Clinical Pediatric Endocrinology最新文献_第10页

Serum iron is negatively correlated with the HbA1c level in children and adolescents with type 1 diabetes mellitus. 儿童和青少年1型糖尿病患者血清铁与HbA1c水平呈负相关。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-09-02 DOI: 10.1297/cpe.2022-0012

I Wayan Eka Satriawibawa, I Made Arimbawa, Ketut Ariawati, Ida Bagus Gede Suparyatha, I Gusti Ngurah Sanjaya Putra, I Nyoman Budi Hartawan

{"title":"Serum iron is negatively correlated with the HbA1c level in children and adolescents with type 1 diabetes mellitus.","authors":"I Wayan Eka Satriawibawa, I Made Arimbawa, Ketut Ariawati, Ida Bagus Gede Suparyatha, I Gusti Ngurah Sanjaya Putra, I Nyoman Budi Hartawan","doi":"10.1297/cpe.2022-0012","DOIUrl":"https://doi.org/10.1297/cpe.2022-0012","url":null,"abstract":"Although mainly affected by the blood glucose levels, the level of HbA1c could be influenced by other important factors, such as an iron deficiency, which is commonly found in children with type 1 diabetes mellitus (T1DM). However, a clinical judgment could not be established, as previous studies still reported conflicting results and lack of data regarding Indonesia. We aimed to evaluate the correlation between the serum iron and HbA1c levels in children with T1DM. This single-center cross-sectional study was conducted from February to October 2020 at Sanglah Hospital, Bali, Indonesia. Patients aged 1-18 yr were included in this study. The HbA1c and serum iron levels were evaluated in the blood samples. Spearman and partial correlation analyses were used to analyze the correlations between variables. The statistical significance was set at P < 0.05. Thirty-three subjects were analyzed, with a mean age of 11.24 ± 3.76 yr. Low serum iron and poor glycemic index were found in 54.5% and 69.7% of the subjects, respectively. Spearman correlation analysis revealed a low negative correlation between the serum iron and HbA1c levels (Spearman's rho = -0.376, P = 0.031). A partial correlation showed a moderate negative correlation (r = -0.473, P = 0.013) after adjusting for confounding variables. This study found a moderate negative correlation between the serum iron and HbA1c level in children and adolescents with T1DM.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 4","pages":"242-249"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c3/0c/cpe-31-242.PMC9637419.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40714822","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 causes of central precocious puberty. 中枢性性早熟的遗传原因。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-05-29 DOI: 10.1297/cpe.2022-0021

Toshihiro Tajima

{"title":"Genetic causes of central precocious puberty.","authors":"Toshihiro Tajima","doi":"10.1297/cpe.2022-0021","DOIUrl":"https://doi.org/10.1297/cpe.2022-0021","url":null,"abstract":"Central precocious puberty (CPP) is a condition in which the hypothalamus-pituitary-gonadal system is activated earlier than the normal developmental stage. The etiology includes organic lesions in the brain; however, in the case of idiopathic diseases, environmental and/or genetic factors are involved in the development of CPP. A genetic abnormality in KISS1R, that encodes the kisspeptin receptor, was first reported in 2008 as a cause of idiopathic CPP. Furthermore, genetic alterations in KISS1, MKRN3, DLK1, and PROKR2 have been reported in idiopathic and/or familial CPP. Of these, MKRN3 has the highest frequency of pathological variants associated with CPP worldwide; but, abnormalities in MKRN3 are rare in patients in East Asia, including Japan. MKRN3 and DLK1 are maternal imprinting genes; thus, CPP develops when a pathological variant is inherited from the father. The mechanism of CPP due to defects in MKRN3 and DLK1 has not been completely clarified, but it is suggested that both may negatively control the progression of puberty. CPP due to such a single gene abnormality is extremely rare, but it is important to understand the mechanisms of puberty and reproduction. A further development in the genetics of CPP is expected in the future.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 3","pages":"101-109"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/74/4c/cpe-31-101.PMC9297165.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40694814","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: 4

Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant. 部分肾源性尿崩症伴精氨酸抗利尿素受体2基因变异。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2021-11-01 DOI: 10.1297/cpe.2021-0029

Atsushi Ishida, Haruo Mizuno, Kohei Aoyama, Shiori Sasaki, Yutaka Negishi, Takeshi Arakawa, Takayasu Mori

{"title":"Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.","authors":"Atsushi Ishida, Haruo Mizuno, Kohei Aoyama, Shiori Sasaki, Yutaka Negishi, Takeshi Arakawa, Takayasu Mori","doi":"10.1297/cpe.2021-0029","DOIUrl":"https://doi.org/10.1297/cpe.2021-0029","url":null,"abstract":"X-linked nephrogenic diabetes insipidus (NDI) is caused by variations in arginine vasopressin receptor 2 (AVPR2). Some patients show partial resistance to arginine vasopressin (AVP). A 19-month-old Japanese boy presented with polydipsia since infancy. His mother had a history of polydipsia during pregnancy, and his maternal granduncle also had polydipsia. Intermediate urine osmolality and markedly high plasma AVP levels were observed in the water deprivation test. Subsequent pitressin administration caused no further elevation in urine osmolality. We diagnosed the patient with partial NDI, initiated therapy with hydrochlorothiazide, and placed him on a low-sodium diet. Although his urine volume decreased by 20-30% after the initiation of therapy, progressive hydronephrosis and growth retardation developed 2 years later. We investigated his genetic background by multiplex targeted sequencing of genes associated with inherited renal diseases, including AVPR2 and aquaporin-2 (AQP2). We identified a hemizygous missense variant in AVPR2 NM_000054:c.371A>G,p.(Tyr124Cys) in the boy and a heterozygous variant in the mother at the same locus. Distinguishing partial NDI from primary polydipsia is difficult because of its mild symptoms. Markedly elevated plasma AVP levels with intermediate urine osmolality may suggest partial NDI, and genetic analysis can be useful for such patients.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 1","pages":"44-49"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/19/88/cpe-31-044.PMC8713061.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39660864","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: 1

Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis. 12岁青少年新发1型糖尿病合并糖尿病酮症酸中毒尿路结石1例。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-06-08 DOI: 10.1297/cpe.2021-0069

Kikumi Ushijima-Fuchino, Yuko Koga, Satoko Umino, Junko Nishioka, Junichiro Araki, Shuichi Yatsuga, Yushiro Yamashita

{"title":"Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis.","authors":"Kikumi Ushijima-Fuchino, Yuko Koga, Satoko Umino, Junko Nishioka, Junichiro Araki, Shuichi Yatsuga, Yushiro Yamashita","doi":"10.1297/cpe.2021-0069","DOIUrl":"https://doi.org/10.1297/cpe.2021-0069","url":null,"abstract":"Dehydration and acidosis increase the risk for urinary stone formation. Urinary stones have been reported in three pediatric cases of diabetic ketoacidosis (DKA). A 24-h urine collection was performed for two of the three children. One patient had high urine sodium levels, while the other had low urine citrate excretion. We report the case of a 12-yr-old adolescent boy with urinary stones, new-onset type 1 diabetes mellitus (T1D), and DKA, excluding other metabolic disorders. After DKA was diagnosed, the patient received a 0.9% saline bolus and continuous insulin infusion. Hyperglycemia and ketoacidosis were well-controlled on the third day after admission. However, the patient developed abdominal pain radiating to the back. Urinary stones were suspected, and a urinalysis was performed. The patient's urine revealed significant elevation in red blood cells and calcium oxalate crystals. Computed tomography revealed a high-density left ureteric mass, suggestive of a urinary stone. Although both the previously reported pediatric cases involved metabolic diseases, additional tests in this patient excluded metabolic diseases other than T1D. DKA may be related to the formation of calcium oxalate crystals owing to dehydration and acidosis. Therefore, physicians should consider urinary stone formation in DKA patients.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 3","pages":"199-204"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d4/95/cpe-31-199.PMC9297177.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40694819","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 COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta. 在成骨不全患者中发现一种新的COL1A1缺失/插入致病性变异。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-06-17 DOI: 10.1297/cpe.2022-0027

