Optimal glycemic control remains challenging and elusive for many people with diabetes. With the comprehensive clinical evidence on safety and efficiency in large populations, and with broader reimbursement, the adoption of continuous glucose monitoring (CGM) is rapidly increasing. Standardized visual reporting and interpretation of CGM data and clear and understandable clinical targets will help professionals and individuals with diabetes use diabetes technology more efficiently, and finally improve long-term outcomes with less everyday disease burden. For the majority of people with type 1 or type 2 diabetes, time in range (between 70 and 180 mg/dL, or 3.9 and 10 mmol/L) target of more than 70% is recommended, with each incremental increase of 5% towards this target being clinically meaningful. At the same time, the goal is to minimize glycemic excursions: a recommended target for a time below range (< 70 mg/dL or < 3.9 mmol/L) is less than 4%, and time above range (> 180 mg/dL or 10 mmol/L) less than 25%, with less stringent goals for older individuals or those at increased risk. These targets should be individualized: the personal use of CGM with the standardized data presentation provides all necessary means to accurately tailor diabetes management to the needs of each individual with diabetes.

The prevalence of type 1 diabetes mellitus (T1DM) in children in Indonesia is increasing although the real number is unknown due to high rate of misdiagnosis. Public and healthcare awareness on T1DM in children is still low, reflected by the high number of children diagnosed with diabetic ketoacidosis (DKA). The Indonesian Pediatric Society (IPS) had published a guideline on T1DM management, which consists of insulin injection, daily monitoring of blood glucose, nutrition, physical activity, and education. Aside from low awareness, current challenges on T1DM management in Indonesia are funding by the national health insurance, fasting during Ramadan, and inequities on DM care. The involvement of society, healthcare workers, stakeholders, and the government is of importance to ensure optimal management for children with diabetes.

Selenium, one of the essential trace minerals, is present in vivo in form of selenoproteins. Iodothyronine deiodinase, a selenoprotein, is involved in the activation and inactivation of thyroid hormone. Therefore, patients with selenium deficiency may present changes in thyroid hormone levels due to inhibition of T4 to T3 conversion; however, this assumption is still under debate. In the present study, we retrospectively investigated the thyroid function in 22 patients with selenium deficiency. Thyroid stimulating hormone (TSH) and free T4 (FT4) levels were increased in 3 (14%) and 5 (23%) patients, respectively, and free T3 (FT3) levels were decreased in 6 (27%) patients. The FT4/FT3 ratio was significantly higher in patients with selenium deficiency than that in the control group. There appeared to be a positive correlation between the decreased rate of selenium levels and FT4/FT3 ratio, thereby indicating that patients with severe selenium deficiency also exhibited abnormal thyroid hormone levels. Furthermore, when selenium was supplemented in seven patients with abnormal thyroid hormone levels, the TSH, FT4, and FT4/FT3 ratio were significantly decreased and FT3 levels were increased. Collectively, patients with selenium deficiency could present the characteristics of not only low FT3 but also high FT4 and FT4/FT3 ratio.

We investigated serum C-peptide immunoreactivity (CPR) levels in registered data from a multi-center collaborative nationwide type 1 diabetes study. The CPR levels were obtained from 576 and 409 children during the early registration (2013/2014) and late observation (2016/2017) periods, respectively. The percentages of children with a CPR < 0.1 or < 0.3 ng/mL increased according to the duration since diagnosis. Among patients with 5 or more years since diagnosis, 69% had a CPR < 0.1 and 95% had a CPR < 0.3 in the early registration period. A significant negative correlation was observed between the HbA1c and the CPR levels, and the HbA1c levels were significantly higher among children with a CPR < 0.1 or < 0.3 than among those with a CPR ≥ 0.6 ng/mL. During the late observation period, the prevalence of a CPR < 0.1 ng/mL was 88% among long-standing patients and 77% among patients aged 18–20 yr. Regarding the characteristics of “Responders” with a sustained CPR ≥ 0.6 ng/mL at 5 or more years since diagnosis, six of the seven were adolescent females; five of the seven had an HLA DR4-DQ4 haplotype. When type 1A diabetes mellitus (T1AD) children transit to adult care centers, most of them may have some difficulty in glycemic control because of the depleted endogenous insulin.

