Longitudinal Glycaemic Profiles during Remission in 6q24-Related Transient Neonatal Diabetes Mellitus.

Introduction: Transient neonatal diabetes mellitus (TNDM) is a rare condition that is characterized by the presence of diabetes mellitus during the first 6 months of life and remission by 18 months of age. It usually relapses at a median age of 14 years. Hyperinsulinaemic hypoglycaemia is a relatively common complication during remission.

Effects of Zinc Acetate on Serum Zinc Concentrations in Chronic Liver Diseases: a Multicenter, Double-Blind, Randomized, Placebo-Controlled Trial and a Dose Adjustment Trial.

The essential trace element zinc maintains liver functions. Liver diseases can alter overall zinc concentrations, and hypozincemia is associated with various hepatic pathologies. Modulating systemic zinc through dietary supplementation is potentially useful for liver diseases.

Sexual precocity in a girl with early-onset Graves' disease.

We describe the case of a girl diagnosed with Graves' disease (GD) at 2 yr of age, who developed early puberty. Preoperative examination for craniosynostosis revealed thyrotoxicosis. While she was tall and her bone age was advanced at GD onset, her linear growth attenuated after commencement of anti-thyroid treatment.

A key genetic factor for fucosyllactose utilization affects infant gut microbiota development.

Recent studies have demonstrated that gut microbiota development influences infants' health and subsequent host physiology. However, the factors shaping the development of the microbiota remain poorly understood, and the mechanisms through which these factors affect gut metabolite profiles have not been extensively investigated. Here we analyse gut microbiota development of 27 infants during the first month of life.

Serum biotin in Japanese children: Enzyme-linked immunosorbent assay measurement.

Background: Biotin deficiency has been reported in Japanese infants fed special formulas for medical reasons, including those with milk allergy and congenital metabolic diseases, because these formulas contain little biotin. Serum biotin measurement is useful for diagnosing biotin deficiency. We applied a simple and rapid method to analyze serum biotin, and established normal ranges for children and adults.

Low serum biotin in Japanese children fed with hydrolysate formula.

Background: Given that nutritional biotin deficiency in Japanese infants has been reported, a straightforward method for estimating biotin level is needed. The biotin content in infant formula, breast milk, and the sera of infants fed with various types of formula were measured using avidin-binding assay.

Methods: A commercially available ELISA kit was used for the measurement of biotin in 54 types of formula, including hydrolysate formulas for milk allergy, as well as in breast milk and in the sera of 27 infants fed with these formulas.

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Zellweger syndrome, one of the peroxisome biogenesis disorders, is an autosomal recessive disease caused by mutations in PEX genes. It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineural hearing impairment. Most of the patients with this disease die before the age of 1 year.

Changes in body weight and height in survivors of Menkes disease.

Objective: To explore the changes in the body weight and height of Menkes disease (MNK) patients treated with long-term copper-histidine.

Methods: A survey involving a retrospective review of medical records or summaries of MNK patients was conducted. Patients were 44 males born after 1994, and their feeding method and genetic analysis of the ATP7A gene were reviewed.

Lactate and pyruvate levels in blood and cerebrospinal fluid in patients with Menkes disease.

Objective: To examine levels of lactate (LA) and pyruvate (PA) in both blood and cerebrospinal fluid (CSF) in patients with Menkes disease (MNK).

Study Design: A nationwide survey involving a retrospective review of medical records or medical record summaries of 42 male patients with MNK born between 1993 and 2008 were performed, and the genetic analysis of their ATP7A gene was reviewed.

Results: In these patients, LA and PA levels and the lactate vs pyruvate ratio (L/P ratio) at diagnosis in both blood and CSF were abnormally high.

Interaction of PICK1 with C-terminus of growth hormone-releasing hormone receptor (GHRHR) modulates trafficking and signal transduction of human GHRHR.

Release of growth hormone (GH) from the somatotroph is regulated by binding GH-releasing hormone (GHRH) to its cognate receptor (GHRHR), one of the members of the G protein-coupled receptor (GPCR) superfamily. Proteins bound to the carboxy (C)-terminus of GPCR have been reported to regulate intracellular trafficking and function of the receptor; however, no functionally significant protein associated with GHRHR has been reported. We have identified a protein interacting with C-kinase 1 (PICK1) as a binding partner of GHRHR.