Chieko Yamada, Takuo Kubota, Takeshi Ishimi, Shinji Takeyari, Kenichi Yamamoto, Hirofumi Nakayama, Yasuhisa Ohata, Makoto Fujiwara, Taichi Kitaoka, Keiichi Ozono

引用次数: 0

Transient central diabetes insipidus after cranioplasty for craniosynostosis in an infant with septo-optic dysplasia. 一名视中隔发育不良的婴儿颅缝闭闭颅骨成形术后的短暂中枢性尿崩症。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2021-11-01 DOI: 10.1297/cpe.2021-0036

Takahiro Fukuyama, Takeshi Sato, Satsuki Nakano, Kentaro Tomita, Yoshiaki Sakamoto, Tomoru Miwa, Junpei Hamada, Natsuko Futagawa, Kosei Hasegawa, Tomohiro Ishii, Tomonobu Hasegawa

引用次数: 0

Higher serum thyroid autoantibody value is a risk factor of hypothyroidism in children and young adults with chronic thyroiditis. 血清甲状腺自身抗体升高是儿童和青年慢性甲状腺炎患者甲状腺功能减退的危险因素。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-05-29 DOI: 10.1297/cpe.2022-0002

Kazuhiro Shimura, Kanako Yoshizaki, Yukihiro Hasegawa

{"title":"Higher serum thyroid autoantibody value is a risk factor of hypothyroidism in children and young adults with chronic thyroiditis.","authors":"Kazuhiro Shimura, Kanako Yoshizaki, Yukihiro Hasegawa","doi":"10.1297/cpe.2022-0002","DOIUrl":"https://doi.org/10.1297/cpe.2022-0002","url":null,"abstract":"Thyroid function in patients with chronic thyroiditis (CT) varies depending on the clinical course. Serum antithyroglobulin antibody (TgAb) and antithyroid peroxidase antibody (TPOAb) levels may be used to predict hypothyroidism in CT. In this retrospective cohort study, patients with CT, defined as having a high TgAb or TPOAb value, were divided into a hypothyroid group (HG) and euthyroid group (EG), after a mean follow-up of 2.5 years. The definitions of the two groups was based on the maximum TSH value from the initial measurement to the most recent follow-up: HG was defined as TSH 10.0 μIU/mL or higher, and EG was defined as TSH < 10.0 μIU/mL. There were 20 and 113 patients in the HG and EG, respectively. There were no significant differences in age, sex, underlying diseases, or TgAb and TPOAb levels between the groups. Receiver operating characteristic curve analyses of TgAb and TPOAb values for predicting thyroid function showed areas under the curve of 0.714 and 0.757, respectively. The value with the highest diagnostic accuracy was 106 IU/mL for TgAb and 16 IU/mL for TPOAb. Thus, TgAb > 106 IU/mL and TPOAb > 16 IU/mL may predict hypothyroidism in children and young adults with CT.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 3","pages":"152-158"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d6/e8/cpe-31-152.PMC9297167.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40583171","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

Histological analysis of testes in patients with 5 alpha-reductase deficiency type 2: Comparison with cryptorchid testes in patients without endocrinological abnormalities and a review of the literature. 2型5 α还原酶缺乏症患者睾丸组织学分析:与无内分泌异常患者隐睾睾丸的比较及文献复习

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-06-03 DOI: 10.1297/cpe.2022-0025

Tamaki Wada, Chihiro Ichikawa, Makoto Takeuchi, Futoshi Matsui, Fumi Matsumoto, Shinobu Ida, Yuri Etani, Masanobu Kawai