Daily treatment with subcutaneous injections of recombinant human GH can be physically and emotionally stressful for children and their caregivers owing to the pain caused by injection. In this study, 52 healthy male subjects were randomized to investigate the bioequivalence and compare the safety and injection-associated pain between the prior GROWJECT^® sc formulation and the new formulation, which contains less phosphate buffer. Single subcutaneous doses of each formulation were administered in a crossover manner. Adverse events were monitored throughout the study and subjects rated injection site pain on a 5-point scale. The 90% confidence intervals of the geometric least square means ratio for the area under the human GH concentration-time curve from 0 to 24 h and maximum concentration were 1.002–1.049 and 0.971–1.075 following 6 mg and 0.992–1.038 and 0.973–1.058 following 12 mg, respectively. No severe adverse events were observed. The mean pain score was significantly higher (i.e., less painful) with the new formulation than with the prior formulation regardless of the order of treatment. The new GROWJECT^® sc formulation was bioequivalent to the prior formulation and associated with less injection site pain.

The present study aimed to evaluate choroidal changes and alternations within the structure of the retina prior to visible morphologic signs of diabetic retinopathy (DR) in pediatric type 1 diabetes (T1D) cases. Two hundred and six eyes of 103 pediatric patients with T1D without DR and 88 eyes of 44 healthy controls were enrolled. They underwent a comprehensive ophthalmic examination and optical coherence tomography evaluation. Choroidal thickness (ChT) measurements were performed manually on macular and peripapillary regions. There was no significant difference between the two groups in terms of age, intraocular pressure, and axial length (p > 0.05). ChT measurements of subfoveal, nasal, and temporal macula were slightly thinner in the diabetic group, and no statistical significance was found (p = 0.835, p = 0.305, and p = 0.054, respectively). Peripapillary ChT of eight sectors were also thinner in T1D; however, superonasal, nasal, inferonasal, and inferior sector values were significantly different (p = 0.010, p = 0.020, p = 0.019, and p = 0.018, respectively). In conclusion; this study demonstrated evidence of peripapillary choroidal thinning in pediatric diabetic patients without visible signs of retinopathy.

We described a three-year-old girl whose Chiari type 1 malformation associated with mosaic Turner syndrome disappeared after GH therapy. She was diagnosed with mosaic Turner syndrome at the age of 1 yr and 7 mo by a chromosomal analysis (G-band) for short stature and was treated with GH. Sagittal T1-weighted magnetic resonance imaging (MRI) performed before the start of GH demonstrated herniation of the cerebellar tonsils 7 mm below the foramen magnum into the cervical spinal cord. After the initiation of GH therapy, the growth in height was favorable and improved from 70.6 cm (–3.5 SD) to 92 cm (–1.5 SD) in 2 yr. An MRI examination 19 mo later showed the disappearance of Chiari type 1 malformation. GH therapy either exacerbates or ameliorates Chiari type 1 malformations associated with GH deficiency (GHD). Since Turner syndrome uses more GH than GHD, careful follow-up is required if the disease is associated with Chiari type 1 malformation.

Hypophosphatasia (HPP) is a rare skeletal dysplasia characterized by impaired bone mineralization, caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Enzyme replacement therapy (ERT) by administration of asfotase alfa was reported to improve the survival rate, bone mineralization, and short stature in the severe form of HPP. However, the effect of asfotase alfa in improving the skeletal phenotypes for the mild form of HPP has not been elucidated. We report a case with perinatal benign HPP who had compound heterozygous mutations of p.F327L and p.R30X in the TNSALP gene. No hypomineralization was seen in the radiographs from the neonatal period, but bowing of the femurs and ulnares bilaterally was persistent. ERT was administered during the age of 7.8 to 10.8 yr, although there was an interruption in the treatment for one year. The bowed femurs and ulnares were not improved by the treatment with asfotase alfa at the age of 10.8 yr. Bone mineral density of the lumbar spine was between –0.5 and –1.0 of the z-score, and the patient’s height was about –2.0 SD during the treatment. Asfotase alfa might have a limited effect in improving the bowed limbs in perinatal benign hypophosphatasia.

Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia worldwide, with an incidence of 1 in 15,000 live births. The most frequently-occurring subtype, 21-hydroxylase deficiency, results in diminished production of aldosterone and cortisol as well as increased androgen secretion. Previous studies have reported a relationship between ovarian cyst formation and adrenal androgen excess; nevertheless, neonatal large ovarian cysts have rarely been reported in newborns with congenital adrenal hyperplasia. Herein, we present the unique case of a neonate with classical 21-hydroxylase deficiency who underwent surgery for a huge unilateral solitary ovarian follicular cyst on the seventh postnatal day. Possible mechanisms by which androgen excess may cause ovarian cyst formation are also discussed.

