Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study.

Context: Adrenal crisis (AC) is a life-threatening complication that occurs during follow-up of patients with adrenal insufficiency (AI). No prospective study has thoroughly investigated AC in children with primary and secondary AI.

Objective: This work aimed to determine the incidence and risk factors for AC in patients with pediatric-onset AI.

Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty.

5α-reductase type 2 (5αRD2) deficiency is a 46,XY disorder of sex development caused by impaired conversion of testosterone (T) to dihydrotestosterone (DHT). Penile enlargement therapy is important for male patients with 46,XY 5αRD2 deficiency who have undermasculinized external genitalia, such as severe micropenis. High-dose T and percutaneous DHT replacement are reportedly efficacious for penile enlargement in patients with this disorder.

Congenital hypogonadotropic hypogonadism complicated by neuroblastoma.

A 3-mo-old male infant was referred to our hospital with micropenis. Since his serum LH, FSH, and testosterone levels were low (< 0.3 mIU/mL, 0.

Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity.

We report the case of a Filipino girl with autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia caused by homozygous variants in the genes and within the long homozygous DNA region on chromosome 17q21.31. This haplotype may be retained among individuals of Filipino descent.

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.

Objectives: 5α-reductase type 2 deficiency due to biallelic variants is a common form of 46,XY disorders of sex development.

Case Presentation: A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic variant (c.

Predictive effect of antithyroid antibody for relapse of Graves' disease.

Background: The remission rate in children with Graves' disease (GD) after 2-6 years of antithyroid drug (ATD) treatment is 40-50%. It has been reported that it is difficult to predict the GD prognosis based on the thryroid stimulating hormone (TSH) receptor antibody (TRAb) level at the cessation of ATD treatment. We studied whether the persistence of negative TRAb at ATD treatment cessation increased the remission rate in pediatric patients with GD.

ACTH-cortisol dissociation in patients with Kawasaki disease: a retrospective study.

ACTH-cortisol dissociation is recognized in patients with critical illnesses. Cytokines, including tumor necrosis factor-α and interleukin-6 induce hypercortisolemia by enhancing the ACTH-independent synthesis and secretion of cortisol and by reducing cortisol breakdown. Subsequently, hypercortisolemia suppresses ACTH secretion by negative feedback inhibition.

Effect of treatment with epoprostenol and endothelin receptor antagonists on the development of thyrotoxicosis in patients with pulmonary arterial hypertension.

Thyroid disease is known to be associated with pulmonary arterial hypertension (PAH). We investigated the prevalence of thyroid disease in patients with idiopathic PAH (IPAH) or heritable PAH (HPAH), and the factors affecting the pathogenesis of thyroid disease. We retrospectively evaluated 59 patients with IPAH or HPAH who had been diagnosed with PAH before the age of 20 years.

Rapid diagnosis of prosthetic valve endocarditis from Janeway lesions in a transcatheter aortic valve implantation patient.

Percutaneous transcatheter aortic valve implantation (TAVI), first introduced in 2002, is a viable solution for previously inoperable or high-risk patients with aortic stenosis, providing the benefit of valve replacement without the associated risks of surgery. When these patients develop prosthetic valve endocarditis (PVE), management is complicated, owing to their often, atypical presentations and baseline comorbidities. Moreover, it is often difficult to detect vegetations in such patients, even with transesophageal echocardiography.

Thyroid Dysfunction in Neonates Born to Mothers Who Have Undergone Hysterosalpingography Involving an Oil-Soluble Iodinated Contrast Medium.

Background/aims: Patients developing neonatal thyroid dysfunction following maternal hysterosalpingography (HSG) involving the use of oil-soluble iodinated contrast medium (ethiodized oil) have been reported. The present study aimed to investigate the frequency and risk factors for neonatal thyroid dysfunction following HSG.

Methods: We studied 212 infants born to mothers who had become pregnant after undergoing HSG involving the use of ethiodized oil.

Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene.

Subjects who are heterozygous for thyroid stimulating hormone receptor (TSHR) gene mutations present various phenotypes that range from euthyroid to hyperthyrotropinemia. Similarly, heterozygous dual oxidase 2 (DUOX2) gene mutations result in variable phenotypes, such as transient congenital hypothyroidism, subclinical hyperthyrotropinemia, and euthyroid in children. Here, we describe an 8-year-old boy who had normal newborn screening results, but who developed nonautoimmune hypothyroidism at the age of 1 year and 8 months of age.

