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Annals of Pediatric Endocrinology & Metabolism

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https://www.readbyqxmd.com/read/30286575/a-case-of-wolfram-syndrome-with-chronic-renal-failure
#1
Hüseyin Anıl Korkmaz
No abstract text is available yet for this article.
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286574/testicular-microlithiasis-in-a-boy-with-x-linked-adrenal-hypoplasia-congenita
#2
Anastasios Serbis, Vassiliki Regina Tsinopoulou, Konstantina Mouzaki, Eleni P Kotanidou, Styliani Giza, Assimina Galli-Tsinopoulou
X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is located on the short arm of chromosome X (Xp21). The NR0B1 gene plays an important role in normal development and function of both the adrenal and gonadal axes and some patients with the disease can present in adolescence with hypogonadotropic hypogonadism. Testicular microlithiasis is an ultrasonographic finding of unknown etiology that has been associated with several benign conditions such as cryptorchidism, congenital adrenal hyperplasia, varicoceles, and testicular malignancy...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286573/compound-heterozygosity-for-a-whole-gene-deletion-and-p-r124c-mutation-in-cyp21a2-causing-nonclassic-congenital-adrenal-hyperplasia
#3
Hamza Nasir, Syed Ibaad Ali, Naeem Haque, Stefan K Grebe, Salman Kirmani
We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not necessarily requiring treatment. A 17-year-old male presented to our clinic on glucocorticoid and mineralocorticoid treatment for classic CAH. He was diagnosed at 4 years of age based on mild-moderate elevations of 17-hydroxyprogesterone (17-OHP) and adrenocorticotropic hormone (ACTH), but without evidence of precocious adrenarche/puberty...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286572/successful-switching-from-insulin-to-sulfonylurea-in-a-3-month-old-infant-with-diabetes-due-to-p-g53d-mutation-in-kcnj11
#4
Jong Seo Yoon, Kyu Jung Park, Young Bae Sohn, Hae Sang Lee, Jin Soon Hwang
Permanent neonatal diabetes mellitus is most commonly caused by mutations in the ATP-sensitive potassium channel (KATP) subunits. Prompt initiation of sulfonylurea treatment can improve glycemic control in children with KCNJ11 mutation. In this report, we present a case of permanent neonatal diabetes caused by a mutation in the KCNJ11 gene that was successfully treated via early switching of insulin to sulfonylurea treatment. A 53-day-old female infant presented with diabetic ketoacidosis. Insulin was administered for the ketoacidosis and blood glucose regulation...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286571/factors-affecting-height-velocity-in-normal-prepubertal-children
#5
Jun Hui Lee, Seul Ki Kim, Eun Kyoung Lee, Moon Bae Ahn, Shin Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, Min Ho Jung, Byung Kyu Suh
PURPOSE: To analyze the effects of clinical and laboratory factors, including insulinlike growth factor (IGF) levels, on the height velocity of normal prepubertal children. METHODS: Ninety-five healthy prepubertal children (33 boys, 62 girls) were enrolled. The mean chronological age was 6.3±1.4 years, with a height standard deviation score (SDS) of -0.88±0.70. IGF-1, IGF binding protein-3 (IGFBP-3), SDS for anthropometric measurements, and changes in SDS for anthropometric measurements were analyzed for 1 year, and their associations with 1-year height velocity were investigated...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286570/thyroid-function-in-obese-korean-children-and-adolescents-korea-national-health-and-nutrition-examination-survey-2013-2015
#6
Young Min An, Soon Jeong Moon, Soon Ki Kim, Young Ju Suh, Ji Eun Lee
PURPOSE: In recent years, there has been an increasing focus on thyroid function in pediatric obese patients, but no nationwide study evaluating the relationship between thyroid function and obesity has yet been conducted in Korea. We aimed to evaluate thyroid dysfunction in obese Korean children. METHODS: We analyzed the associations between obesity and thyroid hormone levels among 975 Korean boys and girls aged 10-18 years and who participated in the Korean National Health and Nutrition Examination Survey VI (2013-2015)...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286569/evaluation-of-bone-mineral-status-in-prepuberal-children-with-newly-diagnosed-type-1-diabetes
#7
Jung Gi Roh, Jong Seo Yoon, Kyu Jung Park, Jung Sub Lim, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Many studies have reported that patients with type 1 diabetes have reduced bone mineral density (BMD). We assessed bone status in prepubertal children with type 1 diabetes mellitus (type 1 DM) at initial diagnosis and investigated factors associated with BMD. METHODS: Prepubertal children (n=29) with newly diagnosed type 1 diabetes from 2006 to 2014 were included. Dual-energy X-ray absorptiometry measured regional and whole-body composition at initial diagnosis...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286568/therapeutic-potential-of-alpha-1-antitrypsin-in-human-disease
