Hormone Research in Paediatrics最新文献

{"title":"Neurodevelopmental Follow-Up of Children Born to Mothers with Graves' Disease and Neonatal Hyperthyroidism.","authors":"Francisca Grob, Amy Brown, Margaret Zacharin","doi":"10.1159/000539268","DOIUrl":"10.1159/000539268","url":null,"abstract":"<p><strong>Introduction: </strong>Neonatal hyperthyroidism, often caused by maternal Graves' disease (GD), carries potential neurodevelopmental risks for children. Excessive thyroid hormones during fetal development are linked to neurological issues like ADHD and epilepsy. However, the impact of transient neonatal hyperthyroidism is not well understood.</p><p><strong>Methods: </strong>In a retrospective study at the Royal Children's Hospital in Melbourne, 21 neonates with hyperthyroidism from mothers with GD were examined. Of these, the parents of 10 children consented to participate; thus, questionnaires assessing executive functions, behavior, and social communication were completed. The outcomes were compared to those of control subjects recruited from the community using standardized tools (BRIEF, SDQ, SCQ). The results were analyzed against socio-demographic factors, maternal, and neonatal health.</p><p><strong>Results: </strong>No significant demographic or clinical differences were found between study participants (n = 10) and non-participants (n = 11). Participants, compared to controls, showed similar family demographics but a higher proportion of control parents had university-level education (p = 0.003). Patients displayed more social (SCQ scores: 12.1 ± 2.5 vs. 6 ± 1.07, p = 0.008) and behavioral difficulties (SDQ scores: 10.2 ± 2.17 vs. 6.14 ± 1.03, p = 0.03), with increased executive function challenges (BRIEF scores indicating problem-solving and self-regulation difficulties). Significant effects of family living situation and partner education level on neurodevelopmental measures were noted, underscoring the influence of socio-demographic factors.</p><p><strong>Conclusions: </strong>These findings suggest neonatal hyperthyroidism might lead to subtle neurodevelopmental variations, with socio-economic elements and family dynamics possibly intensifying these effects. While most children did not show severe impairments, early detection and intervention are recommended. The research emphasizes the necessity for inclusive care approaches that consider socio-economic factors for children affected by neonatal hyperthyroidism.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"336-343"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140890879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"False-Negative Inferior Petrosal Sinus Sampling in Young-Onset Cushing Disease: What Happens Next.","authors":"Cristina Maschio, Jessica Weinberg, Meg Keil, Lola Saidkhodjaeva, Prashant Chittiboina, Richard Chang, Constantine A Stratakis, Christina Tatsi","doi":"10.1159/000533338","DOIUrl":"10.1159/000533338","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;False-negative results during inferior petrosal sinus sampling (IPSS) may complicate the diagnostic evaluation of patients with ACTH-dependent Cushing syndrome (CS). The management of these patients can be confusing for clinicians and lead to delayed management.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We studied patients with young-onset (&lt;21 years old) CD who underwent IPSS during their diagnostic evaluation. For all patients, diagnosis of CD was eventually confirmed based on histologic evaluation of a resected pituitary tumor or remission after transsphenoidal surgery.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;We recorded a rare incidence of false-negative IPSS results in 5 out of the 142 IPSS procedures (3.5%), performed in 4 unique patients. Patients with negative IPSS did not differ in demographic (age and sex) or biochemical (diurnal ACTH/cortisol or 24-hour urinary free cortisol) data from the remaining. Additional workup was performed in three of the four patients including evaluation for ectopic sources of CS and repeat IPSS. Two of these patients also received medical treatment for suppression of cortisol production. One patient decided to proceed with pituitary exploration without additional evaluation. All patients finally underwent surgery and achieved remission.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Discussion/conclusion: &lt;/strong&gt;In patients with CD, IPSS may rarely lead to false-negative results. Management of these patients usually includes screening for ectopic sources of ACTH/CRH secretion, repeating IPSS if ectopic workup is negative, and considering medical management until final diagnosis of the source of hypercortisolism is made.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;False-negative results during inferior petrosal sinus sampling (IPSS) may complicate the diagnostic evaluation of patients with ACTH-dependent Cushing syndrome (CS). The management of these patients can be confusing for clinicians and lead to delayed management.