Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"Microscopic Müllerian Duct Remnants in a 46,XY Individual with Genetically Confirmed 17α-Hydroxylase/17,20-Lyase Deficiency: an Unexpected Histopathological Finding.","authors":"Leyla Gizem Bolaç Özyılmaz, Ertuğrul İnan, Sezin Canbek, Bilge Aydın Behram, Aydilek Dağdeviren Çakır, Canan Tanık, Ahmet Uçar","doi":"10.4274/jcrpe.galenos.2026.2026-3-28","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-3-28","url":null,"abstract":"<p><p>17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia characterized by impaired cortisol and sex steroid synthesis with accumulation of mineralocorticoid precursors. Although hypertension, hypokalemia, and sexual infantilism represent the classical phenotype, atypical presentations are increasingly recognized. We report a 15-year-old phenotypically female adolescent presenting with primary amenorrhea, absent secondary sexual characteristics, and a <i>46,XY</i> karyotype. Despite biochemical evidence of complete 17α-hydroxylase/17,20-lyase deficiency, no hypertension was documented on repeated office and home blood pressure measurements, and serum potassium concentrations remained within the reference range during serial testing. Molecular analysis identified a homozygous pathogenic variant in <i>CYP17A1</i> (c.374G>A; p.Arg125Gln). Laparoscopy demonstrated no macroscopic Müllerian structures; however, histopathological examination of the bilateral gonadectomy specimens revealed bilateral microscopic Müllerian duct remnants within the perigonadal fibrous tissue. Serum anti-Müllerian hormone concentration was 12.58 ng/mL, within the expected range for a pubertal 46,XY individual. Targeted sequencing of <i>AMH</i> and <i>AMHR2</i>, together with additional genes relevant to gonadal development and 46,XY disorders of sex development, identified no pathogenic variants, likely pathogenic variants, or variants of uncertain significance. This case expands the clinicopathological spectrum of complete 17α-hydroxylase/17,20-lyase deficiency by demonstrating that microscopic Müllerian duct remnants may persist despite a serum AMH concentration within the expected range, with no molecular explanation identified by targeted genetic analysis.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148800237","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":"Long-Term Results of Long-Acting Somatostatin Analog Therapy in Children with Congenital Hyperinsulinism.","authors":"Amine Aktar Karakaya, Edip Unal, Funda Feryal Taş, Ruken Yıldırım, Şervan Özalkak, Hüseyin Demirbilek, Mehmet Nuri Özbek","doi":"10.4274/jcrpe.galenos.2026.2026-3-12","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-3-12","url":null,"abstract":"<p><strong>Background and objectives: </strong>Congenital hyperinsulinism (CHI) is a rare condition caused by dysregulation of pancreatic insulin secretion, leading to severe hypoglycemia in children. In diazoxide-unresponsive patients, somatostatin analogs are recommended as a treatment option. The aim of the present study was to evaluate the clinical characteristics, growth patterns, side effect profiles, and long-term follow-up of CHI patients who received octreotide long-acting release (octreotide-LAR) therapy.</p><p><strong>Methods: </strong>In the study, data from 23 CHI patients (F/M: 9/14) who received octreotide-LAR therapy between 2010 and 2025 were collected retrospectively. Data regarding glycemic control, growth parameters, and treatment-related adverse events were collected. The initial dose of octreotide-LAR was calculated as the total monthly dose of short-acting octreotide and was thereafter adjusted based on blood glucose monitoring results.</p><p><strong>Results: </strong>The median age at diagnosis was 15 days (2-120), and the most common presenting symptom was hypoglycemic seizures (78.2%). Genetic mutations were identified in 14 patients (60.8%). Octreotide-LAR therapy was initiated at a median age of 14 (25^th-75^th quartiles: 9-24) months, and the mean treatment duration was 71.6±38.2 months (min-max: 7-162). Initial dose was calculated as total monthly dose of short acting octreotide which was adjusted per blood glucose monitoring results. Mean growth velocity during treatment was 6.4±1.1 cm/year with no concern of negative growth outcome. Neurodevelopmental delay was observed in 10 patients (43.4%). Apart from gallstones in three patients and mild, transiently elevated liver enzyme levels in six patients, no serious treatment-related side effects were observed.