Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology

In Japan, most neonates undergo screening for congenital hypothyroidism (CH). A TRH stimulation test (TRH-T) may be performed after initial treatment as a useful method for reevaluating the patient's thyroid status. However, no studies have compared basal and peak TSH values in TRH-T in patients with long-term follow-up. This was a retrospective and observational study. The inclusion criteria were as follows: (1) CH diagnosis based on positive newborn screening, (2) follow-up > 15 yr, and (3) TRH-T after LT4 discontinuation...

Using the longitudinal growth data of 13,809 individuals in the Akita Prefecture, the percentage distributions of their adult height (AH) standard deviation scores (SDS) in relation to their prepubertal height SDS were obtained. The AH SDS increased with negative prepubertal height SDS and decreased with positive prepubertal height SDS, showing that a greater amount of change was associated with a greater interval of the prepubertal height SDS from the mean. The proportions of individuals who achieved normal AH stratified by prepubertal height SDS were as follows: 67...

The most common hormonal and metabolic disease in early childhood is congenital hypothyroidism (CH). This study aimed to describe CH in large-scale birth cohort data and summarize the results of serum thyroid-stimulating hormone (TSH) and free thyroxine (fT4) levels in 2-yr-old children. Data were obtained from the Japan Environment and Children's Study (JECS), and we identified 171 children with CH detected in newborn screenings or medical records (170.5 per 100,000 population). Infants with CH are at higher risk of developing congenital diseases than those without CH...

The principles of treatment for children and adolescents with type 2 diabetes include dietary and exercise management. For dietary management, a relatively modest dietary regimen with an appropriate energy source composition is recommended. Moderate- to vigorous-intensity aerobic activity is recommended for at least 60 min/d. Family members are encouraged to modify their lifestyles. Some patients fail to improve hyperglycemia through dietary and exercise management and eventually require pharmacological treatment...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Serum cortisol mainly binds to the cortisol-binding globulin (CBG). Children with biliary atresia (BA) may have low serum CBG levels; thus, low serum total cortisol (TC) levels and adrenal insufficiency (AI) may be overdiagnosed. This study aimed to assess adrenal function in children with BA. All the patients underwent adrenocorticotropic hormone (ACTH) stimulation tests. Plasma ACTH, serum TC, and CBG levels were measured at baseline, with additional TC measurements at 30 and 60 min during testing. Free cortisol (FC) index (FCI) and calculated FC (cFC) were also calculated...

Pseudo-Bartter syndrome (PBS) develops owing to renal or extrarenal chloride loss, leading to hypokalemic alkalosis. Whereas most adult cases result from diuretic/laxative abuse, many infantile cases occur secondary to cystic fibrosis. Rarely, infantile PBS is caused by renal salt loss with anomalies of the kidney/urinary tract or genetic disorders, such as Dent disease. Here, we report the case of a 10-mo-old girl with a one-month history of decreased formula intake and 5.6% body weight loss. She showed typical laboratory findings as PBS, including hypokalemia (2...

A decade since the discovery of insulin, the increasing prevalence of type 1 diabetes mellitus (T1DM) has underscored the prevailing inequalities in the provision of essential care for T1DM worldwide. However, the details on the availability of insulin types and associated medical devices remain unclear. A cross-sectional electronic survey was distributed across a global network of pediatric societies under the umbrella of the International Pediatric Association (IPA). Access to and availability of pediatric diabetes care were investigated using standardized questions...

No abstract text is available yet for this article.

Hypophosphatasia (HPP) is caused by inactivating variants of the ALPL gene, which encodes tissue non-specific alkaline phosphatase (TNSALP). Among the six subtypes of HPP, childhood HPP presents after 6 months and before 18 yr of age, and is inherited in both autosomal dominant and autosomal recessive manners. Patients with childhood HPP have variable symptoms, including rickets-like bone changes, low bone mineral density (BMD), short stature, muscle weakness, craniosynostosis, and premature loss of deciduous teeth...

No abstract text is available yet for this article.

