Clinical Pediatric Endocrinology最新文献

Family with two novel in cis INSR gene variants: Phenotypic evolution with age. 具有两个新的顺式INSR基因变异的家族：随年龄的表型进化。

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-05-21 DOI: 10.1297/cpe.2026-0014

Georgia Sotiriou, Anny Mertzanian, Maria Eleni Raptopoulou, Amalia Sertedaki, Maria Tsirevelou, Eftychia Drogouti, Christina Kanaka Gantenbein, Christos Tsakalidis, Athanasios Christoforidis

{"title":"Family with two novel in cis INSR gene variants: Phenotypic evolution with age.","authors":"Georgia Sotiriou, Anny Mertzanian, Maria Eleni Raptopoulou, Amalia Sertedaki, Maria Tsirevelou, Eftychia Drogouti, Christina Kanaka Gantenbein, Christos Tsakalidis, Athanasios Christoforidis","doi":"10.1297/cpe.2026-0014","DOIUrl":"https://doi.org/10.1297/cpe.2026-0014","url":null,"abstract":"Pathogenic variants in the insulin receptor gene (INSR) cause a broad spectrum of metabolic disorders, from severe insulin resistance to milder phenotypes such as hyperinsulinemic hypoglycemia. We describe a preterm female neonate with persistent, asymptomatic hyperinsulinemic hypoglycemia, characterized by markedly elevated insulin and C-peptide levels with suppressed ketones. Genetic testing revealed two novel, maternally inherited heterozygous INSR variants in cis, c.3541A>C p.(Thr1181Pro) and c.3566A>C p.(Tyr1189Ser), located in the tyrosine kinase domain. The infant remains clinically stable without pharmacological treatment and demonstrates normal growth and development. Her 7-yr-old brother, carrying the same variants, is asymptomatic but shows relatively increased insulin responses during oral glucose tolerance testing, while the mother developed insulin-resistant diabetes in early adulthood. This family highlights the age-dependent phenotypic variability associated with the same INSR variants, ranging from neonatal hyperinsulinemic hypoglycemia to childhood hyperinsulinemia with euglycemia and adult insulin resistance. These observations expand the clinical spectrum of heterozygous INSR variants and underscore the influence of residual receptor activity, age, and metabolic demands on disease expression. Early genetic testing in infants with even mild hyperinsulinemic hypoglycemia is important for prognosis, family screening, and long-term follow-up to detect evolving insulin resistance.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 4","pages":"351-356"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early closure of cranial base synchondroses in infants with Vosoritide-treated achondroplasia. 沃索里肽治疗软骨发育不全的婴儿早期关闭颅底联合软骨。

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-07-16 DOI: 10.1297/cpe.2026-0051

Masako Aoki, Nobuhiko Nagano, Ryoji Aoki, Koichiro Sumi, Ichiro Morioka

引用次数: 0

Syndromic diabetes and hypergonadotropic hypogonadism in a boy with a 12q24.31-32 chromosomal deletion involving HNF1A, DHX37, and SETD1B. 1例12q24.31-32染色体缺失涉及HNF1A、DHX37和SETD1B的男孩的综合征型糖尿病和促性腺功能亢进症

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-06-26 DOI: 10.1297/cpe.2026-0011

Tomohiro Nakagawa, Hirohito Shima, Sayaka Kawashima, Dai Suzuki, Noriko Togashi, Atsuo Kikuchi, Junko Kanno