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We studied patients with young-onset (&lt;21 years old) CD who underwent IPSS during their diagnostic evaluation. For all patients, diagnosis of CD was eventually confirmed based on histologic evaluation of a resected pituitary tumor or remission after transsphenoidal surgery.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;We recorded a rare incidence of false-negative IPSS results in 5 out of the 142 IPSS procedures (3.5%), performed in 4 unique patients. Patients with negative IPSS did not differ in demographic (age and sex) or biochemical (diurnal ACTH/cortisol or 24-hour urinary free cortisol) data from the remaining. Additional workup was performed in three of the four patients including evaluation for ectopic sources of CS and repeat IPSS. Two of these patients also received medical treatment for suppression of cortisol production. One patient decided to proceed with pituitary exploration without additional evaluation. All patients finally underwent surgery and achieved remission.&lt;/p&gt;&lt;p&gt;&lt;stro","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"25-30"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11176263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138799396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum.","authors":"","doi":"10.1159/000542213","DOIUrl":"10.1159/000542213","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"119"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499390","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":"Successful Use of Metyrapone Suppositories in an Infant with Neonatal Cushing and McCune Albright Syndrome: A Case Report.","authors":"Diana-Alexandra Ertl, Gerda Ratzinger-Stoeger, Adalbert Raimann, Maria Anzengruber, Katharina Skoll, Franz Gabor, Michaela F Hartmann, Stefan A Wudy, Gabriele Hartmann","doi":"10.1159/000535266","DOIUrl":"10.1159/000535266","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Perinatal hypercorticism, regardless of its cause, has a high mortality or leads to life-long lasting complications. Some publications reported on the use of metyrapone in children with McCune Albright syndrome (MAS) and hypercorticism but also mentioned its poor tolerability.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Case presentation: &lt;/strong&gt;We present the case of a toddler in whom we diagnosed MAS based on pseudo-precocious puberty and hypercorticism at the age of 10 months. In light of hepatopathy, we decided to start the off-label treatment with metyrapone. Being aware of the challenges of this treatment with the only available product (gelatine capsule containing liquid metyrapone) and reports on local irritation and significant side effects after the oral and intrarectal administration of liquid metyrapone, diluted or undiluted, we decided to use the rectal application as suppositories. We started with the dose of 300 mg/m2/day (one administration every 6 h), with the intention to \"block and replace,\" using repeated measurements of serum morning and 23:00 cortisol, salivary cortisol, and 24-h urine steroid profile. After just 2 weeks, we discharged our patient with normal cortisol levels, without additional hydrocortisone substitution and with a total metyrapone dose of 900 mg/m2/day. Lipid profile and arterial pressure normalized, while growth velocity improved progressively.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;We present the first successful, long-term use of metyrapone as suppositories, with no adverse side effects and striking clinical and biochemical improvement.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Perinatal hypercorticism, regardless of its cause, has a high mortality or leads to life-long lasting complications. Some publications reported on the use of metyrapone in children with McCune Albright syndrome (MAS) and hypercorticism but also mentioned its poor tolerability.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Case presentation: &lt;/strong&gt;We present the case of a toddler in whom we diagnosed MAS based on pseudo-precocious puberty and hypercorticism at the age of 10 months. In light of hepatopathy, we decided to start the off-label treatment with metyrapone. Being aware of the challenges of this treatment with the only available product (gelatine capsule containing liquid metyrapone) and reports on local irritation and significant side effects after the oral and intrarectal administration of liquid metyrapone, diluted or undiluted, we decided to use the rectal application as suppositories. We started with the dose of 300 mg/m2/day (one administration every 6 h), with the intention to \"block and replace,\" using repeated measurements of serum morning and 23:00 cortisol, salivary cortisol, and 24-h urine steroid profile. After just 2 weeks, we discharged our patient with normal cortisol levels, without additional hydrocortisone substitution and with a total metyrapone dose of 900 mg/m2/day. Lipid profile and arterial pressure normalized, while growth veloci","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"103-108"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11854969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138440552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"National