Clinical Pediatric Endocrinology最新文献

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome. FGD1的一种新型错义变体破坏了日本Aarskog-Scott综合征同胞FYVE结构域的关键半胱氨酸残基。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-01-28 DOI: 10.1297/cpe.2023-0027

Ikuko Takahashi, Atsuko Noguchi, Daiki Kondo, Yoko Sato, Hisato Suzuki, Mamiko Yamada, Kenjiro Kosaki, Tsutomu Takahashi

引用次数: 0

Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review. 伴有不自主运动的假性甲状旁腺功能减退症1B型：病例报告和文献综述。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-03-25 DOI: 10.1297/cpe.2023-0080

Junko Naganuma, Hiroshi Suzumura, Satomi Koyama, Miho Yaginuma, Yuji Fujita, Yoshiyuki Watabe, George Imataka, Keiko Matsubara, Masayo Kagami, Shigemi Yoshihara

{"title":"Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review.","authors":"Junko Naganuma, Hiroshi Suzumura, Satomi Koyama, Miho Yaginuma, Yuji Fujita, Yoshiyuki Watabe, George Imataka, Keiko Matsubara, Masayo Kagami, Shigemi Yoshihara","doi":"10.1297/cpe.2023-0080","DOIUrl":"10.1297/cpe.2023-0080","url":null,"abstract":"Pseudohypoparathyroidism (PHP) is a rare disorder characterized by convulsions, tetany, and sensory abnormalities caused by hypocalcemia due to parathyroid hormone (PTH) resistance. Only few patients present with involuntary movements. We report the case of a 7-yr-old girl with PHP and involuntary movements triggered by running. Initially, she was suspected of having paroxysmal kinesigenic dyskinesia and was treated with carbamazepine (CBZ). Involuntary movements were reduced. However, 2 months post-treatment, she experienced convulsions during a fever. Blood tests and brain computed tomography revealed hypocalcemia, hyperphosphatemia, elevated intact PTH, and calcifications in the frontal cortex and basal ganglia. The patient showed no features of Albright's hereditary osteodystrophy. The involuntary movements disappeared after the discontinuation of CBZ and initiation of calcium and active vitamin D preparations. Methylation-specific multiplex ligation-dependent probe amplification for the GNAS region and microsatellite analysis of chromosome 20 led to the diagnosis of PHP1B caused by epimutation. In 15 reported cases, with or without intracranial calcification, PHP-associated involuntary movements disappeared or became less severe with treatment for hypocalcemia; in eight of 11 cases, they were triggered by exercise or movement. PHP-associated hypocalcemia can trigger exercise-induced involuntary movements owing to lowered serum ionized calcium levels. In such patients, early blood tests are vital for the differential diagnosis of PHP.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11234180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589857","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 novel GNAS-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism. 一名患有假性甲状旁腺功能亢进症1A型的女孩及其患有假性甲状旁腺功能亢进症的母亲的新型GNAS-Gsα剪接供体位点变异。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-01-06 DOI: 10.1297/cpe.2023-0065

Shinichiro Sano, Shotaro Iwamoto, Rie Matsushita, Yohei Masunaga, Yasuko Fujisawa, Tsutomu Ogata

引用次数: 0

A case of long-term survival of SADDAN treated with growth hormone for marked short stature. 一例因明显矮小而接受生长激素治疗的 SADDAN 长期存活病例。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-03-10 DOI: 10.1297/cpe.2023-0068

Junko Kanno, Yu Katata, Sayaka Kawashima, Hirohito Shima, Chisumi Sogi, Ikumi Umeki, Dai Suzuki, Hasumi Tomita, Miki Kamimura, Akiko Saito-Hakoda, Ikuma Fujiwara, Takushi Hanita, Atsuo Kikuchi

