Journal of Clinical Research in Pediatric Endocrinology最新文献_第8页

A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report 特纳综合征与真菌病并存的罕见病例报告：病例报告

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2024-10-28 DOI: 10.4274/jcrpe.galenos.2024.2024-6-25

Ozge Bayrak Demirel, Esin Karakilic-Ozturan, Tugba Atci, Sule Ozturk Sari, Can Baykal, Asli Derya Kardelen, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler

{"title":"A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report","authors":"Ozge Bayrak Demirel, Esin Karakilic-Ozturan, Tugba Atci, Sule Ozturk Sari, Can Baykal, Asli Derya Kardelen, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2024.2024-6-25","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-25","url":null,"abstract":"Turner syndrome (TS) is the most common sex chromosome abnormality among females, characterized by short stature, hypergonadotropic hypogonadism, congenital heart anomalies, and an increased risk of autoimmune diseases. Although TS does not typically increase the absolute risk of malignancy, specific cancers, such as those affecting the nervous system and gastrointestinal tract and malignant melanoma, may occur more frequently. Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphoma, generally affecting otherwise healthy adults but also seen in children and adolescents. We report an 11.2-year-old girl with TS presenting with substantial weight gain and short stature. Clinical examination revealed characteristic TS features and karyotype analysis confirmed mosaic TS. Following growth hormone (GH) therapy, the patient developed persistent, erythematous, itchy skin lesions diagnosed as folliculotropic MF. GH therapy was discontinued, and topical steroids controlled the skin lesions effectively. MF in TS is very rare and unexpected, especially in a child. This is the first reported case of MF in a child with TS. This case highlights the importance of carefully evaluating skin lesions in patients with TS and suggests considering MF as a differential diagnosis.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"25-29"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510991","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}

引用次数: 0

A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-reductase Type 2 Deficiency 中国儿童5α-还原酶2型缺乏症中一种新的SRD5A2功能丧失变异

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2025-03-06 DOI: 10.4274/jcrpe.galenos.2024.2024-8-9

Peng Zhou, Juanjuan Lyu, Xiaomei Sun, Ying Liu, Chuanjie Yuan, Jin Wu

{"title":"A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-reductase Type 2 Deficiency","authors":"Peng Zhou, Juanjuan Lyu, Xiaomei Sun, Ying Liu, Chuanjie Yuan, Jin Wu","doi":"10.4274/jcrpe.galenos.2024.2024-8-9","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-8-9","url":null,"abstract":"Differences or disorders of sex development (DSD) represent a range of congenital conditions that lead to discrepancies among a person’s sex chromosomes, gonads, and anatomical sex. Variants in the SRD5A2 gene can lead to 5-alpha-reductase type 2 (5α-RD2) deficiency, a condition within the DSD spectrum. Here, we report a case of 5α-RD2 deficiency in a Chinese child, resulting from a newly identified compound heterozygous variant in SRD5A2. The proband, a 2-month-old child assigned female at birth, was initially observed to have bilateral hypertrophy of the labial folds during routine child healthcare visits at a local hospital. An ultrasound scan revealed testicular structures on both sides of the labial folds. The testosterone/dihydrotestosterone ratio after stimulation was 37, consistent with 5α-RD2 deficiency. Whole-exome sequencing and copy number variation analysis identified a novel compound heterozygous variant in SRD5A2, consisting of a 175.06 Kb deletion (including exon 1) located at chr2:31802204-31977267 and a c.607G>A (p.G203S) point mutation. Cytogenetic analysis confirmed a 46,XY karyotype. This case highlights a previously unreported compound heterozygous variant in SRD5A2 associated with 5α-RD2 deficiency in a Chinese child.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"50-53"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568608","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}

引用次数: 0

Cabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma 卡麦角林诱导青少年泌乳素瘤病理性赌博。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2025-01-24 DOI: 10.4274/jcrpe.galenos.2025.2024-10-11

Ummahan Tercan, Ezgi Sarban, Melek Yıldız, Özlem Nida Erbaşı, Mine Özkan, Aslı Derya Kardelen, Şükran Poyrazoğlu, Firdevs Baş, Feyza Darendeliler