Service Evaluation of the Quality of Care for Children and Young People with Congenital Adrenal Hyperplasia in the UK: Survey Responses from Patients and Clinicians.","authors":"Neil R Lawrence, Irina A Bacila, Gary S Collins, Jeremy Dawson, Zi-Qiang Lang, Xiaochen Ji, S Faisal Ahmed, Sabah Alvi, Louise Eleanor Bath, Joanne Blair, Tim Cheetham, Elizabeth Clare Crowne, Justin H Davies, Mehul Dattani, Evelien F Gevers, Ruth Krone, Leena Patel, Ajay Thankamony, Tabitha Randell, Fiona Ryan, Sue Elford, Sallyann Blackett, Nils P Krone","doi":"10.1159/000537978","DOIUrl":"10.1159/000537978","url":null,"abstract":"<p><strong>Introduction: </strong>Quantifying differences in service provision for children and young people (CYP) living with congenital adrenal hyperplasia (CAH) across the UK.</p><p><strong>Methods: </strong>A national service evaluation using online questionnaires circulated to patients and clinicians from secondary and tertiary UK centres managing CYP with CAH and via the \"Living with CAH\" support group mailing list.</p><p><strong>Results: </strong>Total of 195 responses relating to patients aged 0-20 years attending 33 clinics (43 patients, 152 carers), as well as 34 clinicians from 18 trusts working across the 33 clinics. Only 12% of clinicians were \"completely satisfied\" with the service provided, compared to 68% of carers and 76% of patients. While 94% of clinicians reported providing formal training to families with CAH, over 80% of both patients and carers reported not attending what they considered formal training. Appetite for further training was higher in carers (86%) than patients (55%), although further \"unsure\" responses suggested formal training sessions would likely be well attended. Access to psychological services was difficult for 44% of clinicians. Biochemical monitoring of treatment was broadly in keeping with international guidelines, with 67% of clinicians reporting regular use of dried blood spots and 12% reporting regular urinary steroid metabolites.</p><p><strong>Conclusion: </strong>While there is overall good satisfaction with care provision among patients and carers with CAH in the UK, extra resources addressing the psychological and educational needs about the disease and its management would benefit patients and carers. Improved access to allied health professionals and psychologists will help support families and improve patient outcomes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"296-306"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140109850","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":"Arginine Vasopressin Deficiency in Children with Craniopharyngioma and Cerebral Germ Cell Tumour: Two Sides of the Same Coin - Clinical and Radiological Features.","authors":"Sabrina Criscuolo, Cristina Partenope, Mario Tortora, Ved Bhushan Arya, Assunta Albanese","doi":"10.1159/000538387","DOIUrl":"10.1159/000538387","url":null,"abstract":"<p><strong>Introduction: </strong>Paediatric brain tumours in the sellar-suprasellar region are often associated with arginine vasopressin peptide deficiency (AVPD), either at diagnosis caused by the tumour itself or during follow-up as a consequence of treatments. The purpose of this research was to retrospectively describe the neuroradiological characteristics and the timing of AVPD development in a cohort of paediatric patients with craniopharyngioma (CP) or germ cell tumours (GCTs).</p><p><strong>Methods: </strong>We evaluated brain MRI at tumour diagnosis and at the onset of AVPD, as well as recorded clinical, endocrinological, and histopathological data, treatments, and outcome.</p><p><strong>Results: </strong>Seventy-two patients with AVPD were included: 46 CPs (M:F = 25:21) and 26 GCTs (M:F = 18:8). CPs were suprasellar (63%), sellar (4%), or both (33%). GCTs were suprasellar (65%), pineal (24%), or bifocal (11%). No statistically significant differences were noted in tumour size between CP and GCT. Posterior pituitary bright spot absence was reported at diagnosis or at follow-up (as surgery consequence) in all patients with AVPD, indicating that the absence of hyper-intensity is a cardinal feature of AVPD. When measurable, pituitary stalk was thickened in most GCT patients (61.5%). At AVPD diagnosis in GCT, the mean age was 11.9 years; 18 (69%) patients had AVPD at the time of tumour diagnosis, 5 (19.3%) before the diagnosis with a latency of 24.4 months (range 4-48), and 3 (11.5%) during follow-up (mean 24 months, range 4-60) due to tumour recurrence. GCT patients presented with severe endocrinological manifestations (18/26), headache and vomiting (10/26), visual impairment (5/26), and behavioural changes with fatigue (1/26). In CP, the mean age at AVPD diagnosis was 10.3 years; 7 (15.2%) patients had AVPD at time of tumour diagnosis, 37 (80.5%) developed it shortly after neurosurgery, and 2 patients (4.3%) after 2 and 4 months from surgery, respectively. Clinically, headache and visual abnormalities were the most frequent clinical symptoms at diagnosis of CP (39/46, 84.8%), with hydrocephalus (16/46, 35%) and displacement of optic chiasm (29/46, 63%) at the initial MRI. While the vast majority of CP patients (93%) received only surgery, all GCT patients received radiation therapy in addition to or instead of surgery.