{"title":"A case of long-term survival of SADDAN treated with growth hormone for marked short stature.","authors":"Junko Kanno, Yu Katata, Sayaka Kawashima, Hirohito Shima, Chisumi Sogi, Ikumi Umeki, Dai Suzuki, Hasumi Tomita, Miki Kamimura, Akiko Saito-Hakoda, Ikuma Fujiwara, Takushi Hanita, Atsuo Kikuchi","doi":"10.1297/cpe.2023-0068","DOIUrl":"10.1297/cpe.2023-0068","url":null,"abstract":"Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a bone dysplasia caused by a pathogenic variant of fibroblast growth factor receptor 3 (FGFR3). Pathogenic variants in FGFR3 also cause thanatophoric dysplasia (TD) and achondroplasia. Although the findings of SADDAN and TD during the fetal and neonatal periods are similar, they differ in their long-term prognoses. We conducted FGFR3 analysis in one male patient because of the difficulty in differentiating SADDAN from TD during the neonatal period. We found that the patient had a pathogenic variant, p. Lys650Met, which was similar to that previously reported in patients with SADDAN. Reports on long-term survival in patient with SADDAN are scarce, and there have been no reports of treatment with GH. We administered GH therapy for a markedly short stature. After treatment, his height increased by 4 cm each year for 4 years, the frequency of hospitalizations due to respiratory failure decreased, and the health improved. FGFR3 analysis is useful for diagnosing SADDAN during the early neonatal period. GH therapy may have contributed to the patient's long-term survival.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11234192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589813","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

Potential indication of chemotherapy for hypodipsia and arginine vasopressin deficiency secondary to hypothalamic-pituitary Langerhans cell histiocytosis: a case report and literature review. 化疗治疗下丘脑-垂体朗格汉斯细胞组织细胞增生症继发性低尿症和精氨酸加压素缺乏症的潜在适应症：病例报告和文献综述。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-04-13 DOI: 10.1297/cpe.2024-0002

Masashi Ota, Takeshi Sato, Satsuki Nakano, Fumito Yamazaki, Tomohiro Ishii, Tomonobu Hasegawa

{"title":"Potential indication of chemotherapy for hypodipsia and arginine vasopressin deficiency secondary to hypothalamic-pituitary Langerhans cell histiocytosis: a case report and literature review.","authors":"Masashi Ota, Takeshi Sato, Satsuki Nakano, Fumito Yamazaki, Tomohiro Ishii, Tomonobu Hasegawa","doi":"10.1297/cpe.2024-0002","DOIUrl":"10.1297/cpe.2024-0002","url":null,"abstract":"Hypothalamic-pituitary Langerhans cell histiocytosis (HP-LCH) is often associated with arginine vasopressin deficiency (AVD). Patients with AVD caused by HP-LCH rarely develop an impaired osmotic threshold for thirst (OTT). Improvement in OTT among such patients has not been reported in the literature. To our knowledge, here we report the first case of AVD due to HP-LCH in which hypodipsia resolved during chemotherapy. A nine-year-old Japanese girl presented with polydipsia, polyuria, anorexia, and hypernatremia (149.8 mEq/L) and was diagnosed with AVD secondary to HP-LCH. Visual analog scale examination showed a reduced OTT following the water deprivation test. During chemotherapy for Langerhans cell histiocytosis (LCH), serum sodium concentrations became stable between 138.9 and 142.9 mEq/L under the replacement of desmopressin. Repeated visual analog scale examinations showed that she experienced a sense of thirst at a serum sodium concentration of 142.3-144.6 mEq/L, at which she did not experience any thirst prior to the initiation of chemotherapy. These data suggest that chemotherapy directly improved the OTT in our patient. Improved mechanical compression or infiltration of the hypothalamus related to OTT may lead to the recovery of the sense of thirst. This report highlights the potential role of chemotherapy for solitary HP-LCH in patients with hypodipsia and AVD.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11234190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589843","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

Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome. 116 名日本努南综合征患者人体测量参数的遗传背景和基因型-表型关系。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-02-26 DOI: 10.1297/cpe.2024-0005

Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kawai

{"title":"Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome.","authors":"Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kawai","doi":"10.1297/cpe.2024-0005","DOIUrl":"https://doi.org/10.1297/cpe.2024-0005","url":null,"abstract":"Noonan syndrome (NS) is caused by pathogenic variants in genes encoding components of the RAS/MAPK pathway and presents with a number of symptoms, including characteristic facial features, congenital heart diseases, and short stature. Advances in genetic analyses have contributed to the identification of pathogenic genes in NS as well as genotype-phenotype relationships; however, updated evidence for the detection rate of pathogenic genes with the inclusion of newly identified genes is lacking in Japan. Accordingly, we examined the genetic background of 116 individuals clinically diagnosed with NS and the frequency of short stature. We also investigated genotype-phenotype relationships in the context of body mass index (BMI). Genetic testing revealed the responsible variants in 100 individuals (86%), where PTPN11 variants were the most prevalent (43%) and followed by SOS1 (12%) and RIT1 (9%). The frequency of short stature was the lowest in subjects possessing RIT1 variants. No genotype-phenotype relationships in BMI were observed among the genotypes. In conclusion, this study provides evidence for the detection rate of pathogenic genes and genotype-phenotype relationships in Japanese patients with NS, which will be of clinical importance for accelerating our understanding of the genetic backgrounds of Japanese patients with NS.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10985011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140854171","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

Pitfalls in estradiol measurement by electrochemiluminescence immunoassay: A case study of a prepubertal girl with a falsely elevated serum estradiol level. 电化学发光免疫测定法测定雌二醇的误区：一个青春期前女孩血清雌二醇水平假性升高的病例研究。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-01-28 DOI: 10.1297/cpe.2023-0054

Kyohei Furusawa, Rumi Hachiya, Hironori Shibata, Noboru Uchida, Goro Sasaki, Hiroyuki Fukushima, Tomohiro Ishii, Tomonobu Hasegawa

引用次数: 0

Incidence of menstrual cycle abnormalities and polycystic ovary syndrome in female Japanese patients with type 1 diabetes mellitus. The role of androgens. 日本女性 1 型糖尿病患者月经周期异常和多囊卵巢综合征的发病率。雄激素的作用

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-02-25 DOI: 10.1297/cpe.2024-0011

Tatsuya Nakamichi, Tomoyuki Kawamura, Satsuki Nishigaki, Shino Odagiri, Yoshihiko Yuyama, Naoko Nishikawa-Nakamura, Yuko Hotta, Takashi Hamazaki

{"title":"Incidence of menstrual cycle abnormalities and polycystic ovary syndrome in female Japanese patients with type 1 diabetes mellitus. The role of androgens.","authors":"Tatsuya Nakamichi, Tomoyuki Kawamura, Satsuki Nishigaki, Shino Odagiri, Yoshihiko Yuyama, Naoko Nishikawa-Nakamura, Yuko Hotta, Takashi Hamazaki","doi":"10.1297/cpe.2024-0011","DOIUrl":"https://doi.org/10.1297/cpe.2024-0011","url":null,"abstract":"Type 1 diabetes mellitus (T1DM) adversely affects gonadal function. This study aimed to define the characteristics and factors associated with menstrual cycle abnormalities and polycystic ovary syndrome (PCOS) in Japanese patients with T1DM. Our study enrolled 157 patients, including 55 with oligomenorrhea (prolonged menstrual cycle) and 102 without oligomenorrhea. LH/FSH ratio (p = 0.04) and total testosterone levels (p = 0.03) were significantly higher in the oligomenorrhea group than in the non-oligomenorrhea group. No significant differences were found between the two groups regarding age at menarche, age at T1DM diagnosis, treatment, glycated hemoglobin, or total daily insulin dose. Of the 55 patients in the oligomenorrhea group, 27 were diagnosed with PCOS based on the Rotterdam criteria. We concluded that female patients with T1DM, as well as abnormal menstrual cycles and hyperandrogenism, may suffer from undiagnosed PCOS and should be referred to a gynecologist for full assessment, diagnosis, and treatment.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10985013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140874532","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 characteristics in children with maturity-onset diabetes of the young detected by urine glucose screening at schools in the Tokyo Metropolitan Area. 东京都内学校通过尿糖筛查发现的成熟期糖尿病儿童的临床特征。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-04-15 DOI: 10.1297/cpe.2024-0009

