </strong>AID systems should be considered for all individuals with T1D who wish to use them, with a strong emphasis on ensuring equitable access to this technology. Achieving success with AID requires comprehensive guidance, education, and support with a focus on core diabetes management principles. These systems are relatively easy to initiate, from any prior therapy and at any time, including shortly after diagnosis, using personalized, and appropriately proactive settings. Effective meal management remains crucial for achieving optimal glycemic control, while regular follow-up and timely adjustments to AID settings are essential for maintaining their effectiveness over time.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-13"},"PeriodicalIF":2.6,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recovery from Atrophic Autoimmune Thyroiditis in a Child: Thyroid Stimulation-Blocking Antibody as a Prognostic Marker.","authors":"Chieko Kusano, Naoaki Hori, Tomonobu Hasegawa, Satoshi Narumi","doi":"10.1159/000543200","DOIUrl":"10.1159/000543200","url":null,"abstract":"<p><strong>Introduction: </strong>Atrophic autoimmune thyroiditis (AAT) is a form of autoimmune hypothyroidism characterized by the absence of a goiter. Thyroid stimulation-blocking antibody (TSBAb) has been detected in a subset of pediatric AAT cases. Although the disappearance of TSBAb has been related with the recovery of thyroid function in adult AAT cases, similar outcomes have not been documented in pediatric cases.</p><p><strong>Case presentation: </strong>A 2-year-old Japanese boy presented for evaluation of stunted growth from 1 year 10 months of age. Tests for congenital hypothyroidism were negative on newborn screening, and he had no significant medical history. However, he showed symptoms of hypothyroidism (inactiveness, hair loss, dry skin), and primary hypothyroidism was confirmed by blood test (serum TSH level, 818 mU/L; serum free T4 level, <0.40 ng/dL). The patient exhibited a unique antibody profile: positive for TSH receptor antibody (TRAb) and TSBAb and negative for anti-thyroglobulin antibody (TgAb) and anti-peroxidase antibody (TPOAb). He was treated with levothyroxine, after which his growth was normalized. During the 8-year follow-up, the patient's TSBAb levels decreased, allowing for the discontinuation of levothyroxine therapy.</p><p><strong>Conclusion: </strong>We reported the case of a 2-year-old boy diagnosed with AAT who presented with a characteristic antibody profile, negative for TgAb and TPOAb, but positive for TRAb and TSBAb. During 8 years of follow-up, TSBAb seroconversion to negative was observed, leading to treatment discontinuation at age 10 years. This case suggests that monitoring of TSBAb after a diagnosis of AAT may be used to determine treatment discontinuation even in children.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-5"},"PeriodicalIF":2.6,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contribution of Clinical and Biological Mini-Puberty and Genetic Analysis in 57 46,XY Differences of Sex Development: A Monocentric Retrospective Cohort.","authors":"Chloé Marie, Lucie Tosca, Jérôme Bouligand, Abd-El-Kader Ait-Tayeb, Severine Trabado, Muriel Houang, Dinane Samara-Boustiani, Claire Bouvattier","doi":"10.1159/000542580","DOIUrl":"10.1159/000542580","url":null,"abstract":"<p><strong>Introduction: </strong>Differences of sex development (DSD) is a group of rare congenital conditions defined by chromosomal, gonadal and/or phenotypic discordance or atypical sex. The mini-puberty, corresponding to the transient postnatal activation of the hypothalamic-pituitary-gonadal axis, is an important diagnosis window in the clinical workup of infants with DSD. First objective was to compare clinical data as well as hormone levels during minipuberty between patients with and without a genetic diagnosis. Secondary objective was to assess the positive predictive value of specific hormone levels at M2, which represents the mid-point of mini-puberty, to differentiate between patients with and without a genetic diagnosis by NGS.</p><p><strong>Methods: </strong>Our study included 57 children with 46,XY DSD born between September 2010 and August 2022 who had results from hormone level measurements during mini-puberty and a next-generation sequencing DSD gene panel.</p><p><strong>Results: </strong>From genetic testing, the diagnostic yield was 49%. Hormone analysis during mini-puberty demonstrated variations in anti-Müllerian hormone, inhibin B, follicle-stimulating hormone and luteinizing hormone levels, with specific patterns observed in certain DSD conditions. Notably, levels of follicle-stimulating hormone >4 IU/L, anti-Müllerian hormone <235 pmol/L, and inhibin B <189 pg/mL at 2 months of life were associated with a higher probability of a genetic diagnosis.</p><p><strong>Conclusion: </strong>This study proposes a less invasive diagnostic approach for 46,XY DSD children with palpable gonads at birth; it seems a single blood test around the second month of life for comprehensive analysis.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-15"},"PeriodicalIF":2.6,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}