Clinical Pediatric Endocrinology最新文献_第8页

Analysis of the distribution of adult height standard deviation scores in relation to prepubertal height standard deviation scores using longitudinal growth data: -Investigation of the catch-up rates of children with short stature to attain normal adult height. 使用纵向生长数据分析成人身高标准差分数与青春期前身高标准差得分的分布：-调查身材矮小儿童达到正常成人身高的追赶率。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 Epub Date: 2023-08-17 DOI: 10.1297/cpe.2023-0025

Toshiaki Tanaka, Susumu Yokoya, Keisuke Yoshii

{"title":"Analysis of the distribution of adult height standard deviation scores in relation to prepubertal height standard deviation scores using longitudinal growth data: -Investigation of the catch-up rates of children with short stature to attain normal adult height.","authors":"Toshiaki Tanaka, Susumu Yokoya, Keisuke Yoshii","doi":"10.1297/cpe.2023-0025","DOIUrl":"10.1297/cpe.2023-0025","url":null,"abstract":"Using the longitudinal growth data of 13,809 individuals in the Akita Prefecture, the percentage distributions of their adult height (AH) standard deviation scores (SDS) in relation to their prepubertal height SDS were obtained. The AH SDS increased with negative prepubertal height SDS and decreased with positive prepubertal height SDS, showing that a greater amount of change was associated with a greater interval of the prepubertal height SDS from the mean. The proportions of individuals who achieved normal AH stratified by prepubertal height SDS were as follows: 67.1%, in the group with prepubertal height SDS of -2.5 < to ≤ -2.0 SD, 46.0% in the group with -3.0 < to ≤ -2.5 SD, 75.2% in the group with +2.0 ≤ to < +2.5 SD, and 55.1% in the group with +2.5 ≤ to < +3.0 SD. Of all participants with short stature at prepuberty, 58.4%, 33.8%, 8.3%, and 0% of those with prepubertal height SDS of ≤ -2.0 SD, ≤ -2.5 SD, ≤ -3.0 SD, and ≤ -3.5 SD attained normal AH, respectively. On average, it is difficult for children with prepubertal height SDS of ≤ -2.5 SD to attain normal AH.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d1/70/cpe-32-206.PMC10568575.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41241676","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

Utility of basal and peak TSH values in TRH stimulation testing for predicting the long-term therapeutic prognosis of primary congenital hypothyroidism. TSH基础值和峰值在TRH刺激试验中预测原发性先天性甲状腺功能减退症长期治疗预后的作用。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 Epub Date: 2023-06-23 DOI: 10.1297/cpe.2023-0020

Kazuhiro Shimura, Kento Ikegawa, Yukihiro Hasegawa

{"title":"Utility of basal and peak TSH values in TRH stimulation testing for predicting the long-term therapeutic prognosis of primary congenital hypothyroidism.","authors":"Kazuhiro Shimura, Kento Ikegawa, Yukihiro Hasegawa","doi":"10.1297/cpe.2023-0020","DOIUrl":"10.1297/cpe.2023-0020","url":null,"abstract":"In Japan, most neonates undergo screening for congenital hypothyroidism (CH). A TRH stimulation test (TRH-T) may be performed after initial treatment as a useful method for reevaluating the patient's thyroid status. However, no studies have compared basal and peak TSH values in TRH-T in patients with long-term follow-up. This was a retrospective and observational study. The inclusion criteria were as follows: (1) CH diagnosis based on positive newborn screening, (2) follow-up > 15 yr, and (3) TRH-T after LT4 discontinuation. The participants were divided into a no-treatment group (No-T group) and a treatment group (T group). The No-T and T groups included 14 and nine patients, respectively. The age at TRH-T was 5.38 yr for the No-T group and 4.25 yr for the T group, with no significant difference. The basal and peak TSH levels were significantly lower in the No-T group. The areas under the Receiver operating characteristic curve for basal and peak TSH values were 0.984 and 0.905, respectively. When the basal TSH level was under 4.594 IU/mL, the No-T group had a sensitivity of 1.00 and a specificity of 0.93. Basal TSH levels alone may be sufficient for predicting the long-term therapeutic prognosis of patients with CH.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c9/55/cpe-32-200.PMC10568572.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41241680","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 thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency 甲状腺腺瘤青春期男性甲状腺结合球蛋白缺乏的甲状腺腺瘤

