Journal of Clinical Research in Pediatric Endocrinology最新文献_第7页

Genetics of Idiopathic Hypogonadotropic Hypogonadism 特发性促性腺功能减退症的遗传学。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2025-09-17 DOI: 10.4274/jcrpe.galenos.2025.2025-6-23

A Kemal Topaloğlu, Leman Damla Kotan

{"title":"Genetics of Idiopathic Hypogonadotropic Hypogonadism","authors":"A Kemal Topaloğlu, Leman Damla Kotan","doi":"10.4274/jcrpe.galenos.2025.2025-6-23","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-6-23","url":null,"abstract":"Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of disorders characterized by deficient secretion or action of gonadotropin-releasing hormone (GnRH), leading to impaired pubertal development and infertility. Traditionally, IHH is classified into Kallmann syndrome, associated with anosmia, and normosmic IHH, in which olfactory function is preserved. The condition exhibits marked genetic heterogeneity. Advances in next generation sequencing have significantly expanded the genetic landscape of IHH, with pathogenic variants identified in over 60 genes, accounting for up to 50% of cases. Oligogenic inheritance is increasingly recognized, occurring in 10-20% of individuals. The potential for spontaneous or treatment-induced clinical recovery in a subset of patients, along with phenotypic overlap with constitutional delay of growth and puberty, presents additional diagnostic challenges. Despite these complexities, genetic studies of IHH have provided critical insights into fundamental neuroendocrine processes, most notably the recent elucidation of the Kisspeptin, Neurokinin B, Dynorphin neurons as the GnRH pulse generator. These discoveries have also informed the development of targeted therapies, exemplified by the recent FDA approval of fezolinetant, a neurokinin B receptor antagonist, for the treatment of menopausal vasomotor symptoms.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"203-223"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145076362","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

Neonatal Cholestasis Caused by Graves' Disease: A Case Report and Literature Review. Graves病致新生儿胆汁淤积1例并文献复习。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-06-26 DOI: 10.4274/jcrpe.galenos.2026.2026-1-19

Yanhui Zhang, Lianshuang Liu, Yi Lu, Weiyuan Fang

{"title":"Neonatal Cholestasis Caused by Graves' Disease: A Case Report and Literature Review.","authors":"Yanhui Zhang, Lianshuang Liu, Yi Lu, Weiyuan Fang","doi":"10.4274/jcrpe.galenos.2026.2026-1-19","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-1-19","url":null,"abstract":"This is a case report of neonatal cholestasis caused by Graves' disease, accompanied by a literature review of previously published cases. Neonatal/Infantile cholestasis (NIC) is defined as an impairment in bile formation and/or flow presenting by the first year of age, typically within the first three months. Hyperthyroidism has been less frequently associated with this condition. Here, we report a case of neonatal cholestasis caused by Graves' disease and review relevant literature to summarize its clinical characteristics, and to enhance prompt and accurate recognition and diagnosis of this disease. A 28-day-old female infant was admitted to our center, presenting with jaundice, diarrhea, poor weight gain, and tachycardia. Laboratory examinations showed cholestasis, hyperthyroidism, and positive for thyrotropin receptor antibody (TRAb), confirming the diagnosis of neonatal Graves' disease. After treatment with propranolol and intravenous immunoglobulin (IVIG), the jaundice subsided, and thyroid function returned to normal. Neonatal Graves' disease must be included in the differential diagnosis of cholestasis, particularly in infants whose mothers have Graves' disease or a history of thyroid dysfunction. Early detection of hyperthyroidism in neonates with cholestasis is crucial.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148340689","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}

引用次数: 0

An Unexpected Result in a Case of Gonadal Dysgenesis: Noonan Syndrome Caused by RIT1 Mutation. 一例性腺发育不良的意外结果：由RIT1突变引起的Noonan综合征。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-06-16 DOI: 10.4274/jcrpe.galenos.2026.2025-12-21

Şafak Demirtaş, Elif Özsu, Zeynep Şıklar, Zehra Aycan, Sirmen Kızılcan Çetin, Sema Nilay Abseyi, İlkyaz Türktan, Merih Berberoğlu