</p><p><strong>Conclusion: </strong>In our cohort, long-term octreotide-LAR therapy achieved normoglycemia in the majority of patients without negativegrowth outcome. Transient elevations in liver enzymes and cholelithiasis were the most frequently observed side effects, indicating a safety profile comparable to that of short-acting octreotide. These results suggested that octreotide-LAR therapy is an effective and safe treatment option for diazoxide-unresponsive patients with CHI.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148800269","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":"Revisiting the Association of Central Precocious Puberty with Neurovisceral Diseases owing to a Girl with Niemann-Pick Disease Type C.","authors":"Zümrüt Arslan Gülten, Burçin Nazlı Karacabey, Bilge Aydın Behram, Hüseyin Onay, Ahmet Uçar","doi":"10.4274/jcrpe.galenos.2026.2026-2-16","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-2-16","url":null,"abstract":"<p><p>Niemann-Pick type C disease (NP-C) is a rare neurovisceral disorder caused by mutations in the NPC1 or NPC2 genes. Clinical symptoms of NP-C can appear at any age. Here we report a case of a girl diagnosed with NP-C who subsequently developed central precocious puberty (CPP). To our knowledge, this association has not been described in the literature till now. An 8 year old girl was referred to the pediatric metabolism outpatient clinic due to poor school performance, behavioral changes and periventricular white matter signal changes observed on cranial magnetic resonance imaging (MRI). The physical examination revealed vertical supranuclear gaze palsy (VSGP) and splenomegaly. The patient was diagnosed NP-C through genetic analysis and was started miglustat treatment. The patient was also referred to the pediatric endocrinology outpatient clinic due to breast development (Tanner stage 3) and pubic hair (Tanner stage 3). Laboratory work up revealed normal basal serum LH (0. 2 U/L) and the LHRH test showed a LH value of 8.48 U/L and a peak LH/ FSH ratio of 2. 8 (>0.66). Pelvic ultrasonography revealed an uterine length of 45 mm and mean ovarian volume of 5. 5 mL, Leuprolide acetate was started and at the first year of follow-up the patient's height velocity was 0.4 SDS and Tanner's pubertal staging was 3. This case report highlights a potential association of NP-C with CPP and confirms the need for careful assessment of pubertal development in patients with white matter disease.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148800322","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":"Melatonin Use in a School-aged Boy with Obesity Born to a Mother with Type 2 Diabetes.","authors":"Akihiro Nakamura","doi":"10.4274/jcrpe.galenos.2026.2026-7-24","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-7-24","url":null,"abstract":"<p><p>Intrauterine exposure to maternal hyperglycemia increases the risk of pediatric obesity. While lifestyle modifications are standard interventions, they are often insufficient, particularly when accompanied by sleep disturbances. An 11-year-old boy, born to a mother with type 2 diabetes, presented with rapid weight gain and severe overeating starting at age 10. Despite strict dietary guidance and physical activity, his weight increased to 62 kg (BMI z-score: 2.44) within one month. Endocrine evaluations were normal, but severe sleep disturbances were observed. Suspecting that sleep dysregulation exacerbated his appetite control, melatonin (1 mg/day) was initiated to target sleep quality. Following treatment, parental reports noted marked improvements in sleep posture and nighttime awakenings, alongside a secondary reduction in overeating episodes and gradual weight reduction without adverse events. Melatonin improves sleep quality and circadian alignment, which may favorably influence energy balance and metabolic regulation. Melatonin administration may serve as a useful adjunct in managing pediatric obesity by optimizing sleep behavior, especially in children with prenatal vulnerabilities and secondary appetite dysregulation. Further studies are required to confirm these observations.