{"title":"Syndromic diabetes and hypergonadotropic hypogonadism in a boy with a 12q24.31-32 chromosomal deletion involving HNF1A, DHX37, and SETD1B.","authors":"Tomohiro Nakagawa, Hirohito Shima, Sayaka Kawashima, Dai Suzuki, Noriko Togashi, Atsuo Kikuchi, Junko Kanno","doi":"10.1297/cpe.2026-0011","DOIUrl":"https://doi.org/10.1297/cpe.2026-0011","url":null,"abstract":"Chromosomal deletions involving several disease-associated genes exhibit diverse phenotypes. HNF1A is one of the causative genes of maturity-onset diabetes of the young. Furthermore, heterozygous variants in DHX37 and SETD1B, located near HNF1A, cause 46,XY disorders of sex development and syndromic neurodevelopmental disorders, respectively. This study describes a 12-yr-old boy with a 12q24.31-32 chromosomal deletion involving HNF1A, DHX37, and SETD1B. The boy was born small-for-gestational age, and experienced seizures, autism spectrum disorder, hearing loss, short stature, and intellectual disability. At five years of age, an 8.6-Mb chromosomal deletion at 12q24.31-32 was identified by array-based comparative genomic hybridization. At 12 yr of age, he developed islet autoantibody-negative diabetes. As the deletion region identified included HNF1A, this suggested that it is a cause of diabetes. Furthermore, SETD1B was considered to be a cause of intellectual disability and autism spectrum disorder. Owing to his intellectual disability, self-management of hypoglycemia was challenging; thus, nateglinide and insulin therapy were deemed effective for diabetes management rather than sulfonylurea drugs. Furthermore, DHX37 haploinsufficiency was considered a cause of hypogonadism. These findings emphasize the importance of diabetes management tailored to the characteristics of children with intellectual disabilities and the potential for hypogonadism due to DHX37 haploinsufficiency.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 4","pages":"357-363"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13631439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A dynamic "hormonal tug-of-war" driven by a functioning ovarian remnant after testis-preserving partial gonadectomy in ovotesticular disorders of sex development: a case report. 一个动态的“激素拔河”驱动的功能卵巢残余在保留睾丸部分性腺切除术后的性发育的卵睾丸障碍：一个案例报告。

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-07-17 DOI: 10.1297/cpe.2026-0036

Kazuyoshi Johnin, Katsuyuki Matsui, Suzuko Moritani, Shohei Chatani, Ryuta Itoh, Yuri Mori, Shota Nakagawa, Kenichi Kobayashi, Tetsuya Yoshida, Susumu Kageyama

{"title":"A dynamic \"hormonal tug-of-war\" driven by a functioning ovarian remnant after testis-preserving partial gonadectomy in ovotesticular disorders of sex development: a case report.","authors":"Kazuyoshi Johnin, Katsuyuki Matsui, Suzuko Moritani, Shohei Chatani, Ryuta Itoh, Yuri Mori, Shota Nakagawa, Kenichi Kobayashi, Tetsuya Yoshida, Susumu Kageyama","doi":"10.1297/cpe.2026-0036","DOIUrl":"https://doi.org/10.1297/cpe.2026-0036","url":null,"abstract":"The endocrine behavior of residual ovarian tissue following testis‑preserving surgery in ovotesticular disorders of sex development (DSD) during adolescence remains poorly characterized. We report an adolescent male who presented with Tanner stage B4 gynecomastia despite male‑typical external genitalia. Baseline evaluation revealed elevated gonadotropins, relative hyperestrogenism (estradiol 58.7 pg/mL), and SRY‑negative chromosome mosaicism (47,XX,+der(8)/46,XX). Pelvic imaging demonstrated a small prostate and bilateral intratesticular cysts, and laparoscopy and cystoscopy confirmed a male internal phenotype without Müllerian structures. Because firm intratesticular foci suggested the presence of ovarian tissue, testis‑preserving partial gonadectomy was performed. Histopathological examination revealed bilateral ovotestes, with ovarian follicles adjacent to seminiferous tubules and no OCT3/4‑positive germ cells. Postoperatively, estradiol levels initially decreased but later showed intermittent fluctuations in parallel with testosterone, suggesting hormonal activity from a small residual ovarian remnant. Gynecomastia gradually regressed, bone mineral density remained normal, and serial testicular MRI findings were stable. This case demonstrates that even minimal residual ovarian tissue can remain hormonally active after testis‑preserving surgery in ovotesticular DSD and influence pubertal hormonal dynamics, highlighting the importance of careful long‑term postoperative surveillance with hormonal evaluation and targeted imaging.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 4","pages":"372-378"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Insulin levels in prepubertal patients with isolated premature pubarche: The INPREPP study. 青春期前孤立性耻骨过早患者的胰岛素水平：INPREPP研究。

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-06-11 DOI: 10.1297/cpe.2025-0104

Verónica Sánchez Escudero, María Ortiz Santamaría, Mónica Expósito Raspeño, Patricia López Sánchez, Concepción García Lacalle, Amparo González Vergaz