{"title":"Cabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma","authors":"Ummahan Tercan, Ezgi Sarban, Melek Yıldız, Özlem Nida Erbaşı, Mine Özkan, Aslı Derya Kardelen, Şükran Poyrazoğlu, Firdevs Baş, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2025.2024-10-11","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-10-11","url":null,"abstract":"Prolactinomas are the most common hormone-secreting pituitary adenomas in adolescents. Dopamine agonists (DA) are used as first-line medical treatment. DAs are associated with an array of physical side effects; however, impulse control disorders (ICDs), such as pathological gambling (PG), have also been reported in adults. A 15.7-year-old male with no psychiatric history was referred for headache and elevated prolactin (PRL) levels. He was diagnosed with PRL-secreting pituitary macroadenoma. After initiating DA therapy with cabergoline (CBG), normalization of PRL levels and a considerable decrease in tumor size were observed. Central hypothyroidism and adrenal insufficiency present at the time of diagnosis were resolved. CBG dose was adjusted according to the test results over time. However, after two and a half years of therapy (while using 1.5 mg CBG per week), the patient developed PG, incurring debts and affecting familial relationships. Upon reducing the CBG dosage, PG symptoms ceased. This is the first case report of an adolescent with a PRL-secreting macroadenoma who developed PG as a side effect of CBG treatment. This case highlights the need for careful monitoring of psychiatric symptoms in pediatric patients with prolactinoma on DAs.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"64-69"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030196","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}

引用次数: 0

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl 一名台湾女孩的常染色体隐性低磷血症 2 型佝偻病与新型 ENPP1 变异有关

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2024-07-16 DOI: 10.4274/jcrpe.galenos.2024.2024-3-8

Han-Yi Lin, Ni-Chung Lee, Meng-Ju Melody Tsai, Ting-Ming Wang, Yi-Ching Tung

引用次数: 0

Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature. 核型为 46,XX 的处女膜青少年中的性腺母细胞瘤伴精子异常瘤：病例报告和文献综述。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2024-10-10 DOI: 10.4274/jcrpe.galenos.2024.2024-7-18

Tugce Kandemir, Esin Karakilic Ozturan, Ozlem Dural, Ayca Dilruba Aslanger, Elif Inan Balci, Aysel Bayram, Semen Onder, Asli Derya Kardelen, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler

引用次数: 0

Permanent Neonatal Diabetes with High Insulin Requirements due to a New Variant in the INS Gene INS基因新变异导致的高胰岛素需要量的永久性新生儿糖尿病

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-7-11

Johana Andrea Botero Hernández, Gina González-Valencia, Vanessa Suarez, Gabriel del Castillo

{"title":"Permanent Neonatal Diabetes with High Insulin Requirements due to a New Variant in the INS Gene","authors":"Johana Andrea Botero Hernández, Gina González-Valencia, Vanessa Suarez, Gabriel del Castillo","doi":"10.4274/jcrpe.galenos.2024.2024-7-11","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-7-11","url":null,"abstract":"Neonatal diabetes is an infrequent disorder that may present as transient, permanent, or syndromic. It is most commonly caused by pathogenic variants involving the ABCC8, KCNJ11, and INS genes. This report describes a neonate with permanent diabetes mellitus due to a previously unreported variant in the INS gene, outlining the diagnostic complexities, therapeutic interventions, and related clinical challenges. The neonate with a history of symmetrical intrauterine growth restriction presented with severe hyperglycemia not associated with ketosis or infectious. He had high insulin requirements and did not respond to sulfonylurea management. Anti-insulin and anti-islet pancreatic antibodies were negative. Genetic sequencing revealed a homozygous missense variant (c.3G>A, p.Met1Ile) in INS, which had not been previously reported. Timely molecular diagnosis of neonatal diabetes enabled optimization of management strategies, mitigating the long-term impact on growth, neurodevelopment, and the occurrence of hypoglycemic episodes.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"45-49"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878355","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}

引用次数: 0

A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism due to a Novel Homozygous Variant in the SCNN1B Gene 新生儿耗盐综合征的罕见病因：一例因SCNN1B基因纯合子变异而被诊断为假性醛固酮减少症的临床处理

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2024-12-26 DOI: 10.4274/jcrpe.galenos.2024.2024-10-5

Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Kürşat Çetin, Nurten Özkan Zarif, Kıymet Çelik, Ercan Mıhçı, Özden Altıok Clark, Hale Tuhan, Mesut Parlak

{"title":"A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism due to a Novel Homozygous Variant in the SCNN1B Gene","authors":"Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Kürşat Çetin, Nurten Özkan Zarif, Kıymet Çelik, Ercan Mıhçı, Özden Altıok Clark, Hale Tuhan, Mesut Parlak","doi":"10.4274/jcrpe.galenos.2024.2024-10-5","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-10-5","url":null,"abstract":"Pseudohypoaldosteronism (PHA) is a rare disorder that, if not promptly recognized and treated, can lead to life-threatening hyperkalemia resulting in cardiac arrest and death. Systemic PHA is caused by variants that deactivate the epithelial sodium channel subunits. Management is challenging due to high-dose oral replacement therapy, and patients with systemic PHA require lifelong treatment. Here, we present the clinical course of a newborn diagnosed with PHA at seven days of age due to severe dehydration, inadequate feeding, vomiting, and lethargy. The infant was found to be homozygous for the variant c.1234dup (p.Glu412Glyfs*39) in exon 8 of the SCNN1B gene. The patient had multiple hospitalizations during follow-up and died at the age of 10 months due to pneumonia. Maintaining a high clinical suspicion for PHA is crucial for initiating treatment and preventing potential cardiac arrest and death in these patients. Further research is needed to determine the significance of such novel mutations in this disease.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"54-58"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899831","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}