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148800292","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 Viral Legacy in Diabetic Ketoacidosis: Impact of Concurrent Respiratory Viral Infections on Acute Severity and Long-Term Glycemic Control in Children With Newly Diagnosed Type 1 Diabetes.","authors":"Tingli Chen, Xiaohong Zhang, Gaopin Yuan","doi":"10.4274/jcrpe.galenos.2026.2026-1-9","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-1-9","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to systematically evaluate the impact of concurrent respiratory viral infections on the acute severity of diabetic ketoacidosis (DKA), long-term glycemic control, and residual pancreatic β-cell function in children and adolescents with newly diagnosed type 1 diabetes mellitus (T1DM), so as to provide an evidence-based basis for clinical management.</p><p><strong>Methods: </strong>A total of 113 children and adolescents with newly diagnosed T1DM complicated by DKA were enrolled and divided into an exposed group (respiratory virus-positive, n=28) and a control group (no respiratory infection symptoms, virus-negative, n=85) based on virus detection results within 48 hours of initial diagnosis. Demographic, hospitalization, pancreatic β-cell function, DKA-related indicators, and T1DM autoantibodies were collected. All participants were followed up at 3 and 6 months to record HbA1c, insulin dosage, and DKA recurrence.</p><p><strong>Results: </strong>Results showed that the exposed group had significantly longer hospital stays, higher ICU admission rates, lower fasting C-peptide levels, higher incidences of severe DKA and cerebral edema, more severe acid-base imbalance and hyponatremia, greater 24-hour fluid volume, and longer DKA correction time (all <i>P</i><0.05). Regardless of treatment with an insulin pump (n=75) or insulin pen (n=38), the exposed group had significantly higher HbA1c and lower serum C-peptide levels at follow-ups (<i>P</i><0.05). Notably, the insulin pen subgroup in the exposed group had higher insulin dosage and DKA recurrence rate.</p><p><strong>Conclusion: </strong>Concurrent respiratory viral infections significantly increase DKA acute severity, exacerbate pancreatic β-cell dysfunction, and impair long-term glycemic control in newly diagnosed pediatric T1DM, highlighting the need for prioritized virus screening, prevention, and optimized individualized treatment.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148594308","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":"Off-Label Use of Teriparatide for Osteotomy Healing in an Adolescent with Osteogenesis Imperfecta Type VIII: A Case Report.","authors":"Aylin Günay, Sare Betül Kaygusuz, Ahmet Hamdi Akgülle, Motasim Khalid Bavaneh, Didem Helvacıoğlu, Zehra Yavaş Abalı, Serap Turan","doi":"10.4274/jcrpe.galenos.2026.2026-3-21","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-3-21","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) type VIII is an autosomal recessive skeletal dysplasia caused by P3H1 variants, resulting in defective collagen post-translational modification and increased bone fragility. Teriparatide (TPTD), a recombinant parathyroid hormone analogue, stimulates osteoblast activity and bone formation and is approved for the treatment of osteoporosis in adults. A 16-year-old male with genetically confirmed OI type VIII presented with delayed union with characterized by the absence of radiographic evidence of healing six months after femoral osteotomy and intramedullary rodding surgery. His prior management included intermittent bisphosphonate therapy which had improved bone mineral density. He had no recent history of fractures. Off-label therapy with TPTD (20 µg/day subcutaneously) was initiated and continued for six months. Although systemic markers of bone formation showed no remarkable changes, except osteocalcin, during therapy, serial radiographs confirmed successful bone union. The treatment was well tolerated, with no reported side effects; however, mild hypercalcemia with hypercalciuria, which persisted after discontinuation of TPTD therapy, was detected. Bisphosphonate therapy was resumed upon completion of TPTD treatment. This case represents the first documented use of TPTD to promote osteotomy healing in an adolescent with OI. The favourable clinical and radiologic outcome suggests a potential role for anabolic therapy in managing complex bone healing challenges in paediatric OI. Further research is warranted to evaluate safety and efficacy in this population.