</p><p><strong>Conclusion: </strong>An early differential diagnosis in children with AVPD and brain tumours is supported by a good understanding of the clinical features and imaging findings. Expert follow-up is necessary.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"266-273"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum Calcium Normal Range in 1,000 Term Newborns.","authors":"Lucie Levaillant, Agnès Linglart, Emmanuelle Letamendia, Claire Boithias, Samra Ouaras-Lounis, Patrice Thérond, Anne-Sophie Lambert, Mathieu Levaillant, Jean-Claude Souberbielle, Alexandra Benachi, Vincent Gajdos","doi":"10.1159/000534042","DOIUrl":"10.1159/000534042","url":null,"abstract":"<p><strong>Introduction: </strong>Serum calcium rapidly declines at birth because of the sudden interruption of the maternal-fetal calcium influx. Several factors are known to influence serum calcium in the first days of life, including circulating concentrations of maternal vitamin D. Objective was to establish the normal range variations of neonatal serum calcium according to the current French vitamin D supplementation during pregnancy, i.e., 100,000 IU of cholecalciferol during the third trimester.</p><p><strong>Methods: </strong>We included in our prospective cohort study 1,002 mother-newborn dyads recruited from April 2012 to July 2014 in two centers located in the neighborhoods of Paris, France.</p><p><strong>Results: </strong>Total serum calcium at 3 days of life in neonates varied from 2.06 mmol/L to 2.73 mmol/L [2.5 and 97.5 percentiles], with a mean of 2.45 mmol/L. Serum calcium was similar between babies born from vitamin D-supplemented mothers and those born from non-supplemented ones. In univariate and multivariable analyses, we demonstrated the importance of maternal and cord blood 25(OH)D concentrations for newborn serum calcium maintenance.</p><p><strong>Conclusion: </strong>We established that the expected serum calcium in neonates ranges between 2.06 mmol/L and 2.73 mmol/L which is significantly wider than the adult range. This finding should help physicians in the diagnosis of hypo- or hypercalcemia. In addition, our study supports the importance of vitamin D supplementation and 25(OH)D status for neonatal serum calcium maintenance.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"136-147"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140109931","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":"Invited Mini Review Metabolic Bone Disease of Prematurity: Overview and Practice Recommendations.","authors":"Monica Grover, Ambika P Ashraf, Sasigarn A Bowden, Andrew Calabria, Alicia Diaz-Thomas, Sowmya Krishnan, Jennifer L Miller, Marie-Eve Robinson, Linda A DiMeglio","doi":"10.1159/000536228","DOIUrl":"10.1159/000536228","url":null,"abstract":"<p><p>Metabolic bone disease of prematurity (MBDP) is defined by undermineralization of the preterm infant skeleton arising from inadequate prenatal and postnatal calcium (Ca) and phosphate (PO4) accretion. Severe MBDP can be associated with rickets and fractures. Despite advances in neonatal nutrition, MBDP remains prevalent in premature infants due to inadequate mineral accretion ex utero. There also remain significant knowledge gaps regarding best practices for monitoring and treatment of MBDP among neonatologists and pediatric endocrinologists. Preventing and treating MBDP can prevent serious consequences including rickets or pathologic fractures. Postnatal monitoring to facilitate early recognition of MBDP is best done by first-tier laboratory screening by measuring serum Ca, phosphorus, and alkaline phosphatase to identify infants at risk. If these laboratories are abnormal, further studies including assessing parathyroid hormone and/or tubular resorption of PO4 can help differentiate between Ca and PO4 deficiency as primary etiologies to guide appropriate treatment with mineral supplements. Additional research into optimal mineral supplementation for the prevention and treatment of MBDP is needed to improve long-term bone health outcomes and provide a fuller evidence base for future treatment guidelines. Metabolic bone disease of prematurity (MBDP) is defined by undermineralization of the preterm infant skeleton arising from inadequate prenatal and postnatal calcium (Ca) and phosphate (PO4) accretion. Severe MBDP can be associated with rickets and fractures. Despite advances in neonatal nutrition, MBDP remains prevalent in premature infants due to inadequate mineral accretion ex utero. There also remain significant knowledge gaps regarding best practices for monitoring and treatment of MBDP among neonatologists and pediatric endocrinologists. Preventing and treating MBDP can prevent serious consequences including rickets or pathologic fractures. Postnatal monitoring to facilitate early recognition of MBDP is best done by first-tier laboratory screening by measuring serum Ca, phosphorus, and alkaline phosphatase to identify infants at risk. If these laboratories are abnormal, further studies including assessing parathyroid hormone and/or tubular resorption of PO4 can help differentiate between Ca and PO4 deficiency as primary etiologies to guide appropriate treatment with mineral supplements. Additional research into optimal mineral supplementation for the prevention and treatment of MBDP is needed to improve long-term bone health outcomes and provide a fuller evidence base for future treatment guidelines.