Many monogenetic disorders of short stature have autosomal recessive/dominant form of inheritance. However, X-linked short stature has not been well recognized. Herein, we report a case of a boy from a family with familial severe short stature and mental retardation, who displayed an X-linked recessive trait. The boy at the age of 4 yr and 6 mo presented with remarkable growth failure (height: 76.5 cm [–6.3 SD]) and mental retardation (IQ: 30) and cerebellar volume loss and without an external anomaly or microcephaly to our hospital. A careful interview to determine the family history suggested a genetic background of familial mental retardation and short stature. His mother had mild intellectual disability with normal stature and his maternal uncle had severe mental retardation with remarkably short stature. Whole-exome sequencing identified a pathogenic variant in the KDM5C gene, NM_004187: exon 23: c.3874_3875del: (p.Ala1292Glnfs*7). He presented with a novel frameshift mutation. His mother was a heterozygous carrier of the variant. This case suggests that a disorder associated with the KDM5C gene should be considered when patients present with remarkably short stature and X-linked mental retardation.

Childhood-onset lymphocytic infundibuloneurohypophysitis (LINH) due to infiltration of autoimmune lymphocyte in the neurohypophysis is rarely reported. Its definitive diagnosis requires a pituitary biopsy, which is an invasive procedure. Recently, anti-rabphilin-3A antibody has been reported as a potential diagnostic marker for LINH in adults; however, only a few cases have been reported in children. Here, we present a case of childhood-onset LINH in a 10-yr-old boy identified as anti-rabphilin-3A antibody positive during chronic phase, 9 yr post-onset of central diabetes insipidus (CDI). T1-weighted magnetic resonance imaging (MRI) revealed pituitary stalk thickening and absence of posterior pituitary bright signal spot, and the hormonal responses of the adenohypophysis to GHRH, TRH, CRH, and LHRH revealed no abnormalities during the first admission. MRI at 5 mo post-onset indicated reduced stalk swelling; however, replacement treatment with intranasal desmopressin was continued to counter unimproved CDI. Additionally, GH replacement therapy was also initiated to counter its deficiency. Pituitary re-enlargement was not observed in the subsequent routine MRI, and no increase was observed in the levels of tumor markers during follow-up, which was considered clinically consistent with LINH. Our case study suggests that anti-rabphilin-3A antibody may be considered as a useful diagnostic marker for LINH in children.

We report the case of a boy with partial skull defects in addition to widespread craniotabes due to vitamin D deficiency rickets. He was born at 30 wk and 4 d of gestation (birth weight, 2406 g). At 77 d of age, clinical examination of the head revealed widespread craniotabes of the occipital region centered around the lambda suture, and palpation revealed a defect of about 1 cm in the parietal bone of the left occipital region. Cranial computed tomography showed thinning of the cortex and bone defects in the parietal bones bilaterally, as well as in the left occipital bone. At 3 mo of age, he was diagnosed with vitamin D deficiency rickets and was administered alfacalcidol for 4 mo. Although patients with vitamin D deficiency rickets are prone to fractures, bone defects, as in this case, have not been reported. In addition to vitamin D deficiency rickets, the causes of the bone defects, in this case, are hypothesized to be abnormalities in the Ras-mitogen activated protein kinase pathway associated with Noonan syndrome, and long-term compression of the back of the head. However, there are no other similar reports, and further ones need to be accumulated.

Among the types of acute thyroiditis, subacute thyroiditis (SAT) is rare in children, and there is limited knowledge regarding its characteristics in pediatric cases. We present a case of SAT in a 6-yr-old boy who was brought to our hospital with high fever and pain in the front portion of the neck. Acute suppurative thyroiditis (AST), which is common in children, was suspected initially. Tenderness observed in the thyroid corresponded to a hypoechoic region on ultrasonography. The tenderness subsequently shifted to the isthmus, which was evident as a hypoechoic region on ultrasonography. Movement of hypoechoicity is typical of creeping thyroiditis, wherein the pain and tenderness can be unilateral or may start on one side and subsequently shift to the contralateral side after days or even weeks. Based on this characteristic and changes in laboratory parameters, the patient was diagnosed as a case of creeping thyroiditis. Improvement was observed in the patient without the use of anti-inflammatory drugs. At the 2-yr follow-up, the patient did not have thyrotoxicosis or relapse. Although AST is more prevalent than SAT in children, ultrasonography findings of creeping thyroiditis may be an important indicator for the diagnosis of SAT in pediatric patients.