{"title":"Histological analysis of testes in patients with 5 alpha-reductase deficiency type 2: Comparison with cryptorchid testes in patients without endocrinological abnormalities and a review of the literature.","authors":"Tamaki Wada, Chihiro Ichikawa, Makoto Takeuchi, Futoshi Matsui, Fumi Matsumoto, Shinobu Ida, Yuri Etani, Masanobu Kawai","doi":"10.1297/cpe.2022-0025","DOIUrl":"https://doi.org/10.1297/cpe.2022-0025","url":null,"abstract":"As evidenced by the intact histology of the testes during infancy, testicular differentiation during the prenatal period occurs normally in individuals with 5 alpha-reductase type 2 deficiency (5αRD); however, a majority of these individuals suffer from azoospermia or oligospermia during adulthood, indicating that impaired spermatogenesis occurs postnatally. Although the accompanying cryptorchidism may be partly responsible for this process, the underlying mechanisms remain largely unknown. To address this issue, we retrospectively compared the histological findings of descended testes in a 3-mo-old patient and undescended testes in an 18-yr-old patient with 5αRD. In the latter, testicular histology was compared to that of cryptorchid testes obtained from five adolescent patients without endocrinological abnormalities. Histological findings of a 3-mo-old patient revealed normal number of germ cells with intact seminiferous tubules. In contrast, an 18-yr-old patient showed marked reduction in germ cell number and atrophic seminiferous tubules. The findings were very similar to those observed in cryptorchid testes without endocrinological abnormalities. These findings suggest that the decrease in germ cells in 5αRD patients may be at least partly caused by accompanying cryptorchidism. As the number of germ cells did not decrease during the infantile period, early orchiopexy is recommended to prevent a decrease in germ cell number and preserve fertility.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 3","pages":"144-151"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/08/79/cpe-31-144.PMC9297171.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40583172","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 guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision). 21-羟化酶缺乏症临床诊断和治疗指南(2021年修订)。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-04-10 DOI: 10.1297/cpe.2022-0009

Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, Kei Takasawa, Akari Nakamura-Utsunomiya, Shuichi Yatsuga, Tokuo Mukai, Shinobu Ida, Mitsuhisa Isobe, Masaru Fukushi, Hiroyuki Satoh, Kaoru Yoshino, Michio Otsuki, Takuyuki Katabami, Toshihiro Tajima

{"title":"Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).","authors":"Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, Kei Takasawa, Akari Nakamura-Utsunomiya, Shuichi Yatsuga, Tokuo Mukai, Shinobu Ida, Mitsuhisa Isobe, Masaru Fukushi, Hiroyuki Satoh, Kaoru Yoshino, Michio Otsuki, Takuyuki Katabami, Toshihiro Tajima","doi":"10.1297/cpe.2022-0009","DOIUrl":"https://doi.org/10.1297/cpe.2022-0009","url":null,"abstract":"Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic variants of CAY21A2 and is prevalent between 1 in 18,000 and 20,000 in Japan. The clinical guidelines for 21-hydroxylase deficiency in Japan have been revised twice since a diagnostic handbook in Japan was published in 1989. On behalf of the Japanese Society for Pediatric Endocrinology, the Japanese Society for Mass Screening, the Japanese Society for Urology, and the Japan Endocrine Society, the working committee updated the guidelines for the diagnosis and treatment of 21-hydroxylase deficiency published in 2014, based on recent evidence and knowledge related to this disorder. The recommendations in the updated guidelines can be applied in clinical practice considering the risks and benefits to each patient.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 3","pages":"116-143"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cb/97/cpe-31-116.PMC9297175.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40583173","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: 7

11-Oxyandrogens from the viewpoint of pediatric endocrinology. 从儿科内分泌学的角度看氧雄激素。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-06-11 DOI: 10.1297/cpe.2022-0029

Maki Fukami

引用次数: 1