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148550811","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":"Striking Scrotal Hyperpigmentation as an Early Clinical Sign of Familial Glucocorticoid Deficiency Type 2: A Case with Homozygous <i>MRAP</i> Variant.","authors":"Gözde Gürpınar, Duygu Gamze Aracı, Yakup Karakurt","doi":"10.4274/jcrpe.galenos.2026.2025-10-12","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2025-10-12","url":null,"abstract":"<p><p>Familial glucocorticoid deficiency type 2 (FGD2) is a rare autosomal recessive disorder caused by pathogenic variants in the MRAP gene, typically characterized by isolated cortisol deficiency with markedly elevated ACTH levels. We report a term male neonate born to consanguineous parents who presented with striking scrotal hyperpigmentation at birth, despite an otherwise normal appearance and a normal newborn screening limited to classical congenital adrenal hyperplasia (CAH). Initial biochemical evaluations, including glucose and electrolytes, were unremarkable; however, due to severe hyperpigmentation, further endocrine workup was pursued. Laboratory findings revealed profoundly low serum cortisol and markedly elevated ACTH, supporting the diagnosis of primary adrenal insufficiency. Hydrocortisone therapy was initiated promptly, and during follow-up, transient hyperkalemia and low-normal aldosterone levels necessitated short-term fludrocortisone supplementation, suggesting partial mineralocorticoid involvement. Genetic analysis identified a homozygous MRAP in-frame deletion (c.88_90del; p.K30del), classified as likely pathogenic according to ACMG 2015 criteria and as a variant of uncertain significance according to the ClinGen SVI recommendations. Despite the dramatic initial presentation, the patient remained euglycemic and demonstrated normal neurodevelopment under appropriate hormone replacement, with gradual resolution of hyperpigmentation. This case highlights striking neonatal scrotal hyperpigmentation as a potential early clinical clue suggestive of familial glucocorticoid deficiency in a patient with a homozygous MRAP variant. Importantly, even when newborn screening for CAH is normal, marked hyperpigmentation should prompt evaluation for other causes of primary adrenal insufficiency to prevent life-threatening adrenal crises.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148550914","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":"Prolactinoma Associated with L-Dopa-Resistant Hyperprolactinemia in a Child with Tetrahydropterin (BH4) Deficiency.","authors":"Fatma Özgüç Çömlek, Hümeyra Yaşar Köstek, Emine Dilek, Şebnem Kılıç, Filiz Tütüncüler Kökenli","doi":"10.4274/jcrpe.galenos.2026.2026-1-7","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-1-7","url":null,"abstract":"<p><p>Tetrahydrobiopterin (BH4) deficiency causes hyperphenylalaninemia and impaired synthesis of serotonin and dopamine. Individuals with BH4 deficiency require personalized neurotransmitter replacement therapy to optimize treatment outcomes. An effective way to measure the success of this treatment is through serum prolactin levels; hyperprolactinemia indicates inadequate treatment and requires adjustments.Here, we report a 11-year- old girl with a diagnosis of BH4 deficiency who developed growth failure and persistent hyperprolactinemia despite L- dopa supplementation. Laboratory evaluation for growth failure revealed normal biochemical and thyroid hormone profiles, with decreased serum Insulin-like Growth Factor 1 (IGF-1) and Insulin-like Growth Factor Binding Protein 3(IGFBP-3), delayed bone age, and markedly elevated prolactin. Accordingly, growth hormone stimulation tests were conducted, revealing suboptimal responses and confirming growth hormone deficiency. In light of growth hormone deficiency and persistent hyperprolactinemia, cerebral magnetic resonance imaging was performed, demonstrating a solid pituitary lesion highly suggestive of prolactinoma. These findings suggest that in patients with BH4 deficiency, hyperprolactinemia resistant to L-dopa therapy may indicate the development of prolactinoma. Therefore, in resistant cases, regular laboratory follow-up and cranial imaging are clinically important.