Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.

Context: Thyroglobulin (Tg), encoded by TG, is essential for thyroid hormone synthesis. TG defects result in congenital hypothyroidism (CH). Most reported patients were born before the introduction of newborn screening (NBS).

Pathogenic variants of the gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.

Pseudohypoparathyroidism 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by loss-of-function variants of , which encodes Gsα. We present two unrelated Japanese families with PHP1A and PPHP harboring unreported pathogenic variants of (c.1141delG, p.

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.

Congenital generalized lipodystrophy type 4 (CGL4) is a rare disease caused by mutations in the gene polymerase I and transcript release factor (), the main symptoms of which are systemic reductions in adipose tissue and muscular dystrophy. The strategy of treating CGL4 is to improve the insulin resistance and hypertriglyceridemia that result from systemic reductions in adipose tissue. Metreleptin, a synthetic analog of human leptin, is effective against generalized lipodystrophies; however, there are no reports of the use of metreleptin in the treatment of CGL4.

Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia.

Objective: Serum amino-terminal propeptide of C-type natriuretic peptide (NT-proCNP) levels have been proposed as a biomarker of linear growth in healthy children. The usefulness of NT-proCNP in patients with achondroplasia (ACH)/hypochondroplasia (HCH) remains to be elucidated. The objective was to study whether serum NT-proCNP level is a good biomarker for growth in ACH/HCH and other patients of short stature.

Clinical Trial of Four Weeks of Combination Therapy with Low-dose Methimazole and a Cholesterol Absorption Inhibitor as the Initial Treatment for Childhood-onset Graves' Disease.

The initial treatment of childhood-onset Graves' disease is based on the result of clinical trials of adult-onset disease. The major adverse events associated with methimazole, the only medication approved for childhood-onset disease in Japan, are considered to depend on the dose, and the risk of adverse events is increased in patients requiring higher doses for initial treatment. The serum levels of thyroid hormones are partially dependent on the enterohepatic circulation, especially under thyrotoxicosis.

Premature thelarche in later childhood demonstrates a pubertal response to GnRH stimulation test at one year after breast development.

Premature thelarche in later childhood (such as at 5-7 yr of age) is not always easy to distinguish from GnRH-dependent precocious puberty. In this study, a GnRH stimulation test was performed on 21 girls from 5 to 7.5 yr of age with early breast development.

[Pharmacokinetic and clinical studies on teicoplanin for sepsis by methicillin-cephem resistant Staphylococcus aureus in the pediatric and neonate field].

Pharmacokinetics, clinical efficacy and safety of teicoplanin (TEIC) were evaluated in pediatric and neonate patients with MRSA sepsis in the dosages approved in overseas. The administrated dose for pediatrics patients was 10 mg/kg once at hour 0, 12 and 24, followed by every 24 hours intervals. In neonates patients, first dose was 16 mg/kg, then 8 mg/kg every 24 hours intervals.

A novel heterozygous T51I mutation of growth hormone receptor is not associated with short stature.

A novel missense mutation of the growth hormone receptor (GHR) gene was identified in a Japanese short boy with GH insensitivity. The analysis of the GHR gene revealed a novel heterozygous T51I mutation in exon 4. To clarify the effect of this mutation on GH signaling, the mutant GHR was expressed in CHO cells and its functional properties were investigated.