Hormone Research in Paediatrics最新文献

{"title":"The Endocrine Chameleon: Expanding the Phenotype of Pseudohypoparathyroidism 1A in Infancy.","authors":"Martin Munteanu, Elisabeth Resch, Victor Bildheim, Sabine Hoffjan, Bernhard Erdlenbruch, Agnès Linglart, Corinna Grasemann","doi":"10.1159/000543167","DOIUrl":"10.1159/000543167","url":null,"abstract":"<p><strong>Introduction: </strong>Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating parathyroid hormone (PTH)/PTHrP-signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature, and osteoma cutis. More complex and very early manifestations have also been reported. Neonatal complications may indicate a more severe course of the disease. Here, we report 3 patients with heterozygous GNAS variants and infancy onset of iPPSD2/PHP1A.</p><p><strong>Case presentations: </strong>Patient 1 is a 15-month-old boy who presented with severe chronic noninfectious diarrhea and elevated thyroid-stimulating hormone (TSH) beginning at 1 month of age, leading to life-threatening failure to thrive. Patient 2 is a 4-year-old boy with a history of bronchopulmonary dysplasia as well as neonatal-onset severe pulmonary complications, including critical pulmonary bleeding and recurring pulmonary infections and TSH elevation. Patient 3 is a 4-year-old girl who exhibited signs of PTH resistance and progressive osteoma cutis at the age of 1-2 weeks and obesity at the age of 3 months.</p><p><strong>Conclusion: </strong>The phenotypic spectrum of iPPSD2/PHP1A in neonates and infants may include severe gastrointestinal, pulmonary, and endocrine manifestations, which may delay diagnosis if not recognized as a spectrum disorder of Gsα deficiency. The cases support the hypothesis that early-life manifestations may indicate a more complicated course of the disease. Elevated PTH or TSH in infants with unclear symptoms or conditions should prompt evaluation for disorders of the iPPSD spectrum. In the absence of reliable predictors for the individual courses of PHP1A, in-depth clinical screening for possible manifestations beyond the classical spectrum is warranted even in infancy.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970581","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":"Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1.","authors":"Winifred Sigal, Kara E Boodhansingh, Arupa Ganguly, Lauren M Mitteer, Charles A Stanley, Diva D De León","doi":"10.1159/000542552","DOIUrl":"10.1159/000542552","url":null,"abstract":"<p><strong>Introduction: </strong>This is a report of a child with congenital hyperinsulinism associated with a loss-of-function variant in KCNE1. KCNE1 encodes a human potassium channel accessory (beta) subunit that modulates potassium channel Kv7.1 (encoded by KCNQ1). Loss-of-function pathogenic variants in either the KCNQ1 or KCNE1 genes result in long QT syndrome by causing prolongation in the action potential duration at the cellular level. In addition to long QT syndrome, the phenotype associated with loss-of-function pathogenic variants in KCNQ1 is characterized by postprandial hyperinsulinemic hypoglycemia.</p><p><strong>Case presentation: </strong>Clinical data for the proband were extracted from the medical records. The proband presented with fasting hypoglycemia due to hyperinsulinism in early childhood as well as postprandial hypoglycemia triggered by carbohydrates and by protein. Whole-exome sequencing was undertaken in genomic DNA isolated from proband and both parents. Whole-exome sequencing revealed a variant in KCNE1 inherited from the father, who also has a history of hyperinsulinism. Both the patient and father were subsequently diagnosed with long QT syndrome. The proband and father underwent phenotype testing including fasting test, oral glucose tolerance test, oral protein tolerance test, and exercise tolerance test.</p><p><strong>Conclusions: </strong>This case illustrates that loss-of-function variants in KCNE1, similar to KCNQ1, are associated with a cardiac and a beta cell phenotype, and thus, this patient population should be screened for hypoglycemia, particularly in the postprandial state.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142948125","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":"Metabolic and Bariatric Surgery in Adolescents: A Single-Center Study of Efficacy and Outcome Predictors.","authors":"Reem Hassan Beck, Imrana Afrooz, Mohammed Suhail Masalawala, Rama Watad, Talat Al Shaban, Asma Deeb","doi":"10.1159/000543383","DOIUrl":"10.1159/000543383","url":null,"abstract":"<p><strong>Introduction: </strong>Some adolescents undergoing metabolic and bariatric surgery (MBS) have suboptimal responses to surgery, particularly over the longer term. This study aimed to quantify changes in weight loss over time in adolescents undergoing MBS and identify preoperative predictors of weight loss.