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148550839","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":"Risk Factors for Cerebral Edema in Pediatric Diabetic Ketoacidosis: a Systematic Review and Meta-Analysis of Observational Studies.","authors":"Luis Gabriel Rocha, Rayzha Kruzhkaya Cuellar, Liuba Alexandra Vargas, Katushka Cuellar","doi":"10.4274/jcrpe.galenos.2026.2026-2-14","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-2-14","url":null,"abstract":"<p><strong>Background: </strong>Cerebral edema is a rare but serious complication of pediatric diabetic ketoacidosis, and risk factors remain uncertain.</p><p><strong>Objective: </strong>To synthesize current evidence on risk factors associated with the development of cerebral edema (CE) in pediatric patients with diabetic ketoacidosis (DKA).</p><p><strong>Methods: </strong>A systematic search was conducted in MEDLINE, EMBASE, LILACS, and the Cochrane Library through January 2025. Observational studies were included. Risk of bias was assessed with Joanna Briggs Institute tools, and evidence certainty was rated using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach.</p><p><strong>Results: </strong>Eleven studies (n=2,545) were included. Bicarbonate administration may be associated with CE (OR 4.21; 95% CI: 2.37, 7.46; low certainty). The evidence is very uncertain about the associations between CE and younger age (MD -1.60 years; 95% CI: -2.38, -0.82), newly diagnosed type 1 diabetes (OR 1.54; 95% CI: 1.01, 2.35), and a more severe presentation phenotype characterized by greater acidosis and elevated urea (very low certainty). The evidence is also very uncertain about the association between higher early fluid volume and CE (MD 9.86 mL/kg; 95% CI: 5.06, 14.66; very low certainty).</p><p><strong>Conclusion: </strong>Bicarbonate administration may be associated with CE, which is consistent with current recommendations against its routine use in pediatric DKA. The evidence is very uncertain about the associations of younger age, new-onset diabetes, and a severe metabolic phenotype with CE; these findings may indicate increased risk but should be interpreted with caution. Prospective studies with standardized definitions and confounder adjustment are needed.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148550822","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":"Near Final Height in Males treated with Aromatase Inhibitors","authors":"Athanasia Bouliari, Anjile An, Oksana Lekarev, Karen Lin-Su","doi":"10.4274/jcrpe.galenos.2025.2025-10-4","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-10-4","url":null,"abstract":"<p><strong>Objective: </strong>Data on the impact of aromatase inhibitor (AI) therapy on final or near-final adult height (FNFH) in males with short stature is limited. This study investigated whether AI therapy improved FNFH in males with advanced or rapidly advancing bone age (ABA) and compromised predicted adult height.</p><p><strong>Methods: </strong>Data were collected through retrospective chart review. Descriptive statistics were used to characterize the study cohort. Fisher’s exact test and the Wilcoxon rank-sum test were used to compare outcomes.</p><p><strong>Results: </strong>Of 72 patients reviewed, 59 (82%) received anastrozole, 11 (15%) received letrozole, and 2 (2.8%) switched from anastrozole to letrozole. Median treatment duration was 25 [interquartile range (IQR): 18-32] months. Most common diagnoses included growth hormone (GH) deficiency (31%), early puberty and premature adrenarche (18%), idiopathic short stature (15%), overweight/obesity (14%). GH was used in 66%. The overall median gain in height (FNFH minus initial predicted height) was 1.2 cm (IQR: -1.9-4.2). Letrozole-treated patients showed a greater median height gain (4.2 cm, IQR: 0.6-13) compared to the anastrozole group (0.8 cm, IQR: -2.6-3.5; p=0.013) and reached a FNFH closer to mid-parental height (p=0.031). Longer duration of treatment, therapy at earlier puberty stages, and GH therapy were all significantly associated with greater gain in height (p values=0.005, 0.012, and 0.022, respectively).</p><p><strong>Conclusion: </strong>Our findings suggest that letrozole is associated with greater gain in height compared to anastrozole in males with ABA. Other factors associated with greater gains are treatment at earlier stages of puberty, longer duration of treatment and concurrent GH therapy.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"288-295"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13326008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145971400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}