#8
Minsun Kim, Qing Cai, Youngman Oh
Alpha-1 antitrypsin (AAT), an alpha globulin glycoprotein, is a member of the serine protease inhibitor (serpin) superfamily. The clinical significance of AAT is highlighted by AAT deficiency. Genetic deficiency of AAT can present as several neutrophilic diseases associated with emphysema, liver cirrhosis, panniculitis, and systemic vasculitis. Recently, animal and human studies have shown that AAT can control inflammatory, immunological, and tissue-protective responses. In addition, AAT treatment can prevent overt hyperglycemia, increase insulin secretion, and reduce cytokine-mediated apoptosis of pancreatic β-cells in diabetes...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286567/childhood-diabetes-in-india
#9
Sanjay Kalra, Mudita Dhingra
This review describes the epidemiology of childhood diabetes in India. It focuses on the incidence and prevalence of type 1 diabetes and its complications and comorbid conditions. The review also covers data related to type 2 diabetes, glucose intolerance, and monogenic diabetes from India. A brief discussion regarding unique contributions from India to the world literature is included. The topics discussed include use of camel milk as adjuvant therapy in type 1 diabetes, relevance of the A1/A2 hypothesis, and comprehensive clinico-etiopathological classification of type 1 diabetes...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286566/type-2-diabetes-mellitus-in-children-and-adolescent-an-indonesian-perspective
#10
Aman Bhakti Pulungan, Ireska Tsaniya Afifa, Diadra Annisa
The prevalence of type 2 diabetes mellitus (T2DM) in children and adolescents has increased globally over the past 2 decades. Metabolic syndrome, including obesity and overweight at a young age, increases the occurrence of T2DM. Studies in Indonesia have found that obese children and adolescents are more likely to have insulin resistance, a risk factor for T2DM. There are no data on the current incidence of T2DM in youth in Indonesia, but there has been a significant rise in the prevalence of overweight in adolescents...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30286565/clinical-characteristics-in-japanese-children-with-nonobese-type-2-diabetes
#11
Tatsuhiko Urakami
It is well known that the incidence of youth-onset type 2 diabetes is increasing worldwide. On the other hand, most studies have shown that the majority of youth-onset type 2 diabetes occurs in obese individuals, generally with a body mass index (BMI) greater than the 90th or 95th centile for sex- and age-matched children and adolescents. However, we identified some Japanese children with nonobese type 2 diabetes and BMI less than 90th centile by a urine glucose screening program at schools in the Tokyo Metropolitan Area...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29969884/de-novo-a-novel-variant-of-casr-gene-in-a-neonate-with-congenital-hypoparathyroidism
#12
Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko
Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detected via changes in serum calcium level. The activating mutation of the CaSR gene results in familial or sporadic ADHH. Most activating mutations of the CaSR gene are reportedly de novo missense mutations. This is the first case report of a novel activating variant of the CaSR gene in a neonate with congenital hypoparathyroidism with hypomagnesemia and hypercalciuria...
June 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29969883/respiratory-failure-in-a-diabetic-ketoacidosis-patient-with-severe-hypophosphatemia
#13
Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Junghwan Suh, Duk Hee Kim, Ho-Seong Kim
Phosphate is essential in regulating human metabolic processes, and severe hypophosphatemia can induce neurologic and hematological complications and result in respiratory failure and cardiac dysfunction. Therefore, correction of severe hypophosphatemia can be pivotal in the management of diabetic ketoacidosis (DKA). We report the case of a 14-year-old female who was diagnosed with type 1 diabetes and referred to our institute for treatment of DKA. Although the patient received fluid and continuous insulin administration according to the current DKA treatment protocol, generalized tonic seizures and cardiac arrest developed...
June 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29969882/association-kikuchi-disease-with-hashimoto-thyroiditis-a-case-report-and-literature-review
#14
Eun Joo Lee, Hae Sang Lee, Jun Eun Park, Jin Soon Hwang
Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disease characterized by fever and lymphadenopathy. The etiology of KFD is unknown, but an autoimmune cause has been suggested. Hashimoto thyroiditis is the most common autoimmune thyroid disorder in children and is known to be associated with other autoimmune diseases. Only a few cases of Hashimoto thyroiditis associated with KFD have been documented. We report a case of a 16-year-old girl who was first diagnosed with KFD and developed Hashimoto thyroiditis 2 years and 6 months later during her follow-up period...