Tatsuhiko Urakami, Hiroki Terada, Yusuke Mine, Masako Aoki, Junichi Suzuki, Ichiro Morioka

{"title":"Clinical characteristics in children with maturity-onset diabetes of the young detected by urine glucose screening at schools in the Tokyo Metropolitan Area.","authors":"Tatsuhiko Urakami, Hiroki Terada, Yusuke Mine, Masako Aoki, Junichi Suzuki, Ichiro Morioka","doi":"10.1297/cpe.2024-0009","DOIUrl":"10.1297/cpe.2024-0009","url":null,"abstract":"This study aimed to examine the clinical characteristics of young children diagnosed with maturity-onset diabetes (MODY) using urine glucose screening at schools. The study participants were 70 non-obese children who were clinically diagnosed with type 2 diabetes through urine glucose screening at schools in Tokyo between 1974 and 2020. Of these children, 55 underwent genetic testing, and 21 were finally diagnosed with MODY: MODY2 in eight, MODY3 in eight, MODY1 in four and MODY5 in one. A family history of diabetes was found in 76.2% of the patients. Fasting plasma glucose levels did not differ between the different MODY subtypes, while patients with MODY 3, 1, and 5 had significantly higher levels of glycosylated hemoglobin and 2-hour glucose in an oral glucose tolerance test than those with MODY2. In contrast, most patients exhibit mild insulin resistance and sustained β-cell function. In the initial treatment, all patients with MODY2 were well controlled with diet and exercise, whereas the majority of those with MODY3, 1, and 5 required pharmacological treatment within one month of diagnosis. In conclusion, urine glucose screening in schools appears to be one of the best opportunities for early detection of the disease and providing appropriate treatment to patients.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11234186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589840","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

Severely obese 14-year-old boy with central sleep apnea several years after head trauma. 严重肥胖的 14 岁男孩，头部外伤数年后出现中枢性睡眠呼吸暂停。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-02-23 DOI: 10.1297/cpe.2023-0053

Yusuke Moritani, Takumi Shibazaki, Hotaru Kobori, Haruka Morota, Chizuko Nakamura, Yozo Nakazawa

{"title":"Severely obese 14-year-old boy with central sleep apnea several years after head trauma.","authors":"Yusuke Moritani, Takumi Shibazaki, Hotaru Kobori, Haruka Morota, Chizuko Nakamura, Yozo Nakazawa","doi":"10.1297/cpe.2023-0053","DOIUrl":"https://doi.org/10.1297/cpe.2023-0053","url":null,"abstract":"Central sleep apnea (CSA) is rare in older children. Although CSA mostly arises from neurological diseases such as Chiari malformation, the frequency of CSA is significantly higher in obese children. Herein, we describe the case of a 14-yr-old boy who presented with CSA secondary to severe obesity and a history of traumatic lateral medullary syndrome at 8 yr of age. Polysomnography revealed severe sleep apnea syndrome with apnea-hypopnea index of 41.4 per hour and central apnea index of 8.9 per hour. Magnetic resonance imaging of the head showed no new brainstem or cerebellar infarcts; however, old changes in the cerebellar infarction persisted. Obesity is primarily associated with obstructive sleep apnea. However, obesity can result in CSA through pharyngeal collapse and the reduction of oxygen reserves caused by reduced thoracic volume, which suppresses respiratory center stimulation. Because the respiratory center disorder owing to head injury sequelae improved after the acute stage, obesity was deemed the cause of CSA in this case. Hence, children with severe obesity may require CSA monitoring.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10985009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856655","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