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.

Familial goiter is a genetic disease showing heterogeneous expression. To identify causative genes, we investigated three multigenerational goiter families with an autosomal dominant inheritance pattern. We performed genome-wide linkage analysis on all the families, combined with whole-exome sequencing in two affected individuals from each family.

Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease.

Menkes disease (MD) is a genetic neurodegenerative disorder characterized by copper deficiency due to a defect in ATP7A. Standard treatment involves parenteral copper-histidine administration. However, the treatment is ineffective if initiated after two months of age, because the administered copper accumulates in the blood-brain barrier and is not transported to neurons.

Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome.

The clinical and biochemical effects of disulfiram were evaluated in three boys with the disorders characterized by copper deficiency due to the defect of ATP7A. Two suffered from Menkes disease (MD) and one from occipital horn syndrome. Disulfiram was orally given, in addition to a parenteral administration of copper-histidine in the case of MD patients.

Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.

Combined 17alpha-hydroxylase/17,20-lyase deficiency is caused by a defect of P450c17 that catalyzes both 17alpha-hydroxylase and 17,20-lyase reactions in adrenal glands and gonads. In the present study, we analyzed the CYP17A1 gene in a Japanese girl with 17alpha-hydroxylase/17,20-lyase deficiency. The patient was referred to us for clitoromegaly at the age of 3 years.

Hypospadias in a male patient with 21-hydroxylase deficiency.

A 17-day-old Japanese boy was transferred to the hospital because of vomiting and impaired consciousness. His external genitalia was pigmented associated with small penis and penoscrotal hypospadias. He was diagnosed as suffering from adrenal deficiency according to severe electrolyte abnormality, moderate hypoglycemia, metabolic acidosis and extremely elevated 17-OHP and testosterone levels.

Ultrasound appearance of thyroid tissue in hypothyroid infants.

Objective: To identify those infants who need a higher starting dose of levothyroxine (l-T4) for early normalization of thyroid-stimulating hormone (TSH) level.

Study Design: TSH levels at 2 time points (1 to 3 weeks and 3 to 5 weeks) after l-T4 therapy at a starting dose of 8 to 12 microg/kg/day were evaluated retrospectively in 22 hypothyroid infants screened for congenital hypothyroidism (CH) in terms of etiology as determined by ultrasonography (US), the size of distal femoral epiphysis (DFE), and initial thyroid function.

Results: The infants with a noneutopic thyroid or small DFE exhibited significantly higher posttherapeutic TSH levels compared with the other infants.

Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation.

We report on a 14 7/12-year-old Japanese female patient with CHARGE syndrome and CHD7 mutation who also exhibited Kallmann syndrome (KS) phenotype. She had poor pubertal development and apparently impaired sense of smell. A GnRH test showed severely compromised responses of LH (<0.

Subacute thyroiditis in children: patient report and review of the literature.

Subacute thyroiditis is extremely rare during childhood. We treated a 10 year-old prepubertal girl who presented with typical clinical features of subacute thyroiditis. Considering this case and previous reports in children, we characterized the clinical features of this disorder as it occurs in childhood.

Hypophosphatemia in juvenile patients with systemic lupus erythematosus.

Background: Hypophosphatemia is observed in both genetic diseases and acquired disorders, although it has never been described in systemic lupus erythematosus (SLE). The present study reports hypophosphatemia observed in patients with SLE, and investigates whether serum phosphorus (P) concentration is associated with disease activity and some cytokines.

Methods: Six girls with SLE (age 10 to 16 years) and seven age-matched controls were studied.

Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.

Cholesterol side-chain cleavage enzyme (P450scc) catalyzes the conversion of cholesterol to pregnenolone in mitochondria, which is the first step in the biosynthesis of all steroid hormones. Until now, no homozygous or compound heterozygous mutations in CYP11A have been described in humans. Here we describe novel compound heterozygous mutations in CYP11A in a patient with congenital adrenal insufficiency born to healthy parents.