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"40-50"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11854976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139424651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Puberty Today, Gone Tomorrow: Transient Refractory Central Precocious Puberty in a Toddler with End-Stage Kidney Disease.","authors":"Priyanka Bakhtiani, Rachana Srivastava, Mitchell E Geffner","doi":"10.1159/000536323","DOIUrl":"10.1159/000536323","url":null,"abstract":"<p><strong>Introduction: </strong>The onset of puberty is typically delayed in children with chronic kidney disease (CKD), with only three reported cases of precocious puberty in boys with CKD.</p><p><strong>Case presentation: </strong>We report the case of a boy with end-stage kidney disease secondary to posterior urethral valves who, while undergoing peritoneal dialysis, presented at 17 months with central precocious puberty characterized by clinical signs of testicular and penile enlargement, pubic hair, and acne; rapid linear growth with advanced bone age; and pubertal luteinizing hormone (LH) and testosterone levels. Monthly leuprolide injections were commenced at 24 months with no pubertal or biochemical suppression thereafter, along with continued rapid bone-age advancement through 32 months. He then received a deceased-donor kidney transplant at 33 months of age, with good graft function. Within 2 months, he was noted to have prepubertal GnRH-stimulated LH and testosterone levels. Leuprolide injections were discontinued at that time with no further progression of puberty. The patient is now 48 months old with minimal further bone-age advancement and consistently prepubertal LH and testosterone levels.</p><p><strong>Conclusion: </strong>Our case demonstrates the development of precocious puberty due to premature activation of the hypothalamic-pituitary-testicular axis, presumably secondary to uremia and/or disordered renal clearance of gonadotropins, which was refractory to standard management with a gonadotropin-releasing hormone agonist, perhaps due to excessively rapid removal by peritoneal dialysis and/or the uremic state itself. Kidney transplantation led to a correction of uremia and a return to the prepubertal state.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"109-115"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139542284","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":"Copeptin Stimulation by Combined Intravenous Arginine and Oral LevoDopa/Carbidopa in Healthy Short Children and Children with the Polyuria-Polydipsia Syndrome.","authors":"Christine A March, Shruti Sastry, Michael J McPhaul, Sarah E Wheeler, Luigi Garibaldi","doi":"10.1159/000539208","DOIUrl":"10.1159/000539208","url":null,"abstract":"<p><strong>Introduction: </strong>Stimulated copeptin may provide an alternative to water deprivation testing (WDT) in the evaluation of polyuria-polydipsia syndrome (PPS). Though best studied, arginine stimulation alone produces a modest copeptin response in children. We investigated the effectiveness of the arginine + LevoDopa/Carbidopa stimulation test (ALD-ST) for copeptin.</p><p><strong>Methods: </strong>47 healthy short children (controls), 10 children with primary polydipsia, and 10 children with AVP deficiency received arginine hydrochloride (500 mg/kg intravenously over 30 min) and Levodopa/carbidopa (10:1 ratio; 175 mg of <sc>l</sc>-Dopa/m2 BSA) orally. Serum copeptin was measured at 0, 60, 90, and 120 min.</p><p><strong>Results: </strong>In controls, ALD-ST increased copeptin from a median of 7.0 pmol/L (IQR 5.0-10.0) to a peak of 44.0 pmol/L (IQR 21.4-181.0) between 60 and 120 min (p < 0.001). Copeptin peak was higher in subjects who experienced nausea or vomiting (57%) than in those who did not (131.0 pmol/L [IQR 42.5-193.8] vs. 22.7 pmol/L [IQR 16.0-33.7], p < 0.001). While subjects with primary polydipsia had similar baseline (8.5 pmol/L [IQR 8.0-11.0]) and stimulated (125.2 pmol/L [IQR 87.6-174.0]) copeptin levels as controls, subjects with AVP deficiency had lower baseline (2.5 pmol/L [IQR 2.0-3.1]) and peak levels (4.6 pmol/L [IQR 2.4-6.0]). A peak copeptin of ≥9.3 pmol/L best predicted absence of complete or partial AVP deficiency with a sensitivity of 100% and specificity of 80%.</p><p><strong>Conclusions: </strong>ALD-ST induced a robust peak copeptin in healthy short children and children with primary polydipsia. Nausea/vomiting, a side effect of ALD-ST, amplified the copeptin response. The ALD-ST may be a suitable initial screening test in children with PPS.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"316-326"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140860612","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}