June 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29969881/cancer-in-thyroid-nodules-with-fine-needle-aspiration-in-korean-pediatric-populations
#15
Joon Ho Jang, So Hyun Park, Kyung Soon Cho, Won Kyung Cho, Young Jin Suh, Byung Kyu Suh, Dae Kyun Koh
PURPOSE: To determine the prevalence and clinical findings of benign thyroid nodules and cancer in Korean pediatric patients with thyroid nodules. METHODS: We investigated the medical records of 134 patients aged younger than 18 years who had a goiter, thyroid nodule, thyroid mass, or thyroid cancer who underwent fine needle aspiration biopsy (FNAB). RESULTS: The study population included 113 females (84.3%) and 21 males (13.7%); the mean patient age was 16...
June 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29969880/thyroid-dysfunction-in-patients-with-childhood-onset-medulloblastoma-or-primitive-neuroectodermal-tumor
#16
Seung Young Jin, Jung Yoon Choi, Kyung Duk Park, Hyoung Jin Kang, Hee Young Shin, Ji Hoon Phi, Seung-Ki Kim, Kyu-Chang Wang, Il Han Kim, Young Ah Lee, Choong Ho Shin, Sei Won Yang
PURPOSE: We investigated the clinical characteristics of patients who developed thyroid dysfunction and evaluated the risk factors for hypothyroidism following radiotherapy and chemotherapy in pediatric patients with medulloblastoma or primitive neuroectodermal tumor (PNET). METHODS: The medical records of 66 patients (42 males) treated for medulloblastoma (n=56) or PNET (n=10) in childhood between January 2000 and December 2014 at Seoul National University Children's Hospital were retrospectively reviewed...
June 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29969879/visceral-fat-thickness-and-its-associations-with-pubertal-and-metabolic-parameters-among-girls-with-precocious-puberty
#17
Dong Wook Kim, Junghwan Suh, Ah Reum Kwon, Hyun Wook Chae, Choon Sik Yoon, Ho-Seong Kim, Duk Hee Kim
PURPOSE: This study aimed to investigate associations of central obesity with sexual maturation and metabolic parameters in Korean girls with precocious puberty. METHODS: This retrospective study evaluated data from 72 girls under 8 years of age with a chief complaint of early breast development. The patients were categorized as central precocious puberty (CPP) subjects or non-CPP subjects based on their gonadotropin-releasing hormone stimulation test results. Visceral fat thickness (VFT) was measured using ultrasonography and defined as the distance from the linea alba to the aorta...
June 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29969878/etiological-trends-in-male-central-precocious-puberty
#18
Jisun Lee, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
PURPOSE: In the present study, the etiological trends in male central precocious puberty (CPP) were examined, and annual distribution was evaluated. METHODS: Seventy-one male CPP subjects who started puberty before 9 years of age were included in this study. All individuals were diagnosed as having CPP at Samsung Medical Center between 2001 and 2016. Chronological age at puberty onset, diagnosis of CPP, bone age, weight (kg), height (cm), puberty stage, brain magnetic resonance imaging findings, testosterone level, basal gonadotropin level, and gonadotropin level after gonadotropin releasing hormone stimulation were analyzed...
June 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29969877/fertility-preservation-in-pediatric-and-young-adult-female-cancer-patients
#19
Hashin Kim, Hoon Kim, Seung-Yup Ku
As the 5-year survival rate increases up to 80% in pediatric cancer patients, the number of women patients with reduced gonadal function by chemotherapy and radiotherapy increases. The gonadal toxicity of pediatric patients varies highly according to the chemotherapeutic agent and the type of radiotherapy. Although American Society of Clinical Oncology published the guideline for fertility preservation, additional scientific and ethical concerns should be considered for clinical practice. In addition, only the experimental method can be applied for the prepubertal patients in contrast to the postpubertal patients...
June 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29969876/fat-and-bone-in-children-where-are-we-now
#20
Paul Dimitri
The risk of fracture secondary to low-impact trauma is greater in obese children, suggesting obese children are at risk of skeletal fragility. However, despite this finding, there is a lack of agreement about the impact of excessive adiposity on skeletal development. The combination of poor diet, sedentary lifestyle, greater force generated on impact through falls, and greater propensity to falls may in part explain the increased risk of fracture in obese children. To date, evidence suggests that in early childhood years, obesity confers a structural advantage to the developing skeleton...
June 2018: Annals of Pediatric Endocrinology & Metabolism
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