引用次数: 0

A Rare Presentation of 17α-Hydroxylase/17,20-Lyase Deficiency in a Patient with Non-Hodgkin’s Lymphoma: A Case Report 非霍奇金淋巴瘤患者罕见的 17α 羟化酶/17,20 Lyase 缺乏症：病例报告。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2024-10-10 DOI: 10.4274/jcrpe.galenos.2024.2024-3-13

Niran Tekkeli, İlknur Kurt, Nevin Yalman, Çetin Timur, Şenol Demir, Elif Sağsak

引用次数: 0

Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma Thauvin-Robinet-Faivre综合征：青少年节段性过度生长和甲状腺癌的FIBP变异。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2025-03-18 DOI: 10.4274/jcrpe.galenos.2025.2024-10-12

Ülkü Gül Şiraz, Deniz Koçak Göl, Meino Rohlfs, Christoph Klein, Ekrem Ünal, Nihal Hatipoğlu

{"title":"Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma","authors":"Ülkü Gül Şiraz, Deniz Koçak Göl, Meino Rohlfs, Christoph Klein, Ekrem Ünal, Nihal Hatipoğlu","doi":"10.4274/jcrpe.galenos.2025.2024-10-12","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-10-12","url":null,"abstract":"Overgrowth syndromes are rare genetic disorders arising from alterations in the growth factors pathway. These syndromes can present as generalized overgrowth, characterized by macrosomia and excessive height compared to peers, or partial overgrowth syndromes, where specific body regions exhibit disproportionate growth often accompanied by vascular anomalies. Both forms are associated with an increased risk of tumor development. The fibroblast growth factor 1 (FGF-1) intracellular binding protein (FIBP) gene plays a critical role in cell proliferation and differentiation by interacting with growth factors. In this article, we present a case of Thauvin-Robinet-Faivre syndrome (TROFAS) in a 16-year-old girl, diagnosed with homozygous NM_004214.5 c.412-3_415dup (p. Asp139AIafsTer3) variant in the FIBP gene. This case exhibits phenotypic features and tumor development, including thyroid follicular carcinoma and parotid mucoepidermoid carcinoma, that have not been previously reported in association with this syndrome. Recent studies have implicated FIBP gene defects in overgrowth syndromes, with only a limited number of cases described globally. This case expands the known clinical and tumor spectrum associated with TROFAS, providing new insights into the pathophysiology of this rare disorder.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"75-82"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659276","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}

引用次数: 0

Atypical Presentation of New Onset Diabetes with Hyperglycemic Hyperosmolar State in Two Toddlers 两名幼儿新发糖尿病伴高血糖高渗状态的不典型表现。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2025-05-08 DOI: 10.4274/jcrpe.galenos.2025.2024-10-6

Alina Haque, Esther E. Bell-Sambataro, Foram Patel, Leena Mamilly, Kathryn Obrynba, Jennifer M. Ladd

{"title":"Atypical Presentation of New Onset Diabetes with Hyperglycemic Hyperosmolar State in Two Toddlers","authors":"Alina Haque, Esther E. Bell-Sambataro, Foram Patel, Leena Mamilly, Kathryn Obrynba, Jennifer M. Ladd","doi":"10.4274/jcrpe.galenos.2025.2024-10-6","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-10-6","url":null,"abstract":"Hyperglycemic hyperosmolar state (HHS), or mixed HHS with diabetic ketoacidosis (DKA), is a rare complication of diabetes in children. Prompt recognition of hyperosmolality is necessary to prevent morbidity and mortality. We report two of the youngest cases with HHS, both presenting as new onset of type 1 diabetes. The first was a 3-year-4-month-old male with autism spectrum disorder who presented with glucose 76.0 mmol/L (1370 mg/dL), calculated serum osmolality 388 mOsm/kg, and trace urinary ketones, consistent with HHS and complicated by acute kidney injury. The second was a 4-year-7-month-old male with Trisomy 21 and autism spectrum disorder who presented with glucose 117.3 mmol/L (2114 mg/dL), calculated serum osmolality 401 mOsm/kg, and elevated serum β-hydroxybutyrate, consistent with mixed HHS-DKA and complicated by acute kidney injury and pancreatitis. Both received aggressive rehydration although hyperosmolality was initially overlooked, resulting in earlier and higher insulin dosing more typical of DKA than HHS. Both recovered without sequelae. In each case, young age and developmental delay likely contributed to hyperosmolality, given the inability to communicate increased thirst and freely access water. A high index of suspicion for HHS is necessary as significant rehydration and delayed start of low dose insulin infusion are recommended to prevent complications.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"70-74"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144035356","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}

引用次数: 0