The expression of integrins is decreased in colon cancer cells treated with polysaccharide K.

Polysaccharide K (PSK), a protein-bound polysaccharide used as a non-specific immunotherapeutic agent, is said to improve the prognosis of malignant tumors such as colon cancer, but there have been few in‑depth investigations of its mechanism of action. In the present study, we investigated which genes in colon cancer cells themselves are regulated by PSK and what sort of action it exerts. Colon cancer cells were exposed to PSK in vitro and changes to their morphology and adhesive capacity were investigated, as were the changes in integrin expression that occurred.

A 3-year-old girl with Graves' disease with hypoglycemia following transient adrenal hyporesponsiveness.

A 3-year-old girl with Graves' disease developed a generalized convulsion as a result of hypoglycemia (25 mg/dL). At the time of the hypoglycemic seizure, her plasma adrenocorticotropin (ACTH) level (1460 pg/mL) was extremely high, but her serum cortisol level (28.4 microg/dL) was relatively low given the severe stress.

Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome.

The gonadal function of patients with Turner syndrome (TS) is variable. Individuals with mosaicism characterized by 45,X/46,XX or 45,X/47,XXX are more likely to experience spontaneous menarche compared with other karyotypes. Prepubertal gonadotropins of TS patients with spontaneous menarche are reportedly normal or significantly lower than those of patients with induced menarche.

Autoimmune thyroid disease in children and adolescents with idiopathic pulmonary arterial hypertension.

Background: Previous studies have reported a high prevalence of autoimmune thyroid disease (AITD) in adult patients with pulmonary arterial hypertension (PAH). The aim of this retrospective study was to determine the prevalence of AITD in children and adolescents with idiopathic PAH (IPAH).

Methods And Results: The study group included 16 patients who had been diagnosed as having idiopathic PAH when they were younger than 15 years old; all were younger than 20 years of age.

Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening.

About 30% of children with elevated TSH levels during neonatal screening have a transient form of disorder. On the other hand, it has been reported that subclinical hypothyroidism persists in late childhood in about 30% of children found to be false-positive during neonatal screening. The aim of this study was to determine whether transient thyroid dysfunction and subclinical hypothyroidism detected during neonatal screening are influenced by genetic background.

Stress doses of glucocorticoids cannot prevent progression of all adrenal crises.

Adrenal crises (ACs) sometimes progress rapidly and can be fatal. The aims of the present study were to reveal whether stress doses of glucocorticoids (SDGs) can prevent progression of severe ACs and to suggest a method of prevention, through analysis of its clinical features. We studied 24 severe ACs (nine patients) that occurred after diagnosis of primary or secondary adrenal insufficiency, retrospectively.

The Range of 2.2-3.3 mg/gCr of Pregnanetriol in the First Morning Urine Sample as an Index of Optimal Control in CYP21 Deficiency.

Auxological data are the gold standard indexes of the therapeutic conditions in patients with CYP21 deficiency over long-term periods, whereas urinary pregnanetriol (PT) for 24 h has been used as an index for short-term periods. We previously reported that the range of 1.2-2.

Pregnanetriol in the Range of 1.2-2.1 mg/m(2)/day as an Index of Optimal Control in CYP21A2 Deficiency.

Auxological data is the gold standard index of the therapeutic condition in CYP21A2 deficiency over a long-range period, whereas urinary pregnanetriol for 24 h (PT) is variable for a shorter-range period. Ideal PT levels in comparison with auxological data have not been reported. The main purpose of this study was to analyze ideal PT values as an index of optimal control for CYP21A2 deficiency.

[A bacteriological study of multiple-drug-resistant Pseudomonas aeruginosa isolates derived from 2 patients].

We investigated the isolation circumstances of multiple-drug-resistant Pseudomonas aeruginosa (MDRP) in the UOEH hospital and the bacterial analysis of isolated MDRP. From January to October 2003, MDRP was isolated from 2 patients. During this period, the isolation frequency of MDRP was 0.

Inhibitory effect of propolis on the growth of human leukemia U937.

We have investigated the effect of propolis (CB Propolis) on the growth of human histiocytic lymphoma U937 cells. We found that propolis strongly inhibited the growth of the cells and macromolecular synthesis in a dose- and time-dependent manner by apoptosis. Propolis at 0.