Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.

Biallelic IGFALS variants lead to acid‒labile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth N-glycosylation motif (c.1103_1108del, p.

Estimation of LDL Particle Size Using Lipid Indices: A Population-Based Study of 1578 Schoolchildren.

Background: Low-density lipoprotein (LDL) is atherogenic and LDL particles are reduced in diameter in the presence of insulin resistance, forming small, dense LDL. This study was conducted to assess the relationship between commonly used lipid indices and LDL particle size and furthermore to clarify the best surrogate lipid markers that could conveniently be used to estimate LDL particle size in children.

Methods: We determined LDL particle diameter by gradient gel electrophoresis in 1578 children aged 10-12 years.

Association between timing of adiposity rebound and body weight gain during infancy.

Objective: To investigate whether increments of weight gain in early infancy are related to the timing of adiposity rebound (AR).

Study Design: A total of 271 children (147 boys and 124 girls) in 1 community were enrolled in the study. Serial measurements of body mass index were carried out at the ages of 4, 8, and 12 months and 1.

Formation of bis(2-pyridylcarbonyl)aminate by oxidation of ethylbis(2-pyridylmethyl)amine on the trichloridoruthenium(III) complex.

Oxidation of the facial-type trichloridoruthenium(III) complex bearing ethylbis(2-pyridyl-methyl)amine (ebpma), fac-[Ru(III)Cl3(ebpma)], with an equimolecular amount of (NH4)2[Ce(IV)(NO3)6] in acetonitrile afforded a ligand-based oxidation product of an acetonitriledichloridoruthenium(III) complex having bis(2-pyridylcarbonyl)aminato (bpca), [Ru(III)Cl2(NCCH3)(bpca)]. The complex changed into a trichloridoruthenium(III) complex by a reaction with hydrochloric acid and the triacetonitrileruthenium(II) complex by reduction with Zn in ethanol-acetonitrile. The bpca moiety showed interactions with cations such as protons.

Adiposity rebound and the development of metabolic syndrome.

Objective: The age of adiposity rebound (AR) is defined as the time at which BMI starts to rise after infancy and is thought to be a marker of later obesity. To determine whether this age is related to future occurrence of metabolic syndrome, we investigated the relationship of the timing of AR with metabolic consequences at 12 years of age.

Methods: A total of 271 children (147 boys and 124 girls) born in 1995 and 1996 were enrolled in the study.

Effect of excess estrogen on breast and external genitalia development in growth hormone deficiency.

Background: The progress of sexual maturation and development in cases with growth hormone (GH) and insulin-like growth factor-I (IGF-I) deficiency is not well documented in females.

Case: We observed breast and genitalia development in a 2-year-old girl with GH deficiency following neonatal asphyxia; this girl later developed central precocious puberty. Markedly pigmented stimulated areolas and nipples without an apparent breast mound, and non-enlarged labia minora in the external genitalia were observed as features of sexual maturation in the patient.

HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families.

Objective: To determine the HLA-DRB1, DQB1, DPB1, A, C, and B genotypes among Japanese children with autoimmune type 1 diabetes.

Methods: Four hundred and thirty patients who were GADAb and/or IA-2Ab-positive (Type 1A) were recruited from 37 medical centers as part of a nationwide multicenter collaborative study. DNA samples from 83 siblings of the children with Type 1A diabetes and 149 parent-child trios were also analyzed.

Successfully treated acute lymphoblastic leukemia associated with craniopharyngioma.

The authors report a 2-year-old boy with acute lymphoblastic leukemia (ALL) associated with craniopharyngioma. To our knowledge, this is the first such report. Magnetic resonance imaging showed a suprasellar tumor, an apparent cystic lesion, whereas cerebral computed tomography confirmed that the tumor exhibited calcification.

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Carbamoylphosphate synthetase I deficiency (CPS1D) is a urea-cycle disorder characterized by episodes of life-threatening hyperammonemia. Correct diagnosis is crucial for patient management, but is difficult to make from clinical presentation and conventional laboratory tests alone. Enzymatic or genetic diagnoses have also been hampered by difficult access to the appropriate organ and the large size of the gene (38 exons).

Duration of isolation of children with influenza A treated with oseltamivir.

The duration of fervescence (24 hours in children or 30 hours in adults) was shorter in the oseltamivir group than in the placebo group. According to a Japanese law enacted before oseltamivir therapy became available, schoolchildren with influenza must be isolated 48 hours after defervescence. Our data suggest isolation should be at least 84 hours for children with influenza A treated with oseltamivir and 108 hours for preschool children.

Discrepancies between Physician and Parent Perceptions of Psychosocial Problems of GHD Children Undergoing GH Therapy in Japan.

This study examined discrepancies between the perceptions of physicians treating short children with GH deficiency (GHD) using GH replacement therapy (GHRT) and the perceptions of the parents of these children and identified the major causes of parental anxiety. Three attending pediatric endocrinologists and the parents of 31 GHD children participated in this study. The physicians and parents completed a specially designed questionnaire to rate the types and degrees of psychosocial problems that GHD children might experience.

Hypocalcemia due to tubular dysfunction in a patient with holoprosencephaly.

This is the first report of a case of hypocalcemia in a female infant with holoprosencephaly. Hypocalcemia developed 60 days after birth, secondary to decreased serum 1,25-dihydroxyvitamin D, as a result of renal tubular dysfunction which may have been induced by prerenal acute renal failure, the administration of anticonvulsants, and hypothyroidism. However, there was no evidence of rickets, and her serum 25-hydroxyvitamin D value was normal.

Relationship between the presence of small, dense low-density lipoprotein and plasma lipid phenotypes in Japanese children.

To clarify the relationship between the expression of atherogenic small, dense low-density lipoprotein (SDLDL) and underlying lipid metabolic abnormalities, the prevalence of SDLDL in relation to the serum lipid phenotype was analyzed in 229 children. The LDL particle size was measured using gradient gel electrophoresis, and a particle size of less than 25.5 nm was considered to represent SDLDL.

Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins.

The androgen insensitivity syndrome (AIS) is the most common cause of male undermasculinization and is typically caused by mutations in the AR gene. Affected individuals may exhibit either complete external feminization (complete AIS) or a partial phenotype (partial AIS). Here we describe monozygotic twins diagnosed with complete AIS who each possess two substitutions (C-->G at position 2930 and T-->C at position 2955, both in exon 7), leading to Phe(856)Leu and Ser(865)Pro mutations, respectively.