</p><p><strong>Methods: </strong>This was a prospective, observational cohort study of 73 adolescents (12-19 years) living with obesity undergoing MBS. Absolute and relative changes in anthropometric and biochemical parameters were evaluated up to 30 months. Changes in anthropometric measures were assessed using a mixed residual maximal likelihood model. Univariable and multivariable logistic regression were used to identify predictors of a >35.0% reduction in BMI z-score from baseline to 12 months. Predictive accuracy was assessed by area under the receiver operating characteristics analysis.</p><p><strong>Results: </strong>Most patients (87.7%) underwent laparoscopic sleeve gastrectomy (12.3% underwent laparoscopic sleeve bypass). Weight, weight z-score, BMI, and BMI z-score significantly decreased over 30 months (p < 0.001) up to a -53.8% relative change in BMI z-score at 30 months. There was a significant increase (p = 0.02) in high-density lipoprotein cholesterol and a significant decrease in triglycerides (p = 0.0001) and ALT (p = 0.0004) after surgery. A higher preoperative BMI was associated with a reduced odds (OR 0.89, 95% CI 0.79-0.97, p = 0.03) of a >35% reduction in BMI z-score at 12 months. A baseline BMI >52.6 kg/m2 had a sensitivity of 100% and specificity of 40.6% for detecting a >35.0% postoperative decrease in BMI z-score.</p><p><strong>Conclusion: </strong>MBS results in sustained weight loss in adolescents. A high preoperative BMI predicts resistance to optimal weight loss after surgery and argues against delaying surgery once eligibility thresholds are met.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142948129","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":"Diagnostic Utility of Low-Dose Cosyntropin Stimulation Test for Central Adrenal Insufficiency.","authors":"Cesare Morgante, Kanthi Bangalore Krishna, Erika McCann, Selma Feldman Witchel, Wassim Chemaitilly, Luigi Garibaldi, Emir Tas","doi":"10.1159/000543394","DOIUrl":"https://doi.org/10.1159/000543394","url":null,"abstract":"<p><strong>Introduction: </strong>Consensus regarding the diagnostic cutoff values for cortisol responses to low-dose cosyntropin testing (LDT) and its specific advantages over standard high-dose test (HDT) in assessing the pituitary-adrenal axis in children is lacking.</p><p><strong>Methods: </strong>In a retrospective study, patients who underwent sequential LDT and HDT were classified into two groups depending on the reason for testing: prolonged systemic glucocorticoid exposure (group 1) or suspected hypothalamic-pituitary dysfunction (group 2). Sensitivity and specificity analysis of varying cortisol levels during LDT in diagnosing adrenocorticotropic hormone (ACTH) deficiency (ACTHD) were calculated via the receiver operating characteristic curve analysis against the reference diagnostic test HDT. ACTHD was defined as peak cortisol level <18 μg/dL (500 nmol/L) in HDT.</p><p><strong>Results: </strong>This analysis included 112 patients, of whom 20 were diagnosed with ACTHD. There was a strong correlation between peak cortisol levels during LDT and HDT (r = 0.93, p < 0.001). A cortisol peak of 13.5 μg/dL (372 nmol/L) during the LDT had the best diagnostic accuracy (Sensitivity 90%, Specificity 90%: area under the curve 0.973 [95% CI: 0.945-1, p < 0.001]) in the entire cohort. A higher cortisol level was needed for group 1 to achieve comparable performance to group 2 (14.5 vs. 11.5 μg/dL [317 nmol/L], respectively).</p><p><strong>Conclusions: </strong>The strong correlation between cortisol responses in the LDT and HDT suggests that, when appropriately lower cutoff values are applied, the LDT provides results comparable to the HDT.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364424","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":"Rarity of Congenital Adrenal Hyperplasia in Children Born Very Preterm: Possible Mechanism and Implication for Newborn Screening.","authors":"Asmahane Ladjouze, Yasmina Ouarezki, Adel Djermane, Sakina Kherra, Meriem Bensalah, Kahina Mohammedi, Dalila Douiri, Nourredine Boutaghane, Zair Bouzerar, Guy Van Vliet","doi":"10.1159/000543430","DOIUrl":"https://doi.org/10.1159/000543430","url":null,"abstract":"<p><strong>Introduction: </strong>Screening for congenital adrenal hyperplasia (CAH) through the measurement of 17-hydroxyprogesterone on the neonatal blood spot aims to: (a) prevent neonatal deaths; (b) allow earlier identification and thereby decrease the severity of the initial salt-wasting episode; and (c) shorten the time during which a severely virilized genetic female newborn may be assigned the male sex. It is now practiced in the majority of high-income countries, although the positive predictive value of the test is very low in infants born preterm, who seem to be infrequently affected. In almost all low- and middle-income countries, it has not yet been implemented.</p><p><strong>Methods: </strong>To determine if it is justified in such a country, we evaluated the prevalence of premature birth and the sex ratio in a cohort of 299 singleton Algerian infants diagnosed with CAH.