Clinical Pediatric Endocrinology
Online ISSN : 1347-7358
Print ISSN : 0918-5739
ISSN-L : 0918-5739
Volume 28, Issue 4
Displaying 1-8 of 8 articles from this issue
Review (KSPE-JSPE Plenary Lecture)
  • Il Tae Hwang
    2019 Volume 28 Issue 4 Pages 97-103
    Published: 2019
    Released on J-STAGE: October 19, 2019
    JOURNAL OPEN ACCESS

    Children born small for gestational age (SGA) face an increased risk of health problems in later life, particularly persistent short stature, neurocognitive dysfunction, impaired renal and pulmonary function, decreased bone density, sensorineural hearing loss, premature adrenarche, and metabolic syndrome. Insulin resistance appears to be a key component underlying these metabolic complications. Long-term, continuous, GH treatments in short children born SGA lead to a normalization of height through childhood to adulthood. Recombinant human GH has been proven to be relatively safe. We recommend early surveillance in a growth clinic for children born SGA without catch-up growth. Obesity, insulin resistance, and the risk of metabolic syndrome increase with catch-up growth, but short stature and cognitive dysfunction increase without catch-up growth in children born SGA. A solution to this catch-up dilemma is breast feeding for a minimum of 6 to 12 mo. Because the overall prevalence of metabolic risk factors is very low, routine evaluation of metabolic parameters is not recommended for all children born SGA, but it may be useful to consider metabolic evaluations in overweight or obese children born SGA. Since children born SGA have many risk factors, long-term management from neonate to adulthood is very important.

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Original Article
  • Akito Sutani, Yuichi Miyakawa, Atsumi Tsuji-Hosokawa, Risa Nomura, Ryu ...
    2019 Volume 28 Issue 4 Pages 105-112
    Published: 2019
    Released on J-STAGE: October 19, 2019
    JOURNAL OPEN ACCESS

    In addition to malignant diseases, hematopoietic stem cell transplantation (HSCT) is also a vital option as a curative therapy for non-malignant diseases, such as immunodeficiency, and other hematological disorders. Not only for malignant diseases, but for non-malignant diseases, cytotoxic therapy of conditioning regimens are associated with high risks of adverse effects; however, clinical details regarding the long term outcomes of cytotoxic therapy for non-malignant diseases are not documented yet. To clarify the endocrinological consequences of pediatric HSCT for non-malignant disease patients, we conducted a retrospective analysis. From 1983 to 2014, 75 patients that underwent HSCT for non-malignant diseases were selected for this study. Of these, 23 patients (19 men, 4 women) were continuously followed up in our institute, with regular health check-ups for late effects. Based on a multiple linear regression analysis, the glucocorticoid treatment duration for chronic graft-versus-host disease (cGVHD) and the conditioning regimen were found to be independent predictors of growth retardation. All four female patients developed hypogonadism, and required hormone replacement therapy. The conditioning regimen for the four female patients with hypogonadism was based on the use of alkylating agents, and two female patients were treated with a reduced-intensity conditioning (RIC) regimen. Our study revealed that even the RIC regimen was toxic for the gonads in female patients, and that the survivors of both non-malignant and malignant diseases should be followed up carefully after pediatric HSCT.

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  • Toshika Otani, Hiroki Yokoyama, Ko Hanai, Junnosuke Miura, Yasuko Uchi ...
    2019 Volume 28 Issue 4 Pages 113-125
    Published: 2019
    Released on J-STAGE: October 19, 2019
    JOURNAL OPEN ACCESS

    The incidence of end-stage renal disease (ESRD) in Japanese patients with type 1 diabetes mellitus (T1DM) was investigated regarding the association between mean HbA1c values during follow-up and the duration of follow-up/illness. The study includes 988 patients diagnosed at ages younger than 30 yr. These patients were initially examined between 1962 and 1999, and HbA1 and/or HbA1c measurements were taken for at least 3 yr after 1980. The follow-up period was from the date of the first HbA1 or HbA1c measurement to the final measurement day, or HbA1c measurement day immediately before the development of ESRD. The condition progressed to ESRD in 63 patients (mean duration of illness: 23.6 yr). Cox regression analysis revealed that patients with HbA1c of ≥ 10% had a significantly increased higher risk than those with HbA1c under 8% (P < 0.0001). The HbA1c cut-off point was 10.0%. The HbA1c value was ≥ 10% at baseline and during follow-up in 128 patients. Assuming that HbA1c of ≥ 10% persisted since the time of diagnosis in these patients, the cumulative incidence of ESRD abruptly increased after 15 yr of illness. Thus, the incidence of ESRD increased after the persistence of HbA1c of ≥ 10% for 15 yr.