{"title":"Insulin levels in prepubertal patients with isolated premature pubarche: The INPREPP study.","authors":"Verónica Sánchez Escudero, María Ortiz Santamaría, Mónica Expósito Raspeño, Patricia López Sánchez, Concepción García Lacalle, Amparo González Vergaz","doi":"10.1297/cpe.2025-0104","DOIUrl":"https://doi.org/10.1297/cpe.2025-0104","url":null,"abstract":"We aimed to determine insulin levels and the homeostasis model assessment of insulin resistance (HOMA-IR) index in a cohort of children with isolated premature pubarche, to analyze the potential influence of adiposity, and to compare these parameters with those of a reference population. This study included 50 prepubertal patients with isolated premature pubarche between the ages of 5 and 8 yr (girls) and up to 9 yr (boys). Anthropometric parameters, abdominal circumference, body composition assessed by bioelectrical impedance analysis, and bone age were evaluated. Blood glucose, lipid profile, insulin, IGF-1, and androgen levels were measured. Standard deviation scores for insulin and the HOMA-IR index were calculated using age- and sex-specific reference values for our population. Among the participants, 76% were girls, and 20% had obesity. Insulin levels and the HOMA-IR index in normal-weight patients were similar to the population mean, whereas they were significantly increased in patients with excess adiposity. Higher levels were also observed in children who were formula-fed at birth compared with those who were breastfed, and in those with advanced bone age compared with those with bone age appropriate for chronological age; in both cases, this association was mediated by adiposity. The increase in insulin levels and the HOMA-IR index in patients with isolated premature pubarche appears to be influenced by adiposity.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 4","pages":"344-350"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Idiopathic short stature in the genomic era: a focused narrative review of genotype-phenotype correlation, selective neuroimaging, IGF-1 biology, and growth hormone responsiveness. 基因组时代的特发性身材矮小：基因型-表型相关性、选择性神经影像学、IGF-1生物学和生长激素反应性的重点叙述综述。

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-06-19 DOI: 10.1297/cpe.2026-0035

Ashraf Soliman, Fawzia Alyafei, Ahmed Elawwa, Nada Alaaraj, Noor Hamed, Shayma Mohamed

{"title":"Idiopathic short stature in the genomic era: a focused narrative review of genotype-phenotype correlation, selective neuroimaging, IGF-1 biology, and growth hormone responsiveness.","authors":"Ashraf Soliman, Fawzia Alyafei, Ahmed Elawwa, Nada Alaaraj, Noor Hamed, Shayma Mohamed","doi":"10.1297/cpe.2026-0035","DOIUrl":"https://doi.org/10.1297/cpe.2026-0035","url":null,"abstract":"Idiopathic short stature (ISS) is a provisional clinical label rather than a final diagnosis. This narrative review (2000-2026) synthesizes how genomic findings intersect with neuroimaging, IGF-1 biology, and GH responsiveness. Diagnostic yield varies by modality: candidate-gene (4.7%), chromosomal microarray (16.3%), multigene panels (21.6%), and exome sequencing (33.3% overall; 15.1% isolated). These estimates decrease if variants of uncertain significance (VUS) are excluded. Recurrent genes include ACAN, NPR2, SHOX, IHH, FGFR3, IGF1R, and PAPPA2. Study comparisons are limited by heterogeneous definitions and neuroimaging selection bias. While major structural hypothalamic-pituitary lesions are uncommon in ISS, pituitary size overlaps significantly with both controls and GH deficiency. GH response is genotype-dependent; SHOX deficiency typically shows robust gains, while ACAN variants yield more modest, sustained responses. ISS should be managed as a heterogeneous working phenotype. A clinically effective approach integrates careful phenotyping, selective MRI, explicit separation of pathogenic findings from VUS, and genotype-informed counseling regarding prognosis and treatment response.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 4","pages":"300-309"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical consensus guidelines for the management of Noonan syndrome in Japan. 日本努南综合征管理的临床共识指南。

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-05-21 DOI: 10.1297/cpe.2026-0037

Masanobu Kawai, Makiko Tachibana, Hidekazu Ishida, Yoko Aoki, Koji Muroya, Hiroyuki Yamagishi, Kenji Kurosawa, Tsutomu Ogata