{"title":"An Unexpected Result in a Case of Gonadal Dysgenesis: Noonan Syndrome Caused by RIT1 Mutation.","authors":"Şafak Demirtaş, Elif Özsu, Zeynep Şıklar, Zehra Aycan, Sirmen Kızılcan Çetin, Sema Nilay Abseyi, İlkyaz Türktan, Merih Berberoğlu","doi":"10.4274/jcrpe.galenos.2026.2025-12-21","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2025-12-21","url":null,"abstract":"Noonan syndrome occurs in approximately 1/1,000-1/2,500 live births and is caused by defects in the Ras/mitogen-activated protein kinase pathway. Pubertal development includes syndrome-specific differences which may manifest as delayed puberty in both sexes, as well as cryptorchidism and impaired gonadal function, especially in the males. However gonadal dysgenesis and disorders of sex development have not been previously reported in the literature before. Our patient presented with ambiguous genitalia at two days of age. There was no consanguinity between the parents. On physical examination, the external masculinisation score was 4. Laboratory tests were compatible with gonadal dysgenesis. Echocardiography revealed pulmonary stenosis and a secundum atrial septal defect. Karyotype was 46 XY, SRY (+) and no pathogenic variant was detected in the targeted gene sequencing panel for disorders of sex development. A targeted next-generation seqeuencing (NGS) panel for Noonan syndrome was performed in the patient due to pulmonary stenosis and suggestive facial appearance, identifying a pathogenic c.136 T>G variant in the RIT1 gene. Noonan syndrome may cause gonadal dysfunction leading to delayed puberty and infertility; however, gonadal dysgenesis and ambiguous genitalia have not been previously reported. Noonan syndrome should be investigated in every patient with suggested clinical findings and affected gonadal functions.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148260101","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}

引用次数: 0

A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome 导致身材矮小和青春期性早熟的罕见病因：浮港综合征

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2024-09-23 DOI: 10.4274/jcrpe.galenos.2024.2024-5-4

Duygu Çetinkaya, Gönül Büyükyılmaz, Esra Kılıç

{"title":"A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome","authors":"Duygu Çetinkaya, Gönül Büyükyılmaz, Esra Kılıç","doi":"10.4274/jcrpe.galenos.2024.2024-5-4","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-5-4","url":null,"abstract":"Floating-Harbor syndrome is a sporadic, autosomal dominantly-inherited, malformation syndrome characterized by typical craniofacial findings, proportional short stature, significantly delayed bone age, delayed expressive language, delayed speech, and normal head circumference. It is caused by heterozygous mutations in the SNF2-associated CBP activator protein gene (SRCAP) located on chromosome 16. Here, we report a 9.3 years old male patient who presented to the pediatric genetics outpatient clinic with retardation in early developmental stages, dysmorphic facial features, and short stature. A triangular face, short filtrum, posteriorly rotated ear, deep-set eyes, bulbous nose, prominent columella, and low hairline are unique facial features in the syndrome. He also has short stature, significant retardation in bone age, and retardation in expressive language, all suggesting Floating-Harbor syndrome. The diagnosis was confirmed through molecular testing which revealed a heterozygous c.7330C>T p.(Arg2444Ter) pathogenic variant in exon 34, of the SRCAP gene. Floating-Harbor syndrome should be remembered in the differential diagnosis of patients evaluated for short stature and learning disability with its unique facial features. By reporting a new case of Floating-Harbor syndrome our aim was to expand the clinical and molecular spectrum in this rare syndrome and increase diagnostic awareness for pediatric endocrinology practitioners.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"20-24"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299185","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

Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review Weiss-Kruszka综合征的临床及分子特征：1例报告及文献复习。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2025-03-19 DOI: 10.4274/jcrpe.galenos.2024.2024-8-4