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, inherited autosomal recessive disorder caused by fibroblast growth factor-23 ( FGF23 ), N-acetylgalactosaminyltransferase 3 ( GALNT3 ), or Klotho ( KL ) gene variants. Here, we report the case of a Japanese boy who presented with a mass in his left elbow at the age of three. Laboratory test results of the patient revealed normocalcemia (10.3 mg/dL) and hyperphosphatemia (8.7 mg/dL); however, despite hyperphosphatemia, serum intact FGF23 level was low, renal tubular reabsorption of phosphate (TRP) level was inappropriately increased, and 1,25-dihydroxyvitamin D3 (1,25(OH)2 D3 ) level was inappropriately normal...

Conventional treatments for Graves' disease include thionamides, radioactive iodine therapy (RAI), and thyroidectomy. Occasionally, patients may develop resistance to thionamides and may require additional treatment. We present the case of an adolescent girl with thionamide-resistant Graves' disease who was successfully treated with lithium and subsequent RAI after stabilizing her thyroid hormone levels. Following RAI, the patient developed hypothyroidism, and thyroxine replacement therapy was initiated. This case highlights the potential of lithium as a safe and effective alternative for controlling hyperthyroidism in Graves' disease and its role in preparing patients for more definitive treatment...

Camurati-Engelmann disease (CED) causes bone pain, muscle weakness, and cranial nerve symptoms due to abnormal thickening of the long bones of the limbs and the cortex of the skull. The pathophysiology of CED is a gain-of-function variant of transforming growth factor beta 1 ( TGFB1 ). The ophthalmological symptoms of CED are usually caused by increased intracranial pressure and optic canal stenosis. Here, we report the case of a patient in whom prednisolone was effective against papilledema caused by CED. In this case, when papilledema was observed in both fundi, the patient showed increased bone pain, fever, and elevated CRP and ALP levels...

Pallister-Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic GLI3 pathogenic variant. A two-month-old infant was referred to our institution because of undetermined sex. The infant had atypical genitalia with postaxial polysyndactyly, a hypothalamic mass, and an imperforate anus. We identified a known pathogenic variant of the GLI3 gene within one week and diagnosed the infant with PHS. The parents assigned the infant as male, considering the 46,XY karyotype, normal testosterone secretion, possible male identity, and the natural history of PHS...

Sitosterolemia (OMIM #210250) is a rare lipid disorder caused by variants in genes encoding adenosine triphosphate (ATP)-binding cassette subfamily G Member 5 ( ABCG5 ) or 8 ( ABCG8 ), which play roles in the intestinal and biliary excretion of cholesterol and plant sterols, such as sitosterol and campesterol. Although considered an autosomal recessive disorder, recent reports have shown that a heterozygous ABCG5 variant can also cause mild symptoms. Here, we report the case of an infant with a heterozygous variant of ABCG5 ...

No abstract text is available yet for this article.

Type 1 diabetes mellitus (T1DM) and poor glycemic control are risk factors for severe coronavirus disease 2019 (COVID-19). Sotrovimab can treat mild-to-moderate COVID-19 in patients at a high risk of progression to severe COVID-19. However, its safety and efficacy in T1DM patients remain to be elucidated. We report the case of a 12-yr-old patient who was treated with sotrovimab for COVID-19 immediately after treatment for diabetic ketoacidosis (DKA) due to new-onset T1DM. He presented with nausea and sore throat and was diagnosed with severe DKA and COVID-19...

GH treatment has been widely utilized for short-statured children born small for gestational age (SGA). Although SGA children are at a higher risk of renal dysfunction, the effect of GH treatment on renal function is still unclear. We have previously shown that GH treatment is not associated with renal dysfunction during the prepubertal period; however, its effect during the pubertal period has not been investigated. Accordingly, we herein retrospectively investigated creatinine-based estimated glomerular filtration rates (eGFR) in 26 short-statured children born SGA during puberty, defined as the period between the onset of puberty and cessation of GH treatment, and their association with parameters at birth and GH treatment...