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0031

Heeyung Kim, Yasuhiro Naiki, Megumi Iwahashi-Odano, Satoshi Narumi, Koichi Ito, Akira Ishiguro

引用次数: 0

Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision). 新生儿先天性甲状腺功能减退症筛查指南（2021 年修订版）》。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 Epub Date: 2022-12-04 DOI: 10.1297/cpe.2022-0063

Keisuke Nagasaki, Kanshi Minamitani, Akie Nakamura, Hironori Kobayashi, Chikahiko Numakura, Masatsune Itoh, Yuichi Mushimoto, Kaori Fujikura, Masaru Fukushi, Toshihiro Tajima

{"title":"Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).","authors":"Keisuke Nagasaki, Kanshi Minamitani, Akie Nakamura, Hironori Kobayashi, Chikahiko Numakura, Masatsune Itoh, Yuichi Mushimoto, Kaori Fujikura, Masaru Fukushi, Toshihiro Tajima","doi":"10.1297/cpe.2022-0063","DOIUrl":"10.1297/cpe.2022-0063","url":null,"abstract":"Purpose of developing the guidelines: Newborn screening (NBS) for congenital hypothyroidism (CH) was started in 1979 in Japan, and early diagnosis and treatment improved the intelligence prognosis of CH patients. The incidence of CH was once about one in 5,000-8,000 births, but has been increased with diagnosis of subclinical CH. The disease requires continuous treatment and specialized medical facilities should conduct differential diagnosis and treatment in patients who are positive by NBS to avoid unnecessary treatment. The Guidelines for Mass Screening of Congenital Hypothyroidism (1998 version) were developed by the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology in 1998. Subsequently, the guidelines were revised in 2014. Here, we have added minor revisions to the 2014 version to include the most recent findings. Target disease/conditions: Primary congenital hypothyroidism. Users of the Guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, physicians referring pediatric practitioners, general physicians, laboratory technicians in charge of mass screening, and patients.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2e/b1/cpe-32-026.PMC9887297.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10747014","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

Hyperandrogenism correlates with psychological symptoms in adolescents with polycystic ovary syndrome 青少年多囊卵巢综合征患者雄激素过度与心理症状的相关性

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-03-19 DOI: 10.1297/cpe.2022-0010

Z. Donbaloğlu, H. Tuhan, Ö. Çoban, D. Kızılay, Eren Ismailoğlu, A. Önder, S. Acar, A. Bedel, E. Çetiner, B. Singin, Harun Erdem, M. Parlak

{"title":"Hyperandrogenism correlates with psychological symptoms in adolescents with polycystic ovary syndrome","authors":"Z. Donbaloğlu, H. Tuhan, Ö. Çoban, D. Kızılay, Eren Ismailoğlu, A. Önder, S. Acar, A. Bedel, E. Çetiner, B. Singin, Harun Erdem, M. Parlak","doi":"10.1297/cpe.2022-0010","DOIUrl":"https://doi.org/10.1297/cpe.2022-0010","url":null,"abstract":"Abstract. This study aimed to analyze the depressive and anxiety states of adolescent girls with polycystic ovary syndrome (PCOS). This was a cross-sectional, multicenter, case–control study. A total of 100 participants (PCOS group, 51; control group, 49) aged 13–18 yr were included in the study. Body mass index was higher in patients with PCOS (P = 0.002). In the PCOS group, 28.5% of the patients had moderate-to-severe depressive symptoms, whereas the incidence was lower in controls (8.3%, P = 0.021). The State-Trait Anxiety Inventory (STAI)-State, STAI-Trait, and physical, psychosocial, and total Pediatric Quality of Life Inventory PedsQL scores were higher in the PCOS group, suggesting that anxiety was more common and the quality of life was worse in patients with PCOS than in healthy participants (P = 0.01, P = 0.03, P = 0.02, P = 0.046, and P = 0.047, respectively). The serum free testosterone (fT) levels were positively correlated with the depression and anxiety scores and negatively correlated with the psychosocial PedsQL scores. In conclusion, adolescent girls diagnosed with PCOS demonstrated higher depressive and anxiety symptoms and lower psychosocial quality of life scores than their healthy counterparts. A relationship was found between the fT level and all psychological measures.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43305716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency 高剂量氢化可的松治疗是暂时需要的女性新生儿21羟化酶缺乏症

