BMI increase during early childhood in boys with cystic fibrosis and early adrenarche.

Background: Increase in body mass index (BMI) in early childhood (1-6 years) was found to be a contributing factor for impaired final height in boys with Cystic Fibrosis (CF). Early adrenarche (before age 9 years in boys) may contribute to an impaired final height by triggering an early acceleration of bone age resulting in a compromised growth spurt during puberty. We aimed to analyze the timing of adrenarche in boys with CF and to associate BMI increase in early childhood to timing of adrenarche.

Safety of Antenatal Predniso(lo)ne and Dexamethasone on Fetal, Neonatal and Childhood Outcomes: A Systematic Review.

Context: Due to ethical considerations, antenatal dose finding for prednisolone and dexamethasone in pregnant women is limited, leading to a knowledge gap.

Objective: In order to guide the clinician in weighing benefits vs risks, the aim is to systematically review the current literature on the side effects of antenatal predniso(lo)ne and dexamethasone use on the fetus, newborn, and (pre)pubertal child.

Evidence Acquisition: The search was performed in PubMed/MEDLINE and Embase using prespecified keywords and Medical Subject Headings.

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.

Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4).

Design: Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries.

Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency.

Context: Hydrocortisone treatment of young patients with 21-hydroxylase deficiency (21OHD) is given thrice daily, but there is debate about the optimal timing of the highest hydrocortisone dose, either mimicking the physiological diurnal rhythm (morning), or optimally suppressing androgen activity (evening).

Objective: We aimed to compare 2 standard hydrocortisone timing strategies, either highest dosage in the morning or evening, with respect to hormonal status throughout the day, nocturnal blood pressure (BP), and sleep and activity scores.

Methods: This 6-week crossover study included 39 patients (aged 4-19 years) with 21OHD.

The Efficacy, Safety, and Side Effects of Intrapericardial Triamcinolone Treatment in Children with Post-surgical Pericardial Effusion: A Case Series.

Intrapericardial triamcinolone can be used to treat chronic pericardial effusion (PE) in adults; however, pediatric data are lacking. In this case series we aim to evaluate the efficacy, safety, and side effects of intrapericardial triamcinolone in children with PE. The incidence and treatment of post-surgical PE from 2009 to 2019 were determined using the institutional surgical database and electronic patient records.

Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.

Objective: Leptin receptor (LepR) deficiency is an autosomal-recessive endocrine disorder causing early-onset severe obesity, hyperphagia and pituitary hormone deficiencies. As effective pharmacological treatment has recently been developed, diagnosing LepR deficiency is urgent. However, recognition is challenging and prevalence is unknown.

Rapid early increase in BMI is associated with impaired longitudinal growth in children with cystic fibrosis.

Background: We aimed to assess whether final height in children with cystic fibrosis (CF) is affected by body mass index (BMI), BMI increase, pulmonary function, and cystic fibrosis-related diabetes (CFRD).

Study Design: A longitudinal, retrospective study was performed in a cohort of 57 patients with CF (30 boys, 27 girls) born between 1997 and 2001. Height and weight were recorded annually from ages 0.

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia.

Background: In 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting (SW) CAH have already been clinically diagnosed before the screening result was known.

Methods: Retrospective, descriptive study.

Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.

Context. Leri-Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3'-flanking region. Recently, a 47.

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

Context: KISS1 is a candidate gene for GnRH deficiency.

Objective: Our objective was to identify deleterious mutations in KISS1.

Patients And Methods: DNA sequencing and assessment of the effects of rare sequence variants (RSV) were conducted in 1025 probands with GnRH-deficient conditions.

The predictive value of the individual components of the metabolic syndrome for insulin resistance in obese children.

Background/aims: The usefulness of the concept of the metabolic syndrome (MS) in its current form has recently been questioned, and its association with insulin resistance is unknown. We assessed whether a multivariate model based on all components of MS expressed on a continuous scale would be a better predictor of a common marker of insulin resistance than the current dichotomous MS definitions.

Methods: Data from 78 obese Dutch teenagers (age 13.

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

Context: During meiosis I, the recombination frequency in the pseudoautosomal region on Xp and Yp (PAR1) in males is very high. As a result, mutated genes located within the PAR1 region can be transferred from the Y-chromosome to the X-chromosome and vice versa.

Patients: Here we describe three families with SHOX abnormalities resulting in Leri-Weill dyschondrosteosis or Langer mesomelic dysplasia.

Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight.

Objective: In newborn screening programs for congenital adrenal hyperplasia, 17-alpha-hydroxyprogesterone (17OHP) cutoff levels are based on birth weight (BW) or on gestational age (GA). We investigated which approach would result in the greatest specificity and sensitivity.

Study Design: For the determination of 17OHP, a neonatal 17OHP assay was used in filter paper blood of 9492 newborns.

Neonatal screening for congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is well suited for newborn screening, as it is a common and potentially fatal disease which can be easily diagnosed by a simple hormonal measurement in blood. Moreover, early recognition and treatment can prevent severe salt wasting, dehydration and death and shorten the time of male sex assignment in virilised females.In screening programmes, 17alpha-hydroxyprogesterone (17OHP) is measured in filter paper blood spots obtained by a heel puncture preferably between 2 and 4 days after birth.