{"title":"Clinical consensus guidelines for the management of Noonan syndrome in Japan.","authors":"Masanobu Kawai, Makiko Tachibana, Hidekazu Ishida, Yoko Aoki, Koji Muroya, Hiroyuki Yamagishi, Kenji Kurosawa, Tsutomu Ogata","doi":"10.1297/cpe.2026-0037","DOIUrl":"https://doi.org/10.1297/cpe.2026-0037","url":null,"abstract":"Noonan syndrome (NS) is a multisystem RASopathy marked by characteristic facies, congenital heart disease, short stature, and variable neurodevelopmental and systemic complications. Although molecular and clinical knowledge has advanced, evidence-based clinical guidance in Japan has been limited. A multidisciplinary committee in pediatric endocrinology, clinical genetics, and pediatric cardiology developed consensus guidelines on diagnosis, comorbidity assessment, treatment, and transitional care. Clinical questions were defined, and the literature published through March 2024 was systematically reviewed. Evidence was graded in partial accordance with the Minds Clinical Practice Guideline Development Manual 2020 and the GRADE framework, with expert consensus supplementing areas of limited evidence. External review included patient groups and academic societies, and the guideline was approved in 2025. The guideline recommends expanding diagnostic panels to include LZTR1, SOS2, MRAS, RRAS, and RRAS2 in addition to established genes. It advises comprehensive childhood assessment for tumor predisposition, coagulation abnormalities, hearing and ophthalmologic problems, neurodevelopmental features, and endocrine and cardiovascular complications, with strong emphasis on cardiac evaluation. Growth hormone therapy is recommended for short stature with careful monitoring for malignancy risk. MEK inhibitors may help selected patients with refractory hypertrophic cardiomyopathy or lymphatic abnormalities. Lifelong multidisciplinary surveillance and structured transition to adult care are strongly emphasized.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 4","pages":"319-336"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of congenital hyperinsulinism with ABCC8 variants treated with octreotide long-acting release for four years. 奥曲肽长效释放治疗先天性高胰岛素血症伴ABCC8变异4年1例。

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-07-03 DOI: 10.1297/cpe.2025-0135

Ikumi Umeki, Tomohiro Nakagawa, Akinobu Miura, Sayaka Kawashima, Hirohito Shima, Chisumi Sogi, Dai Suzuki, Masaki Ito, Naohisa Ishibashi, Shigeo Suzuki, Toru Takahashi, Tohru Yorifuji, Atsuo Kikuchi, Junko Kanno

{"title":"A case of congenital hyperinsulinism with ABCC8 variants treated with octreotide long-acting release for four years.","authors":"Ikumi Umeki, Tomohiro Nakagawa, Akinobu Miura, Sayaka Kawashima, Hirohito Shima, Chisumi Sogi, Dai Suzuki, Masaki Ito, Naohisa Ishibashi, Shigeo Suzuki, Toru Takahashi, Tohru Yorifuji, Atsuo Kikuchi, Junko Kanno","doi":"10.1297/cpe.2025-0135","DOIUrl":"https://doi.org/10.1297/cpe.2025-0135","url":null,"abstract":"Congenital hyperinsulinism (CHI) is a rare disorder resulting in hypoglycemia due to increased insulin secretion and is subdivided into focal and diffuse forms. CHI is associated with neurological damage due to hypoglycemia, making adequate blood glucose management crucial. Although subcutaneous octreotide injection can effectively treat CHI, frequent octreotide administration may be burdensome for patients and their families. Here, we describe a boy with early neonatal-onset persistent CHI treated with octreotide long-acting release (LAR). At first, he received treatment with continuous glucose infusion, diazoxide, and glucagon. Genetic analysis revealed the patient was a compound heterozygote for ABCC8, with diffuse form predicted. Although the focal form can be treated by surgery, the diffuse form requires long-term drug therapy. Therefore, he was treated with octreotide subcutaneous injections and subsequently transitioned to octreotide LAR to avoid the inconvenience of frequent injections. He has been receiving octreotide LAR for four years and has not experienced developmental delays or any apparent side effects, such as necrotizing enterocolitis. The dosing interval can be extended without increasing hypoglycemia. Octreotide LAR reduced the burden on the patient and his family. Octreotide LAR can be an effective long-term treatment for CHI. However, further cases are needed for verification.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 4","pages":"364-371"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Radioiodine or thyroidectomy in children and adolescents with Graves' disease: a structured literature review of efficacy and safety. 放射性碘或甲状腺切除术治疗儿童和青少年Graves病：有效性和安全性的结构化文献综述

