Annals of Pediatric Endocrinology & Metabolism最新文献

Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-OHD using molecular genetic testing in families at risk.

Methods: This study included 27 pregnant women who had previously borne a child with 21-OHD. Fetal tissues were obtained using chorionic villus sampling (CVS) or amniocentesis. After the genomic DNA was isolated, Sanger sequencing of CYP21A2 and multiplex ligation-dependent probe amplification were performed. The clinical and endocrinological findings were reviewed retrospectively.

Results: A total of 39 prenatal genetic tests was performed on 27 pregnant women and their fetal tissues. The mean gestational age at the time of testing was 11.7 weeks for CVS and 17.5 weeks for amniocentesis. Eleven fetuses (28.2%) were diagnosed with 21-OHD. Among them, 10 fetuses (90.9%) harbored the same mutation as siblings who were previously diagnosed with 21-OHD. Among these, 4 fetuses (3 males and 1 female) identified as affected were born alive. All 4 patients have been treated with hydrocortisone, 9α-fludrocortisone, and sodium chloride since a mean of 3.7 days of life. The male patients did not show hyponatremia and dehydration, although they harbored pathogenic variants associated with the salt-wasting type of 21-OHD.

Conclusion: This study demonstrated the diagnostic efficacy and clinical consequences of diagnosis by prenatal genetic testing in families at risk for 21-OHD. All patients identified as affected were treated with hydrocortisone and 9α-fludrocortisone early after birth, which can prevent a life-threatening adrenal crisis.

Purpose: The correlation between the incidence of type 1 diabetes mellitus (T1DM) and tuberculosis or bacillus Calmette-Guérin (BCG) vaccination rate in individuals aged <15 years was investigated using worldwide data.

Methods: The incidence of T1DM, rate of BCG vaccination, and incidence of tuberculosis were obtained from the Diabetes Atlas 9th edition of the International Diabetes Federation and the Global Health Observatory data repository of the World Health Organization. Gross domestic product (GDP) per capita and population data by country were obtained from the World Bank and United Nations, respectively.

Results: GDP per capita negatively correlated with the incidence of tuberculosis and positively correlated with the incidence of T1DM (coefficient=-0.630 and 0.596, respectively; all P<0.001). The incidence of T1DM and tuberculosis was significantly associated with the Organisation for Economic Cooperation and Development (OECD) status (P<0.001). After adjusting for GDP per capita, regional grouping, and OECD status, the incidence of T1DM negatively correlated with that of tuberculosis (R2 =0.729, P=0.009). However, there was no association between the BCG vaccination rate and incidence of T1DM (P=0.890).

Conclusion: There was a negative correlation between the incidence of tuberculosis and T1DM in children and adolescents aged <15 years at the country level.

Purpose: There are no definite guidelines on the optimal dosage of gonadotropin-releasing hormone (GnRH) agonist for treatment of central precocious puberty (CPP). We compared growth outcomes of GnRH agonist at different dosages in girls with idiopathic CPP to assess the optimal dosage.

Methods: This retrospective study included 86 girls with idiopathic CPP who had been treated with GnRH agonist for at least one year and had attained their final adult height. Leuprolide was given as fixed dosage (3.75 mg every 4 weeks in body weight >20 kg, n=72) or weight-based dosage (60-85 μg/kg every 4 weeks, n=14). We compared suppression of advanced puberty and treatment response between the 2 groups.

Results: Peak estradiol and luteinizing hormone and bone age (BA)/chronological age after injection of GnRH agonist were effectively suppressed in both groups. In both groups, the height standard deviation score (SDS) for BA increased after treatment. Final adult height (FAH) (fixed dosage group,160.8±4.1 cm and weight-based dosage group, 161.2±4.4 cm) was significantly higher than the initial predicted adult height (PAH) (155.5±3.3 and 156.1±3.6 cm, respectively) (both P<0.001) and similar to midparental height (159.8±3.3 and 160.6±3.7 cm, respectively). There were no differences in gain in height SDS for BA and gain in height (FAH-PAH at the start) between the 2 groups.

Conclusion: There were no differences in treatment outcome between fixed dosage (3.75 mg/4 wk) and weight-based dosage (60-85 μg/kg/4wk) of GnRH agonist. Therefore, a fixed dosage of GnRH agonist can be used more conveniently for CPP treatment without growth oversuppression.