Clinical Pediatric Endocrinology
Online ISSN : 1347-7358
Print ISSN : 0918-5739
ISSN-L : 0918-5739
Current issue
Displaying 1-7 of 7 articles from this issue
Review
  • Giulia Sassano, Saverio La Bella, Armando Di Ludovico, Luciana Breda, ...
    2024 Volume 33 Issue 1 Pages 1-11
    Published: 2024
    Released on J-STAGE: January 30, 2024
    Advance online publication: December 02, 2023
    JOURNAL OPEN ACCESS

    Chronic inflammatory conditions, such as juvenile idiopathic arthritis, are associated with growth failure. Growth failure appears to be correlated with both the effects of inflammation and negative effects of glucocorticoids (used as therapeutic option) on the growth hormone axis and locally on the growth plate and bone metabolism. In the last decade, the introduction of biologics has changed the disease course regarding consequences and outcomes. Anyway in some cases, treatment with biologics has failed in restoring normal growth in patients with juvenile idiopathic arthritis; in contrast, several studies have reported improved height velocity and growth rate in patients with juvenile idiopathic arthritis treated with growth hormone. This study aimed to evaluate the impact of growth hormone treatment on the growth and pubertal development in juvenile idiopathic arthritis patients through a narrative review of the literature over the last four decades.

    Download PDF (1229K)
Case Report
  • Akito Hattori, Koji Okuhara, Yasuhiro Shimizu, Tohru Ohta, Shigeru Suz ...
    2024 Volume 33 Issue 1 Pages 12-16
    Published: 2024
    Released on J-STAGE: January 30, 2024
    Advance online publication: October 04, 2023
    JOURNAL OPEN ACCESS

    Although KCNJ11 mutation is the main cause of neonatal diabetes mellitus, reports of maturity-onset diabetes in the young (MODY) related to KCNJ11 are rare. Here, we report a case of KCNJ11-MODY in a 12-yr-old Japanese female. Hyperglycemia was initially detected during a school urine screening program. Subsequent laboratory examinations revealed impaired insulin secretion; however, no islet autoantibodies were detected. Genetic testing of KCNJ11 revealed a novel heterozygous variant, c.153G>C, p.Glu51Asp. The patient’s father had the same mutation and was diagnosed with diabetes at 46 yr of age. KCNJ11-MODY was suspected, and sulfonylurea administration resulted in adequate glycemic control in the patient. The American College of Medical Genetics and Genomics guidelines classify this variant as likely pathogenic, and the effectiveness of sulfonylureas supports its pathogenicity. The patient could be treated with 0.02–0.03 mg/kg/d of glibenclamide, as this mutation may be responsive to only a small amount of sulfonylurea. A detailed family history and sequencing of causative genes, including KCNJ11, may help diagnose diabetes in school-aged patients.

    Download PDF (708K)
  • Yoshiko Yamamura, Maki Fukami, Misayo Matsuyama, Hirotake Sawada
    2024 Volume 33 Issue 1 Pages 17-22
    Published: 2024
    Released on J-STAGE: January 30, 2024
    Advance online publication: November 03, 2023
    JOURNAL OPEN ACCESS

    Following the partial revision of the enforcement regulations of the School Health and Safety Act, school health checkups incorporated growth evaluation of schoolchildren in April 2016 using growth charts. We report cases of congenital central hypothyroidism (C-CH) in siblings with a novel nonsense variant in the immunoglobulin superfamily member 1 gene (IGSF1); their diagnoses were prompted by school health checkups. School checkups revealed that the older brother was overweight and had a reduced growth rate at the age of 11 yr, whereas the younger brother was overweight and had short stature at the age of 8 yr. They were diagnosed with C-CH because of normal thyroid-stimulating hormone (TSH) levels despite a low free thyroxine level and low TSH response in the thyrotropin-releasing hormone stress test. Only the older brother had prolactin deficiency and testicular growth without elevated testosterone levels. The siblings harbored a novel nonsense variant in exon 16 of IGSF1 (NM_001555.5: c.3056G>A: p.Trp1019Ter) and were diagnosed with IGSF1 deficiency. In Japan, C-CH may be overlooked because TSH-based newborn screening alone is usually performed for patients with congenital hypothyroidism. The implementation of growth monitoring using growth charts in school health checkups may prompt new C-CH diagnoses.

    Download PDF (2656K)
  • Heeyung Kim, Yasuhiro Naiki, Megumi Iwahashi-Odano, Satoshi Narumi, Ko ...
    2024 Volume 33 Issue 1 Pages 23-26
    Published: 2024
    Released on J-STAGE: January 30, 2024
    Advance online publication: November 12, 2023
    JOURNAL OPEN ACCESS

    Complete deficiency of thyroxin-binding globulin (TBG-CD) is not commonly associated with clinical symptoms, and little is known about thyroid tumors associated with TBG-CD. We present a case report of an asymptomatic follicular adenoma that spontaneously shrank in a patient with TBG-CD. A previously healthy 13-yr-old male presented with a diffusely swollen thyroid gland. Thyroid function tests revealed low total thyroxin and TBG concentrations, indicating a TBG deficiency. Ultrasonography revealed a mildly swollen thyroid gland with a nodule (14 × 12 × 19 mm) in the left lobe. Genetic analysis of peripheral blood revealed a previously reported SERPINA7 variant, which resulted in complete loss of TBG function. The nodule was identified as a follicular adenoma using fine-needle aspiration. Subsequently, the adenoma shrank without treatment. This pubertal case suggests that careful observation with ultrasonography is warranted for follicular adenoma in patients with TBG deficiency and that treatment may not be required.

    Editor's pick

    Upper) Thyroid ultrasonography revealed a nodule measuring 14 × 12 × 19 mm with clear borders in the left lobe of the thyroid gland accompanied by cystic degeneration and calcification without increased blood flow or surrounding lymphadenopathy.
    (Lower) The nodule shrank to 5 × 5 × 6 mm without any treatment six months after fine-needle aspiration cytology (FNAC).

    Download PDF (1089K)
  • Shintaro Senoo, Masanobu Fujimoto, Yukiko Yamaguchi, Mari Osaki, Keiic ...
    2024 Volume 33 Issue 1 Pages 27-34
    Published: 2024
    Released on J-STAGE: January 30, 2024
    Advance online publication: January 28, 2024
    JOURNAL OPEN ACCESS

    Burosumab, a fully human monoclonal antibody against fibroblast growth factor 23, is mainly administered to patients with severe X-linked hypophosphatemia (XLH). However, there have been few reports on its use in relatively mild cases. In this report, we administered burosumab to two siblings with XLH who had been effectively treated with oral phosphate and active vitamin D. Both patients showed further improvement in radiographic and laboratory findings with burosumab compared with conventional treatment. Upon switching treatment, popliteal pain was reported in case 1 until her phosphorus levels normalized. This emphasizes the importance of monitoring not only rickets and calcium/phosphate metabolism but all symptoms of XLH after initiating burosumab. Notably, in cases 1 and 2, burosumab sustained catch-up growth, especially in case 1, who had not yet reached puberty. Further clinical studies are needed to determine whether burosumab improves growth and proportional abnormalities in patients with mild XLH.

    Download PDF (4451K)
Short Communication
Mutation-in-Brief
feedback
Top