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-07-16 DOI: 10.1297/cpe.2026-0043

Irene Silvestrini, Loubna Enezari, Elisa Gatta, Carlo Cappelli

{"title":"Radioiodine or thyroidectomy in children and adolescents with Graves' disease: a structured literature review of efficacy and safety.","authors":"Irene Silvestrini, Loubna Enezari, Elisa Gatta, Carlo Cappelli","doi":"10.1297/cpe.2026-0043","DOIUrl":"https://doi.org/10.1297/cpe.2026-0043","url":null,"abstract":"Graves' disease (GD) is the most common cause of hyperthyroidism in children and adolescents. When remission is not achieved with antithyroid drugs, definitive treatment with radioiodine therapy (RAI) or thyroidectomy is recommended. We conducted a structured literature review of studies indexed in PubMed/MEDLINE to evaluate the efficacy and safety of these approaches in the paediatric population. Twenty-one studies including 9,490 patients were analysed. RAI achieved high remission rates (85-96%), with hypothyroidism representing the expected therapeutic outcome. Thyroidectomy provided definitive disease control in the vast majority of patients, with recurrence mainly associated with subtotal procedures. The most frequent surgical complication was transient hypocalcaemia (16.9%), while permanent hypoparathyroidism was rare (0.79%). RAI was generally associated with infrequent reported adverse events, such as transient sialadenitis, and long-term data did not show increased risks of malignancy or reproductive complications. Overall, available observational evidence suggests that both RAI and total thyroidectomy are effective definitive treatments for paediatric GD. In the absence of randomized comparative studies, treatment choice should be individualized according to patient age, thyroid characteristics, institutional expertise, and patient and family preferences.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 4","pages":"310-318"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnostic guide to hypochondroplasia. 软骨发育不良诊断指南。

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Clinical Pediatric Endocrinology Pub Date : 2026-10-01 Epub Date: 2026-06-25 DOI: 10.1297/cpe.2026-0032

Takuo Kubota, Gen Nishimura, Hiroshi Kitoh, Yasuhisa Ohata, Tsuyoshi Isojima, Keita Okada, Sumito Dateki, Kosei Hasegawa, Ikuma Fujiwara, Masaki Matsushita, Noriyuki Namba, Keiichi Ozono, Toshimi Michigami

{"title":"Diagnostic guide to hypochondroplasia.","authors":"Takuo Kubota, Gen Nishimura, Hiroshi Kitoh, Yasuhisa Ohata, Tsuyoshi Isojima, Keita Okada, Sumito Dateki, Kosei Hasegawa, Ikuma Fujiwara, Masaki Matsushita, Noriyuki Namba, Keiichi Ozono, Toshimi Michigami","doi":"10.1297/cpe.2026-0032","DOIUrl":"https://doi.org/10.1297/cpe.2026-0032","url":null,"abstract":"Hypochondroplasia is a skeletal dysplasia characterized by disproportional short stature with rhizomelic limb shortening, caused by pathogenic variants of FGFR3, most frequently the p.Asn540Lys variant. However, affected individuals harbor a wide variety of pathogenic variants, accounting for the broad phenotypic spectrum of the disorder. Despite being closely related to achondroplasia, hypochondroplasia is a milder condition that was previously believed to be recognizable only in childhood, but not in infancy. However, the widespread use of prenatal ultrasonography and frequent diagnosis of fetal limb shortening have increased the number of hypochondroplastic neonates identified, thereby clarifying the early radiographic findings of the disorder. Radiological diagnosis of hypochondroplasia in children carrying the p.Asn540Lys variant is currently feasible in the neonatal period or even prenatally, using three-dimensional CT. Conversely, some individuals have a mild phenotype with minimal skeletal abnormalities, which hampers the differential diagnosis of hypochondroplasia and constitutional short stature. For a definitive diagnosis, genetic testing for FGFR3 is recommended. This diagnostic guide aims to assist in the early recognition of hypochondroplasia and to facilitate the management of affected children.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 4","pages":"337-343"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0