</p><p><strong>Results: </strong>Only 4% were born before 37 weeks of gestational age, less than the 14.3% observed in the general Algerian population. None was born before 34 weeks of gestation. The SW form of the disease was confirmed in 93 boys and 139 girls.</p><p><strong>Conclusion: </strong>We speculate that the combination of a high production of 17-hydroxyprogesterone with a low production of cortisol by the fetus with CAH accounts for the rarity of very preterm birth in this population. We suggest that newborn screening for CAH is necessary in Algeria to equalize the sex ratio but that it could be restricted to neonates born after 32 weeks of gestation, thereby possibly improving the cost-effectiveness ratio of this intervention.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":2.6,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669541","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":"PedsENDO Discovery: A Novel Program to Address the Pediatric Endocrinology Workforce Shortage.","authors":"Alissa Roberts, Janel Hunter, Doris Fadoju, Marissa J Kilberg, Ellen K Grishman","doi":"10.1159/000536622","DOIUrl":"10.1159/000536622","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"116-117"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681027","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":"31st Annual Meeting of the Sociedad Latinoamericana de Endocrinología pediátrica (SLEP) 2024, Santiago, Chile, September 11-14, 2024 - Abstracts.","authors":"","doi":"10.1159/000543821","DOIUrl":"https://doi.org/10.1159/000543821","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":"98 Suppl 1","pages":"1-40"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414116","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":"Cortisol Dynamics, Quality of Life, and Fatigue following Traumatic Brain Injury in Childhood.","authors":"Nikolaos Daskas, Peta Sharples, Marcus Likeman, Stafford Lightman, Elizabeth Crowne","doi":"10.1159/000535231","DOIUrl":"10.1159/000535231","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Traumatic brain injury (TBI) is a leading cause of acquired neurological morbidity. The prevalence of post-traumatic hypopituitarism and associated morbidity after childhood TBI is unclear. Our study investigated long-term hypothalamus-pituitary-adrenal (HPA) axis function, in a prospective childhood TBI and control cohort, using measures of cortisol/cortisone secretion (physiological and stimulated), HPA axis feedback, and exploring associations with fatigue, depression, and quality of life (QoL) outcomes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;All TBI participants had data concerning severity and mechanism of TBI. All groups had clinical assessment, pituitary/brain MRI, questionnaire measures of QoL, fatigue, depression, and salivary cortisone profiles including dexamethasone suppression test. In addition, participants with moderate/severe TBI had ethical approval for baseline endocrine blood tests, overnight 12-h venous sampling of cortisol and growth hormone, and stimulated HPA axis evaluation with an insulin tolerance test (ITT).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Seventy-two participants with moderate/severe (n = 31, age 19.8 ± 4.2 years) or mild TBI (n = 24, age 17.8 ± 5.1 years) and matched controls (n = 17, age 18.5 ± 5.5 years) took part. Time post-TBI was 6.8-10.8 years. Baseline endocrine tests confirmed normal thyroid and posterior pituitary function. One female with moderate/severe TBI had hypogonadism. Pituitary neuroimaging was normal in all participants. In 2/25 ITT and 9/22 overnight serum profiles, peak cortisol was &lt;500 nmol/L. The two participants with suboptimal ITT cortisol response (392 and 483 nmol/L) also had low peak spontaneous serum levels (227 and 447 nmol/L, respectively). Salivary cortisone profiles showed preservation of HPA axis circadian rhythm and suppression with dexamethasone in all but one TBI participant. TBI participants had higher morning salivary cortisone levels compared to controls. Fatigue was reported by 20/46 TBI participants but only 1/14 controls. Fatigue was not associated with stimulated (ITT) or spontaneous (overnight profile) cortisol; however, one TBI participant with severe fatigue had a suboptimal ITT cortisol response. Specific QoL attributes of health state (cognition, memory) were impaired in TBI participants compared to controls.