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-03-05 DOI: 10.1297/cpe.2021-0066

Y. Kawasaki, Takeshi Sato, Satsuki Nakano, T. Usui, S. Narumi, T. Ishii, T. Hasegawa

{"title":"High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency","authors":"Y. Kawasaki, Takeshi Sato, Satsuki Nakano, T. Usui, S. Narumi, T. Ishii, T. Hasegawa","doi":"10.1297/cpe.2021-0066","DOIUrl":"https://doi.org/10.1297/cpe.2021-0066","url":null,"abstract":"Abstract. For salt-wasting 21-hydroxylase deficiency (21OHD), fludrocortisone (FC) is usually supplemented at 0.05–0.2 mg/d dose. To date, no report has described 21OHD neonates requiring > 0.4 mg/d of FC. Our female 21OHD patient was lethargic and experienced weight loss with hyponatremia (133 mEq/L), hyperkalemia (6.5 mEq/L), and elevated active renin concentration (ARC, 1942.2 pg/mL) at 6 days of life. Hydrocortisone and FC replacement were initiated. FC dose was gradually increased to 0.4 mg/d at 21 days of life, but her hyperkalemia (6.4 mEq/L) and high ARC (372.3 pg/mL) persisted. We increased FC to 0.6 mg/d and used a low-potassium and high-sodium formula. Hyperkalemia subsequently improved. At 33 days of life, the ARC decreased to 0.6 pg/mL and FC dosage was gradually decreased. At 3 months of age, the low-potassium and high-sodium formula was discontinued, but the serum potassium level was normal and ARC remained low at 0.1 mg/d of FC. We speculated that severe mineralocorticoid resistance was the reason why her hyperkalemia persisted even with 0.4 mg/d of FC; however, the pathophysiology of transiently severe resistance to FC in this patient is unknown. In conclusion, 21OHD neonates may show severe salt-wasting that transiently require > 0.4 mg/d of FC.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48869186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: a case report 口服去氨加压素崩解片治疗AVPR2突变部分先天性肾源性尿崩症1例疗效观察

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-02-18 DOI: 10.1297/cpe.2021-0032

K. Ikegawa, R. Hachiya, K. Akiba, Y. Hasegawa

{"title":"Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: a case report","authors":"K. Ikegawa, R. Hachiya, K. Akiba, Y. Hasegawa","doi":"10.1297/cpe.2021-0032","DOIUrl":"https://doi.org/10.1297/cpe.2021-0032","url":null,"abstract":"Abstract. Congenital nephrogenic diabetes insipidus (NDI) is a rare disease that causes polydipsia and polyuria, and there are currently no effective treatments for most cases, particularly severe ones. The present report describes the case of a 1-yr-5-mo-old male patient with partial congenital NDI who was successfully treated with oral disintegrating 1-deamino-8-D-arginine vasopressin (DDAVP). The patient presented with poor weight gain and polydipsia (fluid, 1.5 L/d) and received a diagnosis of NDI after genetic analysis revealed an AVPR2 mutation (c.383A>C, p.Y128S). His water-restricted urine osmolality increased from 360 mOsm/kg/H2O to 667 mOsm/kg/H2O after subcutaneous AVP injection, indicating that he had some urine concentrating ability. Oral disintegrating DDAVP therapy was started at 360 µg/d with hydrochlorothiazide and increased to 720 µg/d without any adverse effects. A 30% decrease in urine output and water intake was followed by an increase in body weight. The present study is the first to report the effectiveness and safety of oral disintegrating DDAVP in a patient with partial congenital NDI due to an AVPR2 gene mutation. The severity of NDI at which DDAVP therapy is the most effective remains to be determined.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48807134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe hypernatremia in soft drink ketoacidosis and hyperglycemic hyperosmolar state at the onset of type 2 diabetes mellitus: a case series of three adolescents 2型糖尿病发病时伴有软饮料酮症酸中毒和高血糖高渗状态的严重高钠血症:3例青少年病例系列