Lele Li, Chunxiu Gong

{"title":"Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review","authors":"Lele Li, Chunxiu Gong","doi":"10.4274/jcrpe.galenos.2024.2024-8-4","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-8-4","url":null,"abstract":"Weiss-Kruszka syndrome (WSKA; OMIM#618619) is a rare condition with multiple congenital anomalies. This study describes a patient with WSKA from Northern China. The patient was a 9.75-year-old boy who presented with growth retardation (growth velocity: 3-4 cm/year at school age), delayed motor and speech development, and eating difficulty. The patient’s weight was 22 kg (<3rd percentile), and his height was 125.6 cm (<3rd percentile) at the first visit. He had craniofacial anomalies characterized by heavily arched eyebrows, mild bilateral ptosis, inner epicanthal folds, uneven teeth, macrodontia of the upper central incisors, and low-set ears. A transverse palmar crease was observed on the right palm. The serum insulin-like growth factor-1 level was 73.1 ng/mL (normal range: 74-388 ng/mL). His bone age was appropriate at 9-10 years. Cranial magnetic resonance imaging results revealed a small pituitary gland. Trio whole-exome sequencing was performed because of the patient’s non-specific dysmorphic features and a phenotype indistinguishable from many other inherited disorders with growth retardation. A de novo splicing variant, c.6833-2A>T, was identified in the ZNF462 gene (NM_021224). Recombinant human growth hormone therapy was started (dose, 0.15 IU/kg/day) and administered as daily subcutaneous injections. His growth velocity increased (5 cm/6 months). This case has been added to the limited number of publications reporting WSKA. This study also reports the genotypic and phenotypic landscape of WKSA, providing clinical and genetic data to support the etiology of haploinsufficiency of the ZNF462 gene, as postulated by previous studies.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"59-63"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659273","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

Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family 遗传性嗜铬细胞瘤是von Hippel Lindau病（vHL）在儿童时期的主要表现形式--对一个家族中5名vHL患者的长期随访。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2024-09-23 DOI: 10.4274/jcrpe.galenos.2024.2024-2-1

Katarzyna Pasternak-Pietrzak, Agata Kozłowska, Elżbieta Moszczyńska

{"title":"Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family","authors":"Katarzyna Pasternak-Pietrzak, Agata Kozłowska, Elżbieta Moszczyńska","doi":"10.4274/jcrpe.galenos.2024.2024-2-1","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-2-1","url":null,"abstract":"Von Hippel-Lindau disease (vHL) is a hereditary, autosomal dominant syndrome manifested by a predisposition to the occurrence of benign and malignant neoplasms. The spectrum of vHL-related neoplasms includes: pheochromocytoma (PHEO), central nervous system and retinal hemangioblastomas, renal clear cell carcinoma, epididymal cystadenomas, and pancreatic neuroendocrine tumors, as well as visceral, especially renal and pancreatic, cysts. We report a single family including five patients with genetically confirmed vHL in which every member had PHEO diagnosed during pediatric care. The presented family had a missense variant in the VHL gene (exon 1, g.A451G, p.S80G) which has been connected with an increased risk of PHEO. Performing screening laboratory and imaging tests in patients with genetically confirmed vHL may help to avoid the occurrence of disease symptoms and to perform elective surgery under safe conditions. Due to the risk of coexisting pathologies and the complexity of the disease, patients with vHL require long-term care.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"12-19"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197089/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299186","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

Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder Xp21连续基因缺失综合征：一种罕见遗传疾病的诊断、治疗和文献综述。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2025-03-19 DOI: 10.4274/jcrpe.galenos.2025.2024-12-4

Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Aynur Bedel, Kürşat Çetin, Belgin Akcan Paksoy, Tarkan Kalkan, Halide Akbaş, Hale Ünver Tuhan, Mesut Parlak

{"title":"Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder","authors":"Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Aynur Bedel, Kürşat Çetin, Belgin Akcan Paksoy, Tarkan Kalkan, Halide Akbaş, Hale Ünver Tuhan, Mesut Parlak","doi":"10.4274/jcrpe.galenos.2025.2024-12-4","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-12-4","url":null,"abstract":"Xp21 contiguous gene deletion syndrome is an uncommon genetic condition associated with complex glycerol kinase deficiency (GK), congenital adrenal hypoplasia (NR0B1), Duchenne muscular dystrophy (DMD), and, in some cases, intellectual disability. Clinical findings vary based on the size of the deletion and the number of affected genes. To date, over 100 male patients with this syndrome have been reported, while the number of symptomatic female carriers is quite limited. In this article, we present the diagnosis and treatment process of a case exhibiting dysmorphic facial features, signs of adrenal insufficiency, pseudo-hypertriglyceridemia, and elevated creatine phosphokinase levels. The patient’s serum 17-hydroxyprogesterone levels were normal, and the adrenal glands were not observable via magnetic resonance imaging. An Xp21.2 deletion (DMD, NR0B1, GK, IL1RAPL1) was identified in the case. Treatment with hydrocortisone, fludrocortisone, and oral salt was arranged. This case highlights the rare yet significant clinical and genetic diversity of Xp21 contiguous gene deletion syndrome.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"83-91"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659281","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

Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report 经典先天性肾上腺增生症新生儿筛查连续4例假阴性1例。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2026-03-09 DOI: 10.4274/jcrpe.galenos.2025.2024-10-16

Patrick Rizzuto, Mariam Gangat, Ahmed Khattab, Ian Marshall

{"title":"Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report","authors":"Patrick Rizzuto, Mariam Gangat, Ahmed Khattab, Ian Marshall","doi":"10.4274/jcrpe.galenos.2025.2024-10-16","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-10-16","url":null,"abstract":"21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Salt-wasting CAH can present with life-threatening salt-wasting crises, underscoring the importance of universal newborn screening. We present a patient diagnosed with classical CAH despite four negative newborn screening (NBS). A male infant was born at 35 weeks gestation with birthweight 1470 grams following signs of placental insufficiency. While hospitalized in the neonatal intensive care unit (NICU), four NBS samples from days of life 2 to 38 were all within normal range, including on repeat analysis using fully integrated fluoroimmunoassay. After initially normal biochemical testing, hyponatremia and hyperkalemia developed by day of life (DOL) 26, responsive to sodium chloride supplementation. Following recurrent hyponatremia after a trial off supplementation after DOL 50, 17-hydroxyprogesterone measured by liquid chromatography-tandem mass spectrometry were reported by two different labs as 10,900 ng/dL and 11,200 ng/dL (normal range at DOL 50<2 ng/dL). Subsequent testing identified deletion of one CYP21A2 allele and a mutation, I172N, in the second. This report illustrates the importance of maintaining a high index of suspicion for classical forms of CAH in infants with persistent electrolyte disturbances despite negative NBS results.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"92-96"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147379298","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

Unraveling a Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? 揭开基因之谜：MAP3K7 能否成为 RAS 病的候选基因？病例展示。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-05-22 Epub Date: 2024-10-17 DOI: 10.4274/jcrpe.galenos.2024.2024-3-5

Sirmen Kızılcan Çetin, Zeynep Şıklar, Zehra Aycan, Elif Özsu, Serdar Ceylaner, Merih Berberoğlu

{"title":"Unraveling a Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies?","authors":"Sirmen Kızılcan Çetin, Zeynep Şıklar, Zehra Aycan, Elif Özsu, Serdar Ceylaner, Merih Berberoğlu","doi":"10.4274/jcrpe.galenos.2024.2024-3-5","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-3-5","url":null,"abstract":"Noonan syndrome (NS) diagnosis may be challenging because of diverse clinical manifestations. This case report highlights a novel role for MAP3K7 in NS. A 10.4-year-old female patient presented with short stature and clinical findings suggestive of RASopathy. Despite atypical facial features, the patient met two major van der Burgt diagnostic criteria. Initial genetic testing for known NS-associated genes did not find any variants. Later, whole exome sequencing identified a unique de novo heterozygous variant [c.65C>A, p.(P22H)] in MAP3K7. This variant, categorized as a variant of uncertain significance by the American College of Medical Genetics and Genomics criteria, raised questions about its potential role in NS. The patient’s clinical presentation deviated from classical manifestations of MAP3K7-associated syndromes, highlighting the complexity of MAP3K7 genetic and molecular mechanisms. Notably, this is the first case reported to associate MAP3K7 variants with NS. Despite the known challenges in NS diagnosis, proper management, including recombinant growth hormone therapy, is important to optimize growth potential. The case suggests that MAP3K7 may be a potential candidate gene for NS, but more functional genetic investigations are required to clarify the delicate interaction between genetic abnormalities, the RAS/mitogen-activated protein kinase pathway, and clinical manifestations observed in NS cases.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"30-36"},"PeriodicalIF":1.9,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478401","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 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