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Although not as prevalent as previously reported, HPA axis dysfunction does occur in survivors of childhood TBI, confirming the need for endocrine surveillance. However, in most of our paediatric TBI survivors assessed 7-11 years post-TBI, HPA function and circadian rhythmicity were preserved or had recovered. Chronic fatigue is a common concern post-TBI, but in the majority, it is not associated with frank HPA axis dysfunction. Morning salivary cortisone levels were higher in TBI survivors (who have a high prevalence of fatigue) compared to healthy controls, despite the recognised association of chroni","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"31-39"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139542281","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":"Congenital Central Hypothyroidism Caused by Novel Variants in IGSF1 Gene: Case Series of 3 Patients.","authors":"Helen MacGloin, Nadia Schoenmakers, Catherine Moorwood, Charles R Buchanan, Ved Bhushan Arya","doi":"10.1159/000536385","DOIUrl":"10.1159/000536385","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Loss of function mutations in the immunoglobulin superfamily member 1 (IGSF1) gene cause X-linked central hypothyroidism and represent the most common genetic cause of central hypothyroidism. In addition to central hypothyroidism, some patients with IGSF1 deficiency have hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macro-orchidism. Here, we describe a case series of 3 patients with central hypothyroidism caused by two novel IGSF1 mutations.</p><p><strong>Case presentation: </strong>Three males (including two siblings) were diagnosed with central hypothyroidism between 0.06 and 1.5 years of age. Additional features included hypoprolactinemia, normal cortisol and growth hormone - insulin like growth factor 1 axis, high body mass index, birth weight greater than 0 SDS, and isolated speech delay. Genetic testing identified two novel IGSF1 mutations [(c.1829G>A, p.W610* and c.3692G>A, p.(Cys123Tyr)]. Both variants have not been reported in the gnoMAD database (∼90,000 individuals) and are predicted to be deleterious.</p><p><strong>Conclusions: </strong>Loss-of-function mutations in IGSF1 represent the most common genetic cause of central hypothyroidism. Detailed phenotyping of IGSF1 deficiency from extensive case series has led to the formulation of recommendations for clinical management of these patients. We have highlighted the potential adverse consequences of delayed treatment of CCH (speech delay).</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"89-95"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722341","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":"Multi-Stakeholder Opinion Statement on the Care of Individuals Born with Differences of Sex Development: Common Ground and Opportunities for Improvement.","authors":"Martine Cools, Earl Y Cheng, Joanne Hall, Julie Alderson, Anne-Marie Amies Oelschlager, Adam H Balen, Yee-Ming Chan, Mitchell E Geffner, Claus H Gravholt, Tülay Güran, Piet Hoebeke, Peter Lee, Ellie Magritte, Dina Matos, Ken McElreavey, Heino F L Meyer-Bahlburg, Richard C Rink, Alexander Springer, Konrad M Szymanski, Eric Vilain, Jo Williams, Katja P Wolffenbuttel, David E Sandberg, Ramnath Subramaniam","doi":"10.1159/000536296","DOIUrl":"10.1159/000536296","url":null,"abstract":"<p><strong>Background: </strong>In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities.</p><p><strong>Summary: </strong>This article is an opinion statement, resulting from in-depth discussions and reflection among clinicians, patients, and family support organizations based in the USA and Europe, where we seek areas of common ground and try to identify opportunities to further develop resources. The product of these conversations is summarized in 10 panels. The corresponding sections provide additional discussion on some of the panel items.</p><p><strong>Key messages: </strong>Participants identified areas of agreement, gained a deeper understanding of the reasons behind disagreements on certain matters, and identified the necessary steps to foster future consensus. We offer preliminary recommendations for guiding clinical management and resource allocation. By promoting a broader consensus, we aim to enhance the quality of care and well-being for individuals of all ages who have a DSD.</p><p><strong>Background: </strong>In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities.</p><p><strong>Summary: </strong>This article is an opinion statement, resulting from in-depth discussions and reflection among clinicians, patients, and family support organizations based in the USA and Europe, where we seek areas of common ground and try to identify opportunities to further develop resources. The product of these conversations is summarized in 10 panels. The corresponding sections provide additional discussion on some of the panel items.</p><p><strong>Key messages: </strong>Participants identified areas of agreement, gained a deeper understanding of the reasons behind disagreements on certain matters, and identified the necessary steps to foster future consensus. We offer preliminary recommendations for guiding clinical management and resource allocation. By promoting a broader consensus, we aim to enhance the quality of care and well-being for individuals of all ages who have a DSD.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"226-242"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681028","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}