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-02-16 DOI: 10.1297/cpe.2021-0075

Soo Jeong Choo, Hyun Gyung Lee, C. Kim, E. Yang

{"title":"Severe hypernatremia in soft drink ketoacidosis and hyperglycemic hyperosmolar state at the onset of type 2 diabetes mellitus: a case series of three adolescents","authors":"Soo Jeong Choo, Hyun Gyung Lee, C. Kim, E. Yang","doi":"10.1297/cpe.2021-0075","DOIUrl":"https://doi.org/10.1297/cpe.2021-0075","url":null,"abstract":"Abstract. Diabetic ketoacidosis (DKA) and hyperglycemic hyperosmolar state (HHS) are diabetic emergencies. Some patients with a hyperglycemic crisis can present with an overlap of DKA and HHS. The coexistence of DKA and HHS is associated with higher mortality than in isolated DKA and HHS. In addition, electrolyte derangements caused by global electrolyte imbalance are associated with potentially life-threatening complications. Here, we describe three cases of mixed DKA and HHS with severe hypernatremia at the onset of type 2 diabetes mellitus. All patients had extreme hyperglycemia and hyperosmolarity with acidosis at the onset of diabetes mellitus. They consumed 2 to 3 L/d of high-carbohydrate drinks prior to admission to relieve thirst. They showed severe hypernatremia with renal impairment. Two patients recovered completely without any complications, while one died. Severe hypernatremia with mixed DKA and HHS is rare. However, it may be associated with excess carbohydrate beverage consumption. Reduced physical activity during the COVID19 pandemic and unhealthy eating behaviors worsened the initial presentation of diabetes mellitus. We highlight the impact of lifestyle factors on mixed DKA and HHS.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49191620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations IGF-1受体(IGF1R)杂合突变导致的各种矮小表型

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-02-07 DOI: 10.1297/cpe.2021-0064

Yuki Kawashima-Sonoyama, T. Hotsubo, T. Hamajima, N. Hamajima, M. Fujimoto, N. Namba, S. Kanzaki

{"title":"Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations","authors":"Yuki Kawashima-Sonoyama, T. Hotsubo, T. Hamajima, N. Hamajima, M. Fujimoto, N. Namba, S. Kanzaki","doi":"10.1297/cpe.2021-0064","DOIUrl":"https://doi.org/10.1297/cpe.2021-0064","url":null,"abstract":"Abstract. Type 1 insulin-like growth factor receptor (IGF1R) plays an important role in normal fetal and postnatal growth. Over 30 pathogenic variants of IGF1R have been identified in patients with short stature. Yet, 20 years after the first report, a variety of phenotypes remain poorly defined. We analyzed the genetic and clinical data and responses to GH therapy in 11 patients using results from questionnaires. Eight of the 11 patients have already been reported in previous articles, and all of the identified mutations were heterozygous. The patients exhibited various phenotypes. At least two patients did not meet the criteria for GH treatment for small for gestational age (SGA) short stature, and two more patients showed lower serum IGF1 levels. Nine of the 11 patients had thin upper lips. Five patients with heterozygous IGF1R treated with GH exhibited similar height gains to those reported in previous Japanese studies on SGA short stature, which also led to extremely high serum IGF1 levels. Patients with short stature due to IGF1R mutations exhibit various phenotypes. Their presentation at diagnosis may be indistinguishable from common short stature. More specific clinical scoring that considers elevated IGF1 levels after GH treatment is needed to better detect IGF1R mutations.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41732566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism 免疫球蛋白超家族1（IGSF1）的一种新的无义变体（p.Arg1293Ter）与先天性促性腺功能减退症和中枢性甲状腺功能减退症有关

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-14 DOI: 10.1297/cpe.2021-0071

T. Tajima, Makiko Oguma

引用次数: 1