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  • Shinji Higuchi, Yukihiro Hasegawa
    2019 Volume 28 Issue 4 Pages 127-133
    Published: 2019
    Released on J-STAGE: October 19, 2019
    JOURNAL OPEN ACCESS

    Significant differences in levothyroxine (LT4) dosages for congenital hypothyroidism (CH), which can be permanent (P-CH) or transient (T-CH), and their respective cutoff values have been reported. In Japanese children, however, these values are unknown, and were thus determined in this retrospective single-center study, which included 34 patients— 19 with P-CH and 15 with T-CH. The LT4 dosages of the two groups at ages 1 and 3 yr were compared, and receiver operating characteristic (ROC) analysis was performed to identify the cutoff dosages. The results showed that the LT4 dosages of the P-CH and T-CH groups differed significantly at both ages. When LT4 dosage cutoff at 1 yr of age was set at 2.4 μg/kg/d, the sensitivity and specificity were 93% and 74%, respectively, and when it was set at 1.3 μg/kg/d at 3 yr of age, they were 80% and 84%, respectively, suggesting that when LT4 dosages are ≤2.4 μg/kg/d at 1 yr and ≤1.3 μg/kg/d at 3 yr of age, T-CH should be suspected.

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Case Report
  • Tsuyoshi Nishibukuro, Junko Igaki-Miyamoto, Yukihiro Hasegawa
    2019 Volume 28 Issue 4 Pages 135-138
    Published: 2019
    Released on J-STAGE: October 19, 2019
    JOURNAL OPEN ACCESS

    Disorders of sex development (DSD) are a group of congenital conditions presenting with differences in the chromosomal, gonadal, or anatomic sex development. Evaluating the chromosomes, gonads, and internal and external genitalia of the patients is important for understanding DSD. Furthermore, confirming the presence of a uterus is essential for the assessment of the internal genitalia status. Although the uterus can be identified by ultrasonography, magnetic resonance imaging, or laparoscopy, it may be easily overlooked. Here, we report the case of a patient with mixed gonadal dysgenesis, in whom the presence of a uterus could not be confirmed before the initiation of estrogen replacement therapy despite the performance of various tests. The detection of the uterus was prompted by an atypical genital bleeding. This case implies that physicians may have difficulties identifying the uterus in female patients with DSD before the initiation of estrogen treatment.

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  • Miwako Maeda, Tomoki Maeda, Ken Ebihara, Kenji Ihara
    2019 Volume 28 Issue 4 Pages 139-145
    Published: 2019
    Released on J-STAGE: October 19, 2019
    JOURNAL OPEN ACCESS

    Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by loss of subcutaneous and visceral adipose tissues, and associated with dysregulation of glycolipid metabolism. In the present study, we reported the clinical manifestations and treatments of Japanese siblings with CGL caused by BSCL2 gene mutations with a clinical course of approximately 20 yr. Comprehensive management with metreleptin therapy, dietary control with additional medication, and psychosocial counseling in line with the patients’ stages of growth and development were important in achieving long-term metabolic control of this condition.

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  • Kanako Yoshizaki, Rumi Hachiya, Yutaro Tomobe, Uiko Kaku, Kazuhisa Aki ...
    2019 Volume 28 Issue 4 Pages 147-153
    Published: 2019
    Released on J-STAGE: October 19, 2019
    JOURNAL OPEN ACCESS

    Aspiration pneumonia is a common complication of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome. However, the detailed clinical course of aspiration pneumonia in neonates and infants diagnosed with this disorder remains unclear. We report a case of a 2-yr-old girl diagnosed with MIRAGE syndrome during the early neonatal period. The patient developed 3 episodes of aspiration pneumonia until 4 mo of age, and this complication was attributed to esophageal hypoperistalsis secondary to achalasia and gastroesophageal reflux. Enteral feeding via a duodenal tube effectively prevented further episodes of aspiration pneumonia in this patient.

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