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.

Long-term follow-up after bilateral percutaneous epiphysiodesis around the knee to reduce excessive predicted final height.

Context: Percutaneous epiphysiodesis (PE) around the knee to reduce predicted excessive final height. Studies until now included small numbers of patients and short follow-up periods.

Objective And Design: This Dutch multicentre, long-term, retrospective, follow-up study aimed to assess adult height (AH), complications, knee function and patient satisfaction after PE.

ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment.

Background: Some children born small for gestational age (SGA) show advanced bone age (BA) maturation during growth hormone (GH) treatment. ACAN gene mutations have been described in children with short stature and advanced BA.

Objective: To determine the presence of ACAN gene mutations in short SGA children with advanced BA and assess the response to GH treatment.

Metabolic Health in Short Children Born Small for Gestational Age Treated With Growth Hormone and Gonadotropin-Releasing Hormone Analog: Results of a Randomized, Dose-Response Trial.

Context: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m(2) per day (∼ 0.033 mg/kg/d) in combination with 2 years of GnRH analog (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure.

Goal disturbance and coping in children with type I diabetes mellitus: relationships with health-related quality of life and A1C.

Objective: Our first objective was to compare the health-related quality of life (HRQoL) of children with type 1 diabetes mellitus (8-12 years) with that of a healthy reference group, and to compare glycated hemoglobin (A1C) values of these children to recommended guidelines. Our second objective was to examine how goal disturbance and coping behaviour were related to HRQoL and A1C.

Method: Forty-three children, 8-12 years of age, completed a set of questionnaires that assessed generic and diabetes-specific HRQoL, goal disturbance and coping behaviour.

Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.

Background: Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited.

Methods: Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr of GH treatment.

Quality of the parent-child interaction in young children with type 1 diabetes mellitus: study protocol.

Background: In young children with type 1 diabetes mellitus (T1DM) parents have full responsibility for the diabetes-management of their child (e.g. blood glucose monitoring, and administering insulin).

Can one question be a useful indicator of psychosocial problems in adolescents with diabetes mellitus?

Aim: A screening tool for psychosocial functioning of adolescents with diabetes is unavailable. We investigated whether one question using a Visual Analogue Scale that indicates a rating from the worst (0) to the best possible life (10) is related to standardized indices of psychosocial functioning and well-being in adolescents with diabetes mellitus type 1 (T1DM).

Method: One hundred and fifty-one adolescents with T1DM and 122 healthy peers between 12 and 18 years of age were asked to rate their life on a scale, varying from 0 to 10.

Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome.

Context And Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear.

Design And Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10 centers in The Netherlands.

Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome.

Background: Children with Prader-Willi syndrome (PWS) have abnormal body composition and impaired growth. Short-term GH treatment has beneficial effects.

Objectives: The aim of the study was to investigate effects of long-term continuous GH treatment on body composition, growth, bone maturation, and safety parameters.

Bone mineral density and effects of growth hormone treatment in prepubertal children with Prader-Willi syndrome: a randomized controlled trial.

Background: Bone mineral density (BMD) is unknown in children with Prader-Willi syndrome (PWS), but is decreased in adults with PWS. In patients with GH deficiency, BMD increases during GH treatment.

Objectives: The aim of the study was to evaluate BMD in children with PWS and to study the effects of GH treatment.

Overnight levels of luteinizing hormone, follicle-stimulating hormone and growth hormone before and during gonadotropin-releasing hormone analogue treatment in short boys born small for gestational age.

Aims: To evaluate if 3 months of gonadotropin-releasing hormone analogue (GnRHa) treatment results in sufficient suppression of pubertal luteinizing hormone (LH) and follicle-stimulating hormone (FSH) profile patterns in short pubertal small for gestational age (SGA) boys. To compare growth hormone (GH) profiles and fasting insulin-like growth factor (IGF)-I and IGF-binding protein-3 (IGFBP-3) levels after 3 months of GnRHa treatment with those at baseline.

Methods: After measurement of baseline overnight profiles and IGF-I and IGFBP-3 levels, 14 short pubertal SGA boys received leuprorelide acetate depots of 3.

Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.

Objective: Autoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.

Design: AIRE mutation detection was performed in a cohort of 11 patients.

Growth and final height after liver transplantation during childhood.

Objective: To evaluate the effect of end-stage pediatric liver disease and liver transplantation on growth and final height.

Patients And Methods: We evaluated growth at 2 years (n = 101) and 5 years (n = 63) after pediatric liver transplantation (LTx). Twenty-three children reached final height.

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.

Marfan syndrome (MFS) is known as an autosomal-dominant connective tissue disorder (MIM 154,700), involving primarily the skeletal, ocular and cardiovascular systems, and caused by mutations in the gene for fibrillin1 (FBN1). Here, we report on two cousins from a consanguineous family with a homozygous c.1,453C>T FBN1 mutation (p.

Long-term effects of growth hormone (GH) treatment on body composition and bone mineral density in short children born small-for-gestational-age: six-year follow-up of a randomized controlled GH trial.

Unlabelled: Context Alterations in the GH-IGF-I axis in short small-for-gestational-age (SGA) children might be associated with abnormalities in bone mineral density (BMD) and body composition. In addition, birth weight has been inversely associated with diabetes and cardiovascular disease in adult life. Data on detailed body composition in short SGA children and long-term effects of GH treatment are very scarce.

High serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) during high-dose GH treatment in short children born small for gestational age.

Context: Epidemiological studies have indicated that high serum levels of GH and IGF-I are associated with long-term risks.

Objective: The objective of the study was to evaluate the changes in serum levels of GH during overnight profiles, IGF-I, and IGF binding protein 3 (IGFBP-3) in short small for gestational age (SGA) children during GH treatment with two doses.

Patients: Thirty-six prepubertal short SGA children were the subjects of this study.

Reduction of excessive height in boys by bilateral percutaneous epiphysiodesis around the knee.

Unlabelled: In this study, the results of percutaneous epiphysiodesis as a surgical method to decrease final height is described in 15 boys with a predicted final height of more than 205 cm. A total of 17 boys with a height prediction between 195 and 209 cm without treatment were included as controls. The study period was from